Colpocephaly …

Laura Flores-Sarnat MD

Developmental Malformations

Updated 05.18.2024
Released 09.12.1994
Expires For CME 05.18.2027

Colpocephaly

Author: Laura Flores-Sarnat MD

See Contributor Disclosures

Editor: Harvey B Sarnat MS MD FRCPC

Colpocephaly

In This Article

Quick Link

Introduction

Overview

Colpocephaly refers to the selective dilatation of the occipital horns with normal or small frontal horns and 3rd ventricle. It is often confused with hydrocephalus. It is commonly described as hydrocephalus or ventriculomegaly. The distinction is important because hydrocephalus usually requires shunting, affects all the ventricular system, and is often progressive and obstructive, whereas colpocephaly is an occipital selective, nonprogressive, and nonobstructive condition that does not require surgical treatment. Colpocephaly can occur isolated or associated with diverse anomalies and genetic syndromes.

Key points

	• Colpocephaly is the selective dilatation of the occipital horns of the lateral ventricles. It is the most frequent anomaly of the ventricular system after hydrocephalus.
	• Colpocephaly is often confused with hydrocephalus, but intraventricular pressure is not increased.
	• The most frequent association is with agenesis or dysgenesis of the corpus callosum with diminished white matter in the posterior half of the telencephalon.
	• There are many associated genetic syndromes and also many other associated brain malformations
	• Diagnosis can be made by any modality of neuroimaging: cranial ultrasound, CT, or MRI, including prenatally.
	• Shunting is rarely required.

Historical note and terminology

In 1940 Benda first recognized the "failure of decrease in the size of the primitive brain vesicles" in a mentally retarded boy with epilepsy and microcephaly who, on neuropathological examination, also had an absent corpus callosum, micro- and macrogyria, and gray matter heterotopia. He used the term "vesiculocephaly" for this ventricular configuration (12). In 1946 Yakovlev and Wadsworth discussed this same patient as a case of fused lip schizencephaly and suggested the term colpocephaly instead (from the Greek "kolpos," meaning hollow) to "avoid the miscegenation of the Latin and Greek roots" (110). Initially, colpocephaly referred to persistent global wide ventricles (07). Later, the term "colpocephaly" was restricted to the persistence of a specific form of fetal ventricular configuration into postnatal life where occipital horns of the cerebral ventricles remain disproportionately large and dilated (42). This term found wide acceptance and has been used since. The colpocephalic configuration of the ventricles is presently most easily recognized by computed tomography or magnetic resonance imaging of the brain.

Colpocephaly in a 6-week-old boy (CT)

Note the dilated occipital horns of the ventricles with reduced periventricular white matter. There also is absence of the corpus callosum with wide separation of the frontal horns. (Contributed by Dr. Bhuwan Garg.)

In the past, pneumoencephalography or ventriculography was used for the same purpose (42).

Colpocephaly is often confused with hydrocephalus, both in the fetus (06) and also at later postnatal ages. It is commonly described as hydrocephalus or ventriculomegaly. However, they are different anomalies and should be distinguished. Colpocephaly refers to the selective dilatation of the occipital horns with normal or small frontal horns and 3rd ventricle. The distinction is important because hydrocephalus usually requires shunting, affects all the ventricular system, and often is progressive and obstructive, whereas colpocephaly is an occipital selective, nonprogressive, and nonobstructive condition that does not require surgical treatment. An exception exists when colpocephaly coincides with obstructive hydrocephalus (76). Fetal ventriculomegaly refers to enlarged cerebral lateral ventricles in the fetus with a transverse diameter of the atrium above 10 mm by ultrasound (20).

Clinical manifestations

Presentation and course

Colpocephaly, most commonly recognized on radiological investigations can occur as an isolated disorder or can be associated with several conditions (See Table 1). It is manifested by a wide range of clinical symptoms and signs (42; 48; 33). The clinical picture is highly variable, depending on etiology and associated conditions. Children have been described who have colpocephaly and nearly normal or borderline intelligence (70), and it has also been found in children with normal intelligence upon neurologic examination (43). Congenital mirror movements have been observed in infants with colpocephaly (114; 100). However, developmental delay and intellectual disability of varying severity, ranging from mild to severe degree, is more common. Severe cognitive deficit has been reported in Zimmermann-Laband syndrome, a rare autosomal dominant disorder characterized by gingival fibromatosis, hypertrichosis, and absence or hypoplasia of the nails or terminal phalanges of the hands and feet (27). Mild intellectual disability or normal intelligence has also been observed (23). Clinical manifestations of colpocephaly are usually evident in infancy; in rare cases, diagnosis is made in adult life, such as a woman with bilateral, massive colpocephaly who nevertheless was a functional person (37). Another case was described in a 66-year-old female without history of neurologic manifestations before her current hospital admission (68). Two more cases of incidental diagnosis of colpocephaly in two male adults were reported (09). Colpocephaly was discovered in a rare presentation of a 67-year-old woman with an atypical meningioma without previous neurologic deficits (25). A 29-year-old male with no past medical history presented to the emergency department with two weeks of throbbing headaches. He had a high school education and was unemployed. Physical examination revealed anxiety; his CT scan showed colpocephaly and agenesis of the corpus callosum (75).

Individuals with the sex chromosome aneuploidy 49,XXXXY have distinctive physical, cognitive, and behavioral features with high individual variation. In a study with MRI, total brain size was significantly smaller (t = 9.0, p < .001), and brain abnormalities including colpocephaly, plagiocephaly, periventricular cysts, and minor craniofacial abnormalities were found (16). In addition, 50% of the patients showed small multifocal white matter lesions. The authors suggest that increased dosage of genes on the X chromosome has adverse effects on white matter development.

In some cases, obstructive hydrocephalus may be present, but this condition is the exception. A 5-month-old female child presented with macrocephaly, tense anterior fontanelle, and delayed developmental milestones with no social smile or head control (76). This infant had hypoplasia of corpus callosum and bilateral colpocephaly, but also obstructive hydrocephalus. Other intracranial anomalies reported in this syndrome are frontal and cerebellar cavernous hemangiomas (30).

Epilepsy may be absent or may be severe and refractory (38; 15). Partial complex seizures may be the presenting symptomatology in adults with normal neurologic examination and intelligence (109). In children with colpocephaly, the age of onset of epilepsy is usually less than one year, and the frequency of seizures is higher in early-onset cases. The seizures are characterized by vomiting, eye deviation, versive seizures, and focal motor seizures. This singular form of occipital epilepsy with prominent autonomic symptoms such as nausea, vomiting, pallor, mydriasis, urinary and fecal incontinence, and rarely hypersalivation, is known as Panayiotopoulos syndrome and can be caused by colpocephaly (111). Interictal EEGs show unilateral or synchronous bilateral spikes (and wave) and slowing of the basic activity in the occipital area (48). In the 6q terminal deletion syndrome, characterized by colpocephaly and dysgenesis of the corpus callosum, occipital epilepsy was described, manifested by vomiting, cyanosis, and head and eye version, with and without loss of consciousness. The EEGs were distinctive and showed posterior spike-and-wave complexes, which were activated by sleep (36). Two siblings with primary microcephaly and Legg-Calve-Perthes disease had epilepsy and mild-to-moderate intellectual deficit. Both had partial agenesis of corpus callosum and one had a more complex brain malformation with dysplastic frontotemporal cortex and Sylvian fissure, colpocephaly, and anomalies of the posterior fossa, including mega-cisterna magna (95).

