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Year : 2020  |  Volume : 15  |  Issue : 3  |  Page : 270-273

Hypomyelination and congenital cataract: Three siblings presentation

1 Department of Pediatric Neurology, Akdeniz University School of Medicine, Antalya, Turkey
2 Department of Pediatric Neurology, Ankara Children’s Hospital Hematology-Oncology Research and Training Hospital, Ankara, Turkey
3 Department of Pediatric Neurology, Medipol University, Istanbul, Turkey
4 Intergen Genetic Diagnostic Research Center, Ankara, Turkey

Correspondence Address:
Zeynep Selen Karalok
Pınarbaşı Mah, Dumlupınar Bul. Akdeniz University Faculty of Medicine, Department of Pediatric Neurology, Konyaaltı, Antalya.
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_161_18

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Hypomyelination and congenital cataract (HCC) is a condition, which is caused by mutations in the FAM126A gene and is characterized by congenital cataract, progressive neurologic impairment, and myelin deficiency in both the central and peripheral nervous system. We present the findings of three siblings who applied to us with the same clinical features. These patients were referred to our clinic due to the presence of bilateral congenital cataract and progressive neurological impairment with peripheral neuropathy. Brain magnetic resonance imaging (MRI) showed diffuse hypomyelination, whereas neurophysiological studies showed sensorimotor peripheral polyneuropathy. Cases with hypomyelination in MRI represent the largest group of undiagnosed diseases among patients with leukoencephalopathies. To diagnose cases with peripheral neuropathy, their clinical and neuroradiological findings must be identified. These findings can guide clinicians to appropriate molecular investigations.


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