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Achilles tendon enlarged as a yellow, firm hypertrophic neoplasm

Intraoperative photograph showing an incision over the left Achilles tendon. The tendon was enlarged as a yellow, firm hypertrophic neoplasm. (Source: Koroglu M, Karakaplan M, Gündüz E, et al. Cerebrotendinous xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene. Orphanet J Rare Dis 2024;19[1]:53. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)

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  • Bulbar palsy
  • Cerebellar syndrome
  • Chronic diarrhea in children
  • Degenerative CNS disease
  • Dementia
  • Epileptic seizures
  • Gallstones
  • Ischemic heart disease
  • Juvenile cataracts
  • Kidney stones
  • Leukoencephalopathy
  • Marinesco-Sjogren syndrome
  • Mental retardation
  • Mitochondrial myopathy
  • Myelopathy
  • Myopathic-like faces
  • Nephrocalcinosis
  • Nephrolithiasis
  • Neurometabolic disease
  • Osteoporosis
  • Paraparesis
  • Paraplegia
  • Parkinsonism
  • Peripheral polyneuropathy
  • Pes cavus
  • Pontocerebellar degeneration
  • Psychiatric disorders
  • Xanthomata