The investigation of four children with recurrent seizures, one with severe cognitive impairment, disclosed gray matter heterotopia within the white matter by MRI. One patient had bilateral gray matter heterotopia as subependymal nodules and bilateral nodules in the subcortical region. Two other patients also had these forms. Other anomalies were partial agenesis of the corpus callosum with colpocephaly (02). In 12 patients with congenital brain anomalies, including periventricular nodular heterotopia, corpus callosum dysgenesis, colpocephaly, cerebellar hypoplasia, and polymicrogyria, a common 1.2 Mb minimal critical deletion in 6q27 was found (29).

Dysgenesis of the corpus callosum can occur in association with spinal dysraphic lesions. Clinical and neuroimaging features were reviewed in 23 patients (12 male, 11 female; mean age 11.3 years) with caudal spinal dysraphism (myeloschisis, meningomyelocele, and lumbosacral lipoma) (51). The corpus callosum appeared normal in nine patients and was abnormal in 14. Two patients with dysgenesis of frontal, parietal, and occipital lobes had a small, partially agenetic corpus callosum. In the remaining seven patients, the posterior third of the corpus callosum was absent or hypoplastic; six had selectively colpocephaly. In iniencephaly, a rare anomaly of neural tube affecting the occiput and inion in association with rachischisis of the cervical and thoracic spine and retroflexion of the head, colpocephaly and spina bifida can also occur (81; 26).

Visual abnormalities and motor abnormalities, such as hemiparesis, diparesis, and dyskinesias, may be present. Patients may be hypotonic or hypertonic (42). Two siblings with muscle-eye-brain-disease presenting with blindness, developmental delay, hypotonia, and severe epilepsy showed pontine and cerebellar atrophy with colpocephaly (115). Another rare condition that can be associated with colpocephaly is the congenital cystic eye, first described in 1939; now it can be diagnosed by prenatal MRI (103; 99).

Agenesis of the corpus callosum is the most common CNS malformation associated with colpocephaly (32; 83). There is an associated decrease in the occipital periventricular white matter in colpocephaly. Lissencephaly type 1 is another brain malformation frequently associated with colpocephaly.

Lissencephaly type 1 and colpocephaly in a 7-month-old girl (CT)

Axial T1-weighted MRI showing smooth cortex with wide operculae and dilated occipital horns with normal lateral horns. (Contributed by Dr. Laura Flores-Sarnat.)

Colpocephaly combined with other prenatal anomalies including intrauterine growth restriction and cardiac malformation may indicate lissencephaly (24).

Patients with Chudley-McCullough syndrome have severe sensorineural deafness, agenesis of the corpus callosum and colpocephaly (28; 72; 65). A variable clinical picture of Chudley-McCullough syndrome was reported in two dizygotic twins with a novel GPSM2 mutation (54). Other anomalies that may be variably associated are interhemispheric arachnoidal cyst, cortical dysplasia, grey matter heterotopia, and cerebellar dysplasia (50). In one patient with Baller-Gerold syndrome, characterized by craniosynostosis, radial aplasia and hypoplasia plus other anomalies, colpocephaly was found (60). Colpocephaly with agenesis of the corpus callosum and posterior fossa abnormalities associated with congenital fibrosis of extraocular muscles and a Marcus Gunn jaw phenomenon were confirmed in two infant siblings (78). Pachygyria, colpocephaly, and agenesis of the corpus callosum have been reported in Larsen syndrome, a skeletal dysplasia with arthrogryposis multiplex congenita (97). Another girl with microcephalic osteodysplastic primordial “dwarfism” type II also was reported to have pachygyria and colpocephaly (73). She had severe intrauterine growth retardation, microcephaly with a Seckel-like facial appearance, and distinctive radiological findings, including overtubulation of the long bones, metaphyseal cupping of the distal femora, and brachyphalangy with ivory epiphyses. Another craniofacial malformation, rarely associated with colpocephaly, is frontoethmoidal encephalomeningocele (14). A case of Potter type II syndrome (fetal multicystic dysplastic kidney disease) with complete agenesis of the corpus callosum and colpocephaly occurred in two consecutive pregnancies (104). Monosomy 1p36 is an increasingly recognized chromosomal anomaly with multiple clinical manifestations including a single umbilical artery, unilateral club foot, cardiac defect and intrauterine growth retardation. Brain abnormalities and microcephaly are common; ventricular abnormalities, particularly colpocephaly, can be detected on prenatal ultrasound (19). Interstitial deletions of 6q are rare. Four infants with deletion involving 6q25 presented with microcephaly, developmental delay, dysmorphic features (hypertelorism, posteriorly rotated auricles, broad nasal root, and midfacial hypoplasia), plus hearing loss; two of them had agenesis of the corpus callosum and colpocephaly (66). All had feeding difficulties in the perinatal period.

A rare association of colpocephaly, agenesis of the corpus callosum, and anorectal malformation with calcified intraluminal meconium was detected in a newborn with abdominal calcifications (82). A complex syndromic presentation on a dichorionic-diamniotic twin with intrauterine growth retardation and multiple anomalies including microcephaly, colpocephaly, and absent corpus callosum was reported. A partial trisomy 4p and partial monosomy 13q were demonstrated for the first time. Besides multiple dysmorphic features, cardiac anomalies, multicystic dysplastic left kidney, and congenital hypothyroidism were found (84).

In a family (mother, daughter, and son) with known DCC mutations, all three had mirror movements; the son additionally had partial agenesis of the corpus callosum (53). They underwent extensive neuropsychological testing. The mother and daughter had impaired memory for faces and reduced spontaneous speech, and the daughter demonstrated impairments in attention and executive functioning, but their neuropsychological abilities were normal. The son showed significant impairment in multiple domains including psychomotor and general intellectual functioning; he had profoundly impaired executive function, attention, and verbal/nonverbal fluency. His relative strengths included aspects of memory. His neuroimaging revealed an asymmetric sigmoid bundle (53).

On rare occasions, corpus callosal agenesis and colpocephaly can be associated with Möebius syndrome (06). A report describes a 2-month-old male infant presenting bilateral identical movements of the hands. Except for these bilateral involuntary synkinetic imitative movements, the neurologic and physical examination were normal. Cranial MRI showed corpus callosum dysgenesis and bilateral dilatation of the lateral ventricular posterior horns (colpocephaly). At seven years of age, he was started on methylphenidate to mitigate attention deficit and hyperactivity disorder (114). Another rare association of colpocephaly associated with absent circle of Willis was reported in an adult (49). In a boy with Sotos syndrome presenting learning disability and megalencephaly, with normal bone age, corpus callosum dysgenesis and colpocephaly were identified. He showed a heterozygous deletion covering the NSD1 region in the 5q35 locus (52). An infant who presented severe hypoxia at birth, attributed to patent ductus arteriosus and cardiac arrhythmia, had an absent corpus callosum and colpocephaly diagnosed at the age of 3 years, after an episode of febrile seizures (64).

