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Updated: May 15, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
Published on: October 21, 2014
An Indian boy with a novel leukodystrophy: 4H syndrome
Prashant Jauhari1, Jitendra Kumar Sahu, Pratibha Singhi
11Pediatric Neurology Division, Department of Pediatrics, Post Graduate Institute of Medical Education & Research, Chandigarh, India.
Abstract:
4H syndrome is a rare and distinct leukodystrophy characterized by hypomyelination, hypogonadotropic hypogonadism, and hypodontia. Detecting signs of pubertal growth failure and abnormal dentition offer the clues to the diagnosis. We present an Indian boy with this novel syndrome with previously unreported feature of bilateral undescended testes. We also provide a brief overview of all published cases.
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