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Case Reports
. 2020 May;42(5):414-417.
doi: 10.1016/j.braindev.2020.02.003. Epub 2020 Feb 26.

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

Hyunji Ahn  1 , Go Hun Seo  2 , Changwon Keum  2 , Sun Hee Heo  3 , Taeho Kim  3 , Jeongmin Choi  3 , Mi-Sun Yum  4 , Beom Hee Lee  5
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Case Reports

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

Hyunji Ahn et al. Brain Dev. 2020 May.

Abstract

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. Therefore, MLD should be ruled out in PMS patients with severe neurological phenotype.

Keywords: 22q13.3 deletion syndrome; Metachromatic leukodystrophy; Phelan-McDermid syndrome.

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Conflict of interest statement

Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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