Unilateral colpocephaly is a characteristic finding in the enlarged hemisphere in hemimegalencephaly (39; 46). Another cause of unilateral colpocephaly is an uncommon form of familial porencephaly (01). Infrequently, callosal dysgenesis and colpocephaly are identified in adulthood. One report showed low average intellectual abilities with deficits in processing speed, executive functions, and social cognition. However, visuospatial skills can be relatively normal (55). A 62-year-old male without past medical or psychiatric history was brought to the emergency for a new onset of a visual hallucination. He was agitated and aggressive, reporting seeing people in his house wearing hats, for which he called the police multiple times. The patient had hallucinations in the past, being hospitalized. He denied a recent history of fever or other complaints. His vital signs, laboratory findings, the physical exam, and neurologic functions were normal. An EEG was not performed. A CT scan of the head without contrast showed asymmetric dilatation of the right occipital horn, corresponding to colpocephaly.

Systemic anomalies in all individuals with PITX2-related Axenfeld-Rieger syndrome and the majority of those with FOXC1-related Axenfeld-Rieger syndrome demonstrated umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related Axenfeld-Rieger syndrome exhibited characteristic hearing loss and congenital heart defects, as well as previously unrecognized phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia, development delay, and feeding disorders with structural esophageal anomalies in some. Besides colpocephaly and arachnoid cysts, brain imaging revealed white matter hyperintensities. This expanded phenotype overlaps features of De Hauwere syndrome (86).

Table 1. Some Clinical Conditions in Which Colpocephaly Is Seen

Condition	Reference
Agenesis of the corpus callosum	(42; 71; 32; Puvabanditsin et 2006; 25; 61; 08; 79)
Lissencephaly type 1	(71; 34; 24)
Linear nevus sebaceous syndrome	(44; 39; 40)
Marden-Walker syndrome	(41)
Tourette syndrome	(96)
Aicardi syndrome	(21; 90)
Trisomy 8 mosaic	(45; 105)
Trisomy 9 mosaic	(56)
Norman-Roberts syndrome	(47)
Zellweger syndrome	(67; 102)
Nijmegen breakage syndrome	(11)
Hemimegalencephaly	(44; 39; 46)
Chudley-McCullough syndrome	(28; 72; 65; 54; 89)
6q terminal deletion syndrome	(36; 66)
Isochromosome 18p	(35)
Deletion of 1p36.3	(19)
Zimmermann-Laband syndrome	(23)
Shapiro syndrome	(63)

Prognosis and complications

Prognosis and complications are variable, and to some extent depend on the associated neurologic condition.

Clinical vignette

A 7-year-old boy was brought for neurologic evaluation with a chronic history of cognitive deficit and recent onset of partial complex seizures. He was an only child of normal parents, born at term by normal delivery without complications during pregnancy or in the neonatal period. His global development was delayed, particularly in social skills and language, and he did not talk. His general physical examination was normal; the only dysmorphic feature was bilateral abnormal, folded ears.

Colpocephaly in a 7-year-old boy (photo)

Patient with intellectual deficit and mild epilepsy. Note the dysmorphic ears with folded pinna and lack of visual contact. (Contributed by Dr. Laura Flores-Sarnat.)

On the neurologic examination, he showed mild clumsiness and autistic behavior. He did not establish visual contact with the examiner. His gait was normal, but he was uncooperative for tandem gait. He did not have focal or cranial nerve deficits.

A CT scan of the patient’s brain was performed and disclosed bilateral colpocephaly with no other apparent dysgenesis; the corpus callosum was present. His karyotype was normal. He was diagnosed as isolated developmental colpocephaly and treated with speech therapy and carbamazepine for his epilepsy. At the follow-ups during the next 3 years, he did not show improvement in his language and behavior, but his seizure disorder was controlled.

Biological basis

Etiology and pathogenesis

Colpocephaly may be the result of: (1) a primary developmental malformation or (2) an acquired lesion of the perinatal period (92). In the first case, colpocephaly may be associated with brain malformations as lissencephaly or hemimegalencephaly, but colpocephaly may also be specifically caused by agenesis of the posterior fibers of the corpus callosum (92). It has been attributed to an error of morphogenesis during brain development (42). No single etiologic agent has been implicated, and there may be many causative factors. The essential element is perhaps the time rather than the type of insult to the nervous system. An insult some time during the second to the sixth month of gestation is most likely to cause this morphologic picture. A radiologic picture suggestive of colpocephaly may also be seen following perinatal hypoxia in preterm infants (56; 17).

Colpocephaly in 20-month-old girl (MRI)

T1-weighted MRI showing dilated occipital horns of the ventricles suggesting colpocephaly. There is an abnormal periventricular signal suggesting periventricular leukomalacia. This 20-month-old infant girl was born at 31 to 32 wee...

A genetic etiology is suggested by several authors (38). In patients with peroxisome-deficient disorders such as Zellweger-like syndrome, molecular studies have elucidated two mutated genes, PAF-1 and PXR-1, among others (102). Isolated colpocephaly is usually sporadic, only a few familial cases have been reported (22). Four infants with interstitial deletion involving 6q25 presented microcephaly, developmental delay, dysmorphic features, and hearing loss; two had agenesis of the corpus callosum (66). Using high-density array-comparative genomic hybridization (a-CGH), a common segment spanning 3.52 Mb within the 6q25.2-q25.3 region was deleted in all. The authors hypothesize that a subset of genes in the commonly deleted region are dosage sensitive and that haploinsufficiency of these genes impairs normal development of the brain and hearing.

In a 6-year-old boy with learning disability, megalencephaly, corpus callosum dysgenesis, and colpocephaly Sotos syndrome was suspected despite a normal bone age, later confirming a heterozygous deletion of the NSD1 region in the 5q35 locus (52).

The MRI and CT scans of three unrelated children with microcephaly, facial dysmorphism, developmental delay, and epilepsy showed colpocephaly, hypoplasia of the corpus callosum, and cortical dysplasia. A deletion of an 8.4-Mb region in chromosome band 21q22.2-22.3 (KCNJ6-COL6A2) was demonstrated (113). In another report with a different chromosomal abnormality consisting of 6q terminal deletions, five unrelated patients showed a clinical picture of mental retardation, facial dysmorphisms, and epilepsy. The MRIs showed dysgenesis of the corpus callosum, thalami, brainstem and colpocephaly (36).

In a group of 14 patients with isolated periventricular nodular heterotopia that was studied with whole exome sequencing, one patient had developmental delay, epilepsy, and colpocephaly, and the patient showed a de novo missense mutation in the chromosome 6 open reading frame 70 (C6orf70) gene (29). The authors demonstrated that in human cell lines, C6orf70 shows primarily a cytoplasmic vesicular puncta-like distribution, and the mutation affects its stability and subcellular distribution. A Japanese baby girl presented with severe developmental delay and congenital microcephaly; whole-exome sequencing identified a de novo TUBA1A mutation (98). The phenotype of biallelic mutations in the RTTN gene includes short stature, microcephaly, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum, and superior vermis (101). Pathogenic variants in the gene encoding deleted in colorectal cancer (DCC) are the first genetic cause of isolated agenesis of the corpus callosum (ACC) often associated with colpocephaly (100).

