Title: Pelizaeus-Merzbacher disease – Classical Form: A rare case report from Katihar Medical College, Katihar, Bihar
Authors: Dr Gupta Bhushan Devendrakumar, Dr Ashit Kumar, Dr (Professor) Ghazi Sharique Ahmad, Dr Aromita Deb
DOI: https://dx.doi.org/10.18535/jmscr/v10i1.17
Abstract
Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy characterized by developmental delay, nystagmus, hypotonia, spasticity, and variable intellectual deficit. First described clinically in 1885. The causative gene is PLP1. It is classified into three sub-forms based on the age of onset and severity: connatal, transitional, and classic PMD.
Keywords: Pelizaeus-Merzbacher Disease, developmental delayed, hypotonia, intellectual deficit, Head nodding, nystagmus.
