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Abstract

April to June 2020 | Vol. 13 | Issue 2 | Page 02-04
Novel Bi-allelic Variants in GJC2 Associated Pelizaeus-Merzbacher-like Disease 1: Clinical Clues and Differential Diagnosis
Veronica Arora, Sapna Sandal, Ishwar Verma

Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi
Address for Correspondence Email: icverma@gmail.com
Abstract
Hypomyelinating Leukodystrophy-2 (HLD2) or Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy characterized by nystagmus, hypotonia, and developmental delay. It is a close differential diagnosis for Pelizaeus- Merzbacher disease (PMD) and should be suspected in patients with features of PMD but who are negative on testing for duplication of the PLP1 gene. We describe a case of a 16-month-old boy with a novel homozygous mutation in the GJC2 gene resulting in hypomyelinating leukodystrophy- 2. The clinical clues as well as features of other disorders presenting similarly are discussed.
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