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Developmental delay and assessment in an infant with PCWH syndrome: A case report
Ashna Kumar1, Michelle do Rosario2, Shahyan Siddiqui3, Divyani Garg4, Anju Shukla2, Suvasini Sharma1
1 Department of Pediatrics, Neurology Division, Lady Hardinge Medical College and Associated Kalawati Saran Children’s Hospital, New Delhi, India
2 Department of Medical Genetics, Kasturba Medical College, Manipal, Karnataka, India
3 Department of Neuroimaging and Intervention Radiology, STAR Institute of Neurosciences, STAR Hospitals, Hyderabad, Telangana, India
4 Department of Neurology, Safdarjung Hospital, New Delhi, India
Correspondence Address:
Suvasini Sharma,
Department of Pediatrics, Neurology Division, Lady Hardinge Medical College and Associated Kalawati Saran Children’s Hospital, New Delhi
India
 Source of Support: None, Conflict of Interest: None
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Peripheral demyelinating polyneuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung’s disease is a rare genetic disorder caused by de novo variants in the SOX10 gene. The SOX10 gene is expressed in the neural crest cells during early embryonic development and in the glial cells of the peripheral and central nervous systems during late embryonic development, as well as in adults. Here, we describe our findings in a 9-month-old male infant presenting with failure to thrive, global developmental delay, seizures, hypotonia, heterochromia iridis, hypopigmented skin macules, pendular nystagmus, Hirschsprung’s disease, and hearing impairment. Nerve conduction studies were suggestive of sensorimotor demyelinating polyneuropathy. Brain magnetic resonance imaging showed diffuse hypomyelination. Targeted genetic testing revealed a novel stop-loss variant in the SOX10 gene (NM_006941.4). This case highlights the importance of clinical phenotyping that can aid in targeted genetic testing. |
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