A brief review of the cerebral ventricular development is necessary to understand this condition. The CNS arises from the neural tube that is formed following closure of the neural sulcus, starting in the third week of gestation. The fusion of the neural folds begins at about the level of the fourth somite in an embryo of seven somites at about 21 days of gestation (31). This process then progresses both rostrally and caudally to form the neural tube. The growth in length of the neural tube is most rapid at its anterior end, which is also larger than the posterior end. By the 25th day, three vesicles are visible in the neural tube. The most anterior is the future forebrain or prosencephalon, and its cavity is the future third ventricle (106). At the beginning of the fifth week, in an embryo of about 8 mm, telencephalic vesicles arise as bilateral evaginations of the lateral wall of the prosencephalon. The lateral ventricles then arise as the cavities of these telencephalic vesicles (31).

Rebollo has described four stages in the process of transformation of these primitive telencephalic vesicles to the shape and size of adult ventricles (85). In the first stage, the telencephalic vesicle has a hemispheric shape, as does the ventricle that represents its cavity. The second stage is the stage of reniform ventricle, resulting from the expansion of the telencephalic ventricle cephalad, caudad, and dorsally. The ventricle now has an anterior pole, the future frontal horn, and a posterior pole destined to become the temporal horn. The ventricular cavity assumes a "U" shape in the third stage, due to the formation of the temporal pole. This occurs in the third gestational month. Closely following this development an occipital ventricular projection appears and the ventricular system now approximates the adult ventricular system in its overall component parts. The occipital pole, although clearly definable, is variable in size. The ventricular size is relatively large at this stage.

The final stage is that of definitive casting. In the first period of this stage, there is a further increase in the ventricular size from about one half to five sixths of the telencephalic vesicle. The CSF does not circulate from the ventricles until an opening in the roof of the fourth ventricle forms in the third gestational month. The foramen of Magendie (and later the foramina of Luschka) decompresses the ventricular cavities (85; 58). In addition to this ventricular decompression, growth of the ventricular wall and formation of the interhemispheric structures also play an important role in the reduction of the size and in the shaping of the lateral ventricles (42). The wall of the telencephalon has three layers by the end of the third fetal month. The ventricular wall is covered partially by ependyma but mostly by undifferentiated neuroepithelium (93). The occipital horns are not completely lined by ependyma until 22 weeks’ gestation. Neuroblasts of the subventricular zone migrate toward the cortical surface along radial glial guide fibers. Increase in the size and volume of the cerebral cortex and white matter, myelination of the fibers in the intermediate zone, and decompression of the ventricular cavities result in reduction of the overall cerebral ventricular size. Reduction in the size and shape of the frontal projections of the primitive ventricles is due to the growth and development of the striate nuclei, the corpus callosum, and the cerebral trigone. These events are largely completed by the fifth month of gestation. The fibers of the corpus callosum, the forceps and the tapetum, the internal parieto-occipital fissure, and the calcarine fissure all play a part in shaping and reducing the size of the occipital horns. These developmental steps are mostly completed by the sixth fetal month (85).

When agenesis of the corpus callosum occurs, the callosal axons that were unable to cross the midline form an abnormal fasciculus that courses rostrocaudally. It is called bundle of Probst and corresponds to those aberrant fibers. It can be demonstrated by MRI and direct neuropathological examination (92; 94).

Diagnostic workup

Cranial ultrasound, CT scan, or MRI scan reveals the peculiar ventricular configuration called colpocephaly. Sagittal and transverse sections provide distinct views and are highly recommended (43). Colpocephaly is often associated with agenesis of the corpus callosum; discrepancy between frontal and occipital horn sizes is characteristic, particularly on MRI sagittal sections (03).

Colpocephaly in a newborn (cranial ultrasonography and CT)

(A) Diagnosis of hydrocephalus was made in utero by ultrasonography. (B and C) Coronal sections of ultrasonography showing significant dilatation of occipital horns with vertical but normal in size front horns. Choroid plexi are n...

MRI, including the total midsagittal cross-sectional area of the corpus callosum, is helpful to visualize anomalies of this commissure (51). Colpocephaly may be detected by ultrasonography in the fetus in late gestation (18) or in the neonate. Prenatal MRI is useful and may confirm colpocephaly if ultrasound findings are nonspecific, and it provides additional information to define associated anomalies (59; 104).

Bilateral colpocephaly in 36-week fetus (MRI)

This prenatal axial MRI shows bilateral colpocephaly in a 36-week fetus with normal corpus callosum. (Contributed by Dr. Laura Flores-Sarnat.)

Also, CT and MRI scans, reveal associated cerebral anomalies that may be present. MRI may further disclose the periventricular white matter abnormalities that indicate a perinatal etiology.

Colpocephaly in 20-month-old girl (MRI)

Prenatal MRI can also suggest specific pathologies if there is abnormal morphology of the ventricles. For example, angular ventricles may indicate spina bifida; colpocephaly often indicates agenesis of the corpus callosum (88). Prenatal MRI is a useful second-line imaging modality in fetuses with mild ventriculomegaly, particularly for diagnosis of corpus callosum agenesis or hypogenesis (62). In a study over a 10-year period, agenesis and partial agenesis of the corpus callosum were detected by prenatal sonography; in most cases colpocephaly was present. Prenatal MRI was particularly useful for demonstrating some additional cerebral anomalies such as late sulcation, migrational pathological conditions, and heterotopia. Regarding pregnancy outcome, isolated partial agenesis of the corpus callosum was not better than that of complete agenesis of the corpus callosum reported in other series (107).

Bilateral colpocephaly (MRI)

Axial MRI in 6-year-old girl with severe congenital microcephaly shows bilateral colpocephaly (corpus callosum present). Genetic diagnosis: primordial microcephalic dwarfism with confirmed COL6A3 mutation. (Contributed...

In patients with epilepsy, very often the interictal electroencephalograms show either unilateral or synchronous bilateral spikes (and wave) or slowing of the basic activity in the occipital area.

In patients with Nijmegen breakage syndrome presenting brain abnormalities, including colpocephaly, computed tomography is contraindicated because their inherited susceptibility to malignancy and hypersensitivity to x-ray and gamma-radiation. MRI is the method of choice in diagnostic imaging in these patients (10).

Investigations for congenital infections should include congenital Zika syndrome, where colpocephaly is a common finding (77); in some cases, a spectrum with less severe presentation has been described (05). A study reported neuroimaging findings in Zika virus infection during the first trimester and postnatal age (108). From a cohort of 214 women referred for Zika virus symptoms during pregnancy who had monthly fetal ultrasound scans, 12 showed fetal brain malformations (91). Ophthalmological evaluation should be done in every child with suspicion of congenital infections. Distinctive retinal abnormalities are seen in Aicardi syndrome (21). Chromosomal analysis may reveal mosaicism as in trisomy 8 and 9 (Table 1) and also may show a chromosome 17 microdeletion associated with some lissencephalic conditions (34). Patients with dysmorphic features associated with focal occipital epilepsy, colpocephaly, and dysgenesis of the corpus callosum should be considered for testing for 6q subtelomere deletions (36). When suspicion of Chudley-McCullough syndrome exists, genetic testing for GPSM2 gene is recommended (89). In an infant with severe developmental delay, microcephaly was detected at 22 weeks of gestation by echosonography. Brain MRI showed colpocephaly associated with hypoplasia of the corpus callosum and lissencephaly (pachygyria) with cerebellar hypoplasia, and corpus callosum hypoplasia (98).

