Hypomyelinating Leukodystrophy-10 Presenting with an Additional Atypical Feature of Increased Body Hair and Mongolian Spots

August 2025 in “ International Journal of Contemporary Pediatrics ”

Gayatri Nerakh, Venugopal Satidevi Vineeth, Ashwin Dalala, Shagun Aggarwal

Studysummary This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.

Our plain-language summary. Not medical advice or a treatment recommendation. Consult a qualified healthcare professional before changing treatment. Full disclaimer ·

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