Epilepsy & Seizures
Self-limited (familial) neonatal epilepsy
Oct. 02, 2024
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Mucolipidosis III alpha/beta in a 14-month-old girl
(A) Abnormal facial features (ie, closed anterior fontanelle, prominent zygomatic process, long eyelashes, sparse hair, upturned nostrils, a sharp beak-like mouth, low-set ears, and short neck). (B) Wrist joint seam showing significant stenosis. (C) Spine x-ray: slight scoliosis of the spine and slightly narrow vertebral ends of ribs. (D) Spine x-ray: slight kyphosis at the junction of the thoracolumbar segment, short anterior and posterior diameters of some thoracolumbar vertebrae, and beaked shape of the anterior edge of the vertebral bodies. (E) Spine x-ray: irregular acetabula and lower edge of iliac bones. (F) Brain MRI: poor white matter development. (G) Brain MRI: small frontal and temporal lobes, wide extracerebral space, and thin corpus callosum. (Source: Mao SJ, Zu YM, Dai YL, Zou CC. Case report: mucolipidosis II and III alpha/beta caused by pathogenic variants in the GNPTAB gene [mucolipidosis]. Front Pediatr 2022;10:852701. Creative Commons Attribution License [CC BY], creativecommons.org/licenses/by/4.0.)