PET may disclose severe reduction in regional glucose consumption in patients with partial epilepsy (109). Other investigations depend on the neurologic condition associated with colpocephaly. With fMRI, reorganization of visual cortical areas can be demonstrated in patients with colpocephaly associated with agenesis of the corpus callosum (15). In a minority of cases, surgery is required when colpocephaly presents with obstructive hydrocephalus; in those patients, postoperative follow-up with neuroimaging is necessary (76). Iniencephaly, a rare anomaly of neural tube with occipital bone defects at foramen magnum and other anomalies in a fetus with colpocephaly and bifid spine, was demonstrated by MRI and neuropathology (26).

With diffusion imaging and fibre tractography, in seven children between 9- and 13-years-old it was demonstrated that the Probst bundles have a wider connectivity than the previously described rostrocaudal direction, and a microstructure rather distinct from the cingulum but relatively close to callosal remnant fibres (13).

Media

References

01: Aguglia U, Gambardella A, Breedveld GJ, et al. Suggestive evidence for linkage to chromosome 13qter for autosomal dominant type 1 porencephaly. Neurology 2004;62(9):1613-5. PMID 15136694
02: Aissa A, Ben Lassoued M, Alouini R. [Heterotopic gray matter: A rare cause of epilepsy]. Rev Neurol (Paris) 2013;169(3):223-7. PMID 23434142
03: Anca IA, Brezan F, Vălean C, et al. Spectrum of corpus callosum agenesis – two different clinical patterns. Medical Ultrasonography 2008;10:47-54.
04: Ansary A, Manjunatha CM, Ibhanesebhor S. Prenatal diagnosis of colpocephaly with absent corpus callosum. Scott Med J 2015;60(1):e19-23. PMID 25468365
05: Aragao MFVV, Holanda AC, Brainer-Lima AM, et al. Nonmicrocephalic infants with congenital Zika syndrome suspected only after neuroimaging evaluation compared with those with microcephaly at birth and postnatally: how large is the Zika virus "iceberg"? AJNR Am J Neuroradiol 2017;38(7):1427-34. PMID 28522665
06: Ashrafi MR, Hussain I, Zamani SMA. Möebius syndrome and corpus callosum agenesis; a case report. Acta Medica Iranica 2006;44:432-4.
07: Barth PG, Mullaart R, Stam FC, Slooff JL. Familial lissencephaly with extreme neopallial hypoplasia. Brain Dev 1982;4:145-51. PMID 7091570
08: Bartha-Doering L, Schwartz E, Kollndorfer K, et al. Effect of corpus callosum agenesis on the language network in children and adolescents. Brain Struct Funct 2021;226(3):701-13. PMID 33496825
09: Bartolomé EL, Cottura JC, Britos Frescia R, Domínguez RO. Asymptomatic colpocephaly and partial agenesis of corpus callosum. Neurologia 2016;31(1):68-70. PMID 25440066
10: Bekiesinska-Figatowska M, Chrzanowska KH, Jurkiewicz E, et al. Magnetic resonance imaging of brain abnormalities in patients with the Nijmegen breakage syndrome. Acta Neurobiol Exp (Wars) 2004;64(4):503-9. PMID 15586667
11: Bekiesinska-Figatowska M, Chrzanowska KH, Sikorska J, et al. Cranial MRI in the Nijmegen breakage syndrome. Neuroradiology 2000;42:43-7. PMID 10663471
12: Benda CE. Microcephaly. Am J Psychiat 1940;97:1135-46.
13: Benezit A, Hertz-Pannier L, Dehaene-Lambertz G, et al. Organising white matter in a brain without corpus callosum fibres. Cortex 2015;63:155-71. PMID 25282054
14: Bhattacharjee A, Chakraborty A, Purkaystha P. Frontoethmoidal encephalomeningocoele with colpocephaly: case report and clinical review. J Laryngol Otol 2008;122(3):321-3. PMID 17666141
15: Bittar RG, Ptito A, Dumoulin SO, Andermann F, Reutens DC. Reorganisation of the visual cortex in callosal agenesis and colpocephaly. J Clin Neurosci 2000;7(1):13-5. PMID 10847643
16: Blumenthal JD, Baker EH, Lee NR, et al. Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study. Neuroimage Clin 2013;2:197-203. PMID 23667827
17: Bodensteiner J, Gay CT. Colpocephaly: pitfalls in the diagnosis of a pathologic entity utilizing neuroimaging techniques. J Child Neurol 1990;5:166-8. PMID 2345283
18: Bork MD, Smeltzer JS, Egan JF, et al. Prenatal diagnosis of intracranial lipoma associated with agenesis of the corpus callosum. Obstet Gyn 1996;87(5 Pt 2):845-48. PMID 8677111
19: Campeau PM, Ah Mew N, Cartier L, et al. Prenatal diagnosis of monosomy 1p36: a focus on brain abnormalities and a review of the literature. Am J Med Genet A 2008;146A(23):3062-9. PMID 19006213
20: Cardoza JD, Goldstein RB, Filly RA. Exclusion of fetal ventriculomegaly with a single measurement: the width of the lateral ventricular atrium. Radiology 1988;169(3):711-4. PMID 3055034
21: Carney SH, Brodsky MC, Good WV. Aicardi syndrome: more than meets the eye. Surv Ophthalmol 1993;37:419-24. PMID 8516753
22: Cerullo A, Marini C, Cevoli S, Carelli V, Montagna P, Tinuper P. Colpocephaly in two siblings: further evidence of a genetic transmisión. Dev Med Child Neurol 2000;42(4):280-2. PMID 10795569
23: Chacon-Camacho OF, Vazquez J, Zenteno JC. Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome. Am J Med Genet A 2011;155A(7):1716-20. PMID 21626675
24: Chen CP, Liu YP, Lin SP, et al. Ventriculomegaly, intrauterine growth restriction, and congenital heart defects as salient prenatal sonographic findings of Miller-Dieker lissencephaly syndrome associated with monosomy 17p (17p13.2 --> pter) in a fetus. Taiwan J Obstet Gynecol 2010;49:81-6. PMID 20466299
25: Cheong JH, Kim CH, Yang MS, Kim JM. Atypical meningioma in the posterior fossa associated with colpocephaly and agenesis of the corpus callosum. Acta Neurochir Suppl 2012;113:161-71. PMID 22116445
26: Chikkannaiah P, Srinivasamurthy V, Satish Prasad BS, Lalyanayak P, Shivaram DN. Iniencephaly: radiological and pathological features of a series of three cases. J Neurosci Rural Pract 2014;5(4):389-93. PMID 25288843
27: Chodirker BN, Chudley AE, Toffler MA, Reed MH. Zimmerman-Laband syndrome and profound mental retardation. Am J Med Genet 1986;25(3):543-7. PMID 3789014
28: Chudley AE, McCullough C, McCullough DW. Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder. Am J Med Genet 1997;68:350-6. PMID 9024571
29: Conti V, Carabalona A, Pallesi-Pocachard E, et al. Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene. Brain 2013;136(Pt 11):3378-94. PMID 24056535
30: Davalos IP, García-Cruz D, García-Cruz MO, et al. Zimmermann-Laband syndrome: further clinical delineation. Genet Couns 2005;16(3):283-90. PMID 16261693
31: Davies J. Human developmental anatomy. New York: Ronald Pr, 1963.
32: Davila-Gutierrez G. Agenesis and dysgenesis of the corpus callosum. Sem Ped Neurol 2002;9:292-301. PMID 12523553
33: de Wit MC, Boekhorst F, Mancini GM, et al. Advanced genomic testing may aid in counseling of isolated agenesis of the corpus callosum on prenatal ultrasound. Prenat Diagn 2017;37(12):1191-7. PMID 28921563
34: Dobyns WB, Elias ER, Newlin AC, et al. Causal heterogeneity in isolated lissencephaly. Neurology 1992;42:1375-88. PMID 1620349
35: Dundar M, Caglayan AO, Saatci C, Cetin Z, Arslan K, Uzak AS. A case with a rare chromosomal abnormality: isochromosome 18p. Genet Couns 2010;21:69-74. PMID 20420032
