Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characterized by unusual, rapidly progressive developmental regression due to additional pathogenic mutation in ARSA. Considering the 1 in 100 chance of an MLD carrier, co-occurrence of PMS and MLD in a patient is possible if either parent carries a heterozygous ARSA mutation.

Source: Brain and Development - February 25, 2020 Category: Neurology Authors: Hyunji Ahn, Go Hun Seo, Changwon Keum, Sun Hee Heo, Taeho Kim, Jeongmin Choi, Mi-Sun Yum, Beom Hee Lee Tags: Case Report Source Type: research