Paediatrics Publications

Title

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review

Document Type

Article

Publication Date

7-1-2019

Journal

Canadian Journal of Neurological Sciences

Volume

46

Issue

4

First Page

459

Last Page

463

URL with Digital Object Identifier

10.1017/cjn.2019.35

Abstract

We report three brothers born to consanguineous parents of Syrian descent, with a homozygous novel c.324G>A (p.W108) mutation in PTRH2 that encodes peptidyl-tRNA hydrolase 2, causing infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD). We describe the core clinical features of postnatal microcephaly, motor and language delay with regression, ataxia, and hearing loss. Additional features include epileptic seizures, pancreatic insufficiency, and peripheral neuropathy. Clinical phenotyping enabled a targeted approach to the investigation and identification of a novel homozygous nonsense mutation in PTRH2, c.324G>A (p.W108). We compare our patients with those recently described and review the current literature for IMNEPD.

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