36: Elia M, Striano P, Fichera M, et al. 6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases. Epilepsia 2006;47(5):830-8. PMID 16686647
37: Esenwa CC. Leaf DE. Colpocephaly in adults. BMJ Case Reports 2013;2013. PMID 23704444
38: Ferrie CD, Jackson GD, Giannakodimos S, Panayiotopoulos CP. Posterior agyria-pachygyria with polymicrogyria: evidence for an inherited neuronal migration disorder. Neurology 1995;45:150-3. PMID 7824106
39: Flores-Sarnat L. Hemimegalencephaly: part 1. J Child Neurol 2002;17(5):373-84. PMID 12150586
40: Flores-Sarnat L. Epilepsy in neurological phenotypes of epidermal nevus syndrome. J Pediatr Epilepsy 2016;5:97-110.
41: Garcia-Alix A, Blanco D, Cabanas F, et al. Early neurological manifestations and brain anomalies in Marden-Walker syndrome. Am J Med Gen 1992;44:41-5. PMID 1519648
42: Garg BP. Colpocephaly: an error of morphogenesis. Arch Neurol 1982;39:243-6. PMID 6978704
43: Guadarrama-Ortiz P, Choreño-Parra JA, de la Rosa-Arredondo T. Isolated agenesis of the corpus callosum and normal general intelligence development during postnatal life: a case report and review of the literature. J Med Case Rep 2020;14(1):28. PMID 32046774
44: Hager BC, Dyme ZI, Guertin SR, et al. Linear nevus sebaceous syndrome: megalencephaly and heterotopic gray matter. Pediatr Neurol 1991;7:45-9. PMID 2029293
45: Herskowitz J, Rosman NP, Wheeler CB. Colpocephaly: clinical, radiologic, and pathogenetic aspects. Neurology 1985;35:1594-8. PMID 4058748
46: Hung PC, Wang HS. Hemimegalencephaly: cranial sonographic findings in neonates. J Clin Ultrasound 2005;33(5):243-7. PMID 16047376
47: Iannetti P, Schwartz CE, Dietz-Band J, et al. Norman-Roberts syndrome: clinical and molecular studies. Am J Med Gen 1993;47:95-9. PMID 8368261
48: Ito Y, Oguni H, Funatsuka M, Osawa M. Clinical and EEG studies of symptomatic focal epilepsy in 7 patients with colpocephaly. No To Hattatsu 2008;40(3):244-8. PMID 18524261
49: Jayakumar PN, Verghese R, Paul D. Absent circle of Willis with vascular pollarding in an adult with colpocephaly: a developmental perspective. Neuroradiol J 2015;28(6):609-16. PMID 26443299
50: Kau T, Veraguth D, Schiegl H, Scheer I, Boltshauser E. Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum. Neuropediatrics 2012;43(1):44-7. PMID 22430160
51: Kawamura T, Nishio S, Morioka T, Fukui K. Callosal anomalies in patients with spinal dysraphism: correlation of clinical and neuroimaging features with hemispheric abnormalities. Neurol Res 2002;24(5):463-7. PMID 12117315
52: Kilic E, Utine GE, Boduroglu K. A case of Sotos syndrome with 5q35 microdeletion and novel clinical findings. Turk J Pediatr 2013;55(2):207-9. PMID 24192683
53: Knight JL, Barker MS, Edwards TJ, Barnby JM, Richards LJ, Robinson GA. Mirror movements and callosal dysgenesis in a family with a DCC mutation: Neuropsychological and neuroimaging outcomes. Cortex 2023;161:38-50. PMID 36889039
54: Koenigstein K, Gramsch C, Kolodziej M, et al. Chudley-McCullough syndrome: variable clinical picture in twins with a novel GPSM2 mutation. Neuropediatrics 2016;47(3):197-201. PMID 27064331
55: Kosky KM, Phenis R, Kiselica AM. Neuropsychological functioning in dysgenesis of the corpus callosum with colpocephaly. Appl Neuropsychol Adult 2022;29(6):1681-7. PMID 33721503
56: Landman J, Weitz R, Dulitzki F, et al. Radiological colpocephaly: a congenital malformation or the result of intrauterine and perinatal brain damage. Brain Dev 1989;11:313-6. PMID 2817296
57: Leal E, Macías-Gómez N, Rodríguez L, Mercado FM, Barros-Nunez P. Femoral-facial syndrome with malformations in the central nervous system. Clin Imaging 2003;27(1):23-6. PMID 12504316
58: Lemire RJ, Loeser JD, Leech RW, et al. Normal and abnormal development of the human nervous system. Hagerstown: Harper & Row, 1975.
59: Levine D, Trop I, Mehta TS, Barnes P. MR Imaging appearance of fetal cerebral ventricular morphology. Radiology 2002;223(3):652-60. PMID 12034931
60: Lewis ME, Rosenbaum PL, Paes BA. Baller-Gerold syndrome associated with congenital hydrocephalus. Am J Med Gen 1990;40(3):307-10. PMID 1951434
61: Lieb JM, Ahlhelm FJ. Balkenfehlbildungen [Agenesis of the corpus callosum]. Radiologe 2018;58(7):636-45. [Article in German] PMID 29774379
62: Manfredi R, Tognolini A, Bruno C, Raffaelli R, Franchi M, Pozzi Mucelli R. Agenesis of the corpus callosum in fetuses with mild ventriculomegaly: role of MR imaging. Radiol Med 2010;115(2):301-12. PMID 20017009
63: Mathur S, Mathur A, Dubey T, et al. Shapiro syndrome. J Assoc Physicians India 2013;61(6):418-20. PMID 24640213
64: Mourgela S, Anagnostopoulou S, Sakellaropoulos A, Gazelopoulou I. A case of cerebral hypoxia with co-existing corpus callosum agenesis and colpocephaly manifesting as mild mental retardation. J Neurol Sci (Turkish) 2009;26:79-82.
65: Nadkarni TD, Menon RK, Shah AH, Goel A. Chudley McCullough syndrome. Childs Nerv Syst 2008;24(5):541-4. PMID 17962956
66: Nagamani SC, Erez A, Eng C, et al. Interstitial deletion of 6q25.2-q25.3: a novel microdeletion syndrome associated with microcephaly, developmental delay, dysmorphic features and hearing loss. Eur J Hum Genet 2009;17(5):573-81. PMID 19034313
67: Nakada Y, Hyakuna N, Suzuki Y, et al. A case of pseudo-Zellweger syndrome with a possible bifunctional enzyme deficiency but detectable enzyme protein. Comparison of two cases of Zellweger syndrome. Brain Dev 1993;15:453-6. PMID 8147505
68: Nasrat T, Seraji-Bozoergzad N. Incidentally discovered colpocephaly and corpus callosum agenesis in asymptomatic elderly patient. Ibnosina J Med BS 2015;7(2):56-8.
69: Neal JB, Filippi CG, Mayeux R. Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum. BMC Neurol 2015;15:116. PMID 26209096
70: Nigro MA, Wishnow R, Maher L. Colpocephaly in identical twins. Brain Dev 1991;13:187-9. PMID 1928612
71: Noorani PA, Bodensteiner JB, Barnes PD. Colpocephaly: frequency and associated findings. J Child Neurol 1988;3:100-4. PMID 3259595
72: Ostergaard E, Pedersen VF, Skriver EB, Brondum-Nielsen K. Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities. Am J Med Genet A 2004;124(1):74-8. PMID 14679590
73: Ozawa H, Takayama C, Nishida A, Nagai T, Nishimura G, Higurashi M. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II. Brain Dev 2005;27(3):237-40. PMID 15737708
74: Paladini D, Pastore G, Cavallaro A, Massaro M, Nappi C. Agenesis of the fetal corpus callosum: sonographic signs change with advancing gestational age. Ultrasound Obstet Gynecol 2013;42:687-90. PMID 23671008
75: Parker C, Eilbert W, Meehan T, Colbert C. Colpocephaly diagnosed in a neurologically normal adult in the emergency department. Clin Pract Cases Emerg Med 2019;3(4):421-4. PMID 31763604
76: Patnaik A, Mishra SS, Mishra S, Das S. A rare case of colpocephaly with macrocephaly successfully treated with ventriculo-peritoneal shunting. J Pediatr Neurosci 2012;7(2):150-1. PMID 23248702
77: Petribu NCL, Fernandes ACV, Abath MB, et al. Common findings on head computed tomography in neonates with confirmed congenital Zika syndrome. Radiol Bras 2018;51(6):366-71. PMID 30559553
