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

Christine Le1,2, Asuri N Prasad1,3,4,2, C Anthony Rupar3,4,2

  • 1Department of Clinical Neurological Sciences, London, Ontario, Canada.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques
|May 7, 2019
PubMed

Insights

A novel PTRH2 gene mutation causes infantile-onset multisystem disease affecting neurologic, endocrine, and pancreatic functions. This genetic discovery offers insights into rare pediatric disorders.

