Supporting Data docx 203KB

Dancing eyes and lazy gut in an infant with developmental delay

Title: Dancing Eyes and Lazy Gut in an Infant- the Missing Link Abstract: Peripheral Demyelinating Polyneuropathy, Central Hypomyelination, Waardenburg Syndrome and Hirschsprung Disease (PCWH) syndrome is a rare neurocristopathological variant of Waardenburg syndrome type 4. PCWH Syndrome is a rare disorder caused by mutations in various genes of which SOX10 gene is implicated with the most severe phenotype. SOX10 is expressed in the neural crest cells during early embryonic development and in glial cells of the peripheral and central nervous systems during late embryonic development and in adults. We hereby describe a case report of a 9 months old male child presenting with failure to thrive, global developmental delay, seizures, hypotonia, heterochromia irides, hypopigmented skin macules (Figure1 and Figure2), pendular nystagmus, Hirschsprung disease and hearing impairment. The nerve conduction studies were suggestive of sensori-motor demyelinating polyneuropathy. The MRI of the brain showed diffuse hypomyelination. Targetted genetic testing showed non-sense mutation of SOX-10 gene. This case highlights the importance of clinical phenotyping which can help in appropriate targeted genetic testing.
Keywords: Waardenburg, Hypomyelination, Pendular nystagmus, Hirschsprung disease