78: Pieh C, Goebel HH, Engle EC, Gottlob I. Congenital fibrosis syndrome associated with central nervous system abnormalities. Graefes Archi Clin Exp Opht 2003;241(7):546-53. PMID 12819981
79: Pratico AD, Falsaperla R, Comella M, Belfiore G, Polizzi A, Ruggieri M. Case report: A gain-of-function of hamartin may lead to a distinct “inverse TSC1-hamartin” phenotype characterized by reduced cell growth. Front Pediatr 2023;11:1101026. PMID 37063680
80: Prayer D, Paladini D, Deprest J. Current controversies in prenatal diagnosis 1: should MRI be performed on all fetuses with mild ventriculomegaly? Prenat Diagn 2019;39(5):331‐8. PMID 30614017
81: Pungavkar SA, Sainani NI, Karnik AS, et al. Antenatal diagnosis of iniencephaly: sonographic and MR correlation: a case report. Korean J Radiol 2007;8(4):351-5. PMID 17673848
82: Puvabanditsin S, Garrow E, Chinnakaruppan N, Bhatt M, Brandsma E. Calcified meconium balls in a newborn: an unusual case with imperforate anus, rectourinary fistula, colpocephaly, and agenesis of corpus callosum. Pediatr Surg Int 2009;25:441-3. PMID 19319541
83: Puvabanditsin S, Garrow E, Ostrerov Y, Trucanu D, Ilic M, Cholenkeril JV. Colpocephaly: a case report. Am J Perinatol 2006;23(5):295-7. PMID 16799912
84: Puvabanditsin S, Herrera-Garcia G, Gengel N, et al. Partial trisomy 4p and partial monosomy 13q: case report and a literature review. Genet Couns 2016;27(1):35-41. PMID 27192890
85: Rebollo MA. A contribution to the study of the development of lateral ventricles. Acta Neurol 1956;2:99-106.
86: Reis LM, Maheshwari M, Capasso J, Atilla H, et al. Axenfeld-Rieger syndrome: more than meets the eye. J Med Genet 2023;60(4):368-79. PMID 35882526
87: Respondek-Liberska M, Smigiel R, Zielinski A, Sasiadek MM. Progressive development of sonographic features in prenatal diagnosis of Apert syndrome--case report and literature review. Ginekol Pol 2010;81(12):935-9. PMID 21391441
88: Rickard S, Morris J, Paley M, Griffiths P, Whitby E. In utero magnetic resonance of non-isolated ventriculomegaly: does ventricular size or morphology reflect pathology. Clin Radiol 2006;61:844-53. PMID 16978979
89: Samanta D, Ramakrishnaiah R. Neuroimaging findings in a child with sensorineural hearing loss. Pediatr Neurol 2018;88:75-6. PMID 30327240
90: Sandhu PS, Khong K, McGahan JP, Ro K, Lloyd WC 3rd, Towner D. Novel presentation of Aicardi syndrome with agenesis of the corpus callosum and an orbital cyst. J Ultrasound Med 2010;29(5):843-6. PMID 20427798
91: Sanz Cortes M, Rivera AM, Yepez M, et al. Clinical assessment and brain findings in a cohort of mothers, fetuses and infants infected with ZIKA virus. Am J Obstet Gynecol 2018;218(4):440.e1-440.e36. PMID 29353032
92: Sarnat HB. Cerebral Dysgenesis: Embryology and Clinical Expression. New York: Oxford University Press, 1992a:236-44.
93: Sarnat HB. Regional differentiation of the human fetal ependyma: immunocytochemical markers. J Neuropathol Exp Neurol 1992b;51:58-75. PMID 1371311
94: Sarnat HB. Agenesis and dysgenesis of the forebrain commissures. In: Sarnat HB, Curatolo P, editors. Malformations of the nervous system; Handbook of Clinical Neurology, Vol. 87. Amsterdam: Elsevier, 2008:67-87.
95: Savasta S, Ruggieri M, Pavone P, et al. Microcephaly associated with Legg-Calve-Perthes disease in two siblings. Neurol Sci 2012;33(6):1401-5. PMID 22222936
96: Shaenboen MJ. Colpocephaly and Gilles de la Tourette's syndrome. Arch Neurol 1984;41:1023. PMID 6591876
97: Shih JC, Peng SS, Hsiao SM, et al. Three-dimensional ultrasound diagnosis of Larsen syndrome with further characterization of neurological sequelae. Ultrasound Obstet Gynecol 2004;24(1):89-93. PMID 15229923
98: Shimojima K, Narita A, Maegaki Y, Saito A, Furukawa T, Yamamoto T. Whole-exome sequencing identifies a de novo TUBA1A mutation in a patient with sporadic malformations of cortical development: a case report. BMC Res Notes 2014;7:465. PMID 25053001
99: Singer JR, Droste PJ, Hassan AS. Congenital cystic eye in utero: novel prenatal magnetic resonance imaging findings. JAMA Ophthalmol 2013;131(8):1092-95. PMID 23807213
100: Spencer-Smith M, Knight JL, Lacaze E, et al. Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations. Dev Med Child Neurol 2020;62(6):758-62. PMID 32060908
101: Stouffs K, Moortgat S, Vanderhasselt T, et al. Biallelic mutations in RTTN are associated with microcephaly, short stature and a wide range of brain malformations. Eur J Med Genet 2018;61(12):733-7. PMID 29883675
102: Suzuki Y, Shimozawa N, Takahashi Y, Imamura A, Kondo N, Orii T. Peroxisomal disorders: clinical aspects. Ann N Y Acad Sci 1996;804:442-9. PMID 8993563
103: Tsitouridis I, Michaelides M, Tsantiridis Ch, Spyridi S, Arvanity M, Efstratiou I. Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies. Diagn Interv Radiol 2010;16(2):116-21. PMID 19847771
104: Tonni G, Azzoni D, Ventura A, Ambrosetti F, De Felice C. "Multicystic dysplastic kidney (Potter type II syndrome) and agenesis of corpus callosum (ACC) in two consecutive pregnancies: a possible teratogenic effect of electromagnetic exposure in utero". Fetal Pediatr Pathol 2008;27(6):264-73. PMID 19065324
105: Tsai MC, Cheng HY, Su MT, Chen M, Kuo PL. Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells. Taiwan J Obstet Gynecol 2014;53(4):598-601. PMID 25510708
106: Tuchmann-Duplessis H, Auroux M, Haegel P, Hurley LS. Illustrated human embryology. Vol 3. Nervous system and endocrine glands. New York: Springer-Verlag, 1974.
107: Volpe P, Paladini D, Resta M, et al. Characteristics, associations and outcome of partial agenesis of the corpus callosum in the fetus. Ultrasound Obstet Gynecol 2006;27(5):509-16. PMID 16619387
108: Werner H, Sodré D, Hygino C, et al. First-trimester intrauterine Zika virus infection and brain pathology: prenatal and postnatal neuroimaging findings. Prenat Diagn 2016;36(8):785-9. PMID 27316349
109: Wunderlich G, Schlaug G, Jancke L, Benecke R, Seitz RJ. Adult-onset complex partial seizures as the presenting sign in colpocephaly: MRI and PET correlations. J Neuroimaging 1996;6(3):192-5. PMID 8704298
110: Yakovlev PI, Wadsworth RC. Schizencephalies: a study of the congenital clefts in the cerebral mantle. J Neuropathol Exp Neurol 1946;5:169-206. PMID 20993391
111: Yalcin AD, Toydemir HE, Celebi LG, Forta H. Panayiotopoulos syndrome with coincidental brain lesions. Epileptic Disord 2009;11:270-6. PMID 19736167
112: Yang R, Cao Y, He D, Dang W, Qiu C, Zhang W. Social anxiety disorder in an adolescent with agenesis of the corpus callosum: a case report. BMC Psychiatry 2022;22(1):714. PMID 36384487
113: Yao G, Chen XN, Flores-Sarnat L, et al. Deletion of chromosome 21 disturbs human brain morphogenesis. Genet Med 2006;8:1-7. PMID 16418593
114: Yaroglu Kazanci S. Attention deficit hyperactivity disorder in a patient with congenital mirror movement disorder and colpocephaly. Iran J Pediatr 2015;25(5):e1787. PMID 26495087
115: Zervos A, Hunt KE, Tong HQ, et al. Clinical, genetic and histopathologic findings in two siblings with muscle-eye-brain disease. Eur J Opht 2002;12(4):253-61. PMID 12219993

Contributors

All contributors' financial relationships have been reviewed and mitigated to ensure that this and every other article is free from commercial bias.

Author

Laura Flores-Sarnat MD

Dr. Flores-Sarnat of the University of Calgary has no relevant financial relationships to disclose.
See Profile

Editor

Harvey B Sarnat MS MD FRCPC

Dr. Sarnat of the University of Calgary has no relevant financial relationships to disclose.
See Profile

Former Authors

Bhuwan Garg MD

Patient Profile

Age range of presentation: 0 month to 18 years
Sex preponderance: male=female
Heredity: Usually sporadic in isolated cases. Variable when associated with other conditions.
Population groups selectively affected: none selectively affected
Occupation groups selectively affected: none selectively affected

This is an article preview.
Start a Free Account
to access the full version.

Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.

Questions or Comment?

MedLink®, LLC

3525 Del Mar Heights Rd, Ste 304
San Diego, CA 92130-2122

Toll Free (U.S. + Canada): 800-452-2400

US Number: +1-619-640-4660

Support: service@medlink.com

Editor: editor@medlink.com

ISSN: 2831-9125

Colpocephaly

Associated Disorders

6q terminal deletions
Agenesis of the corpus callosum
Aicardi syndrome
Chudley-McCullough syndrome
Deletion of chromosome 21
- Hemimegalencephaly
- Linear nevus sebaceous syndrome
- Lissencephaly type 1
- Marden-Walker syndrome
- Norman-Roberts syndrome
- Perinatal hypoxic-ischemic encephalopathy
- periventricular leukomalacia
- Shapiro syndrome
- Tourette syndrome
- Zellweger syndrome

Differential Diagnosis

colpocephaly associated with other CNS malformations
radiologic colpocephalic ventricular configuration due to acquired periventricular leukomalacia
obstructive hydrocephalus

Also Relevant

Aicardi syndrome
Hemimegalencephaly
Malformations of the brain
Septo-optic-pituitary dysplasia complex
Tourette syndrome

Clinical Categories

Developmental Malformations

Colpocephaly

Introduction

Overview

Key points

Historical note and terminology

Clinical manifestations

Presentation and course

Table 1. Some Clinical Conditions in Which Colpocephaly Is Seen

Prognosis and complications

Clinical vignette

Biological basis

Etiology and pathogenesis

Epidemiology

Prevention

Differential diagnosis

Confusing conditions

Associated or underlying disorders

Diagnostic workup

Management

Special considerations

Pregnancy

Anesthesia

Media

References

Contributors

Author

Editor

Former Authors

Patient Profile

ICD & OMIM codes

This is an article preview. Start a Free Account to access the full version.

Questions or Comment?

Also in This Category

X-linked hydrocephalus (L1 syndrome)

Cerebro-oculo-facio-skeletal syndrome

Schizencephaly

Fetal anticonvulsant syndrome

Rhombencephalosynapsis

Malformations of the brain

Von Hippel-Lindau disease

Vein of Galen malformations

This is an article preview.
Start a Free Account
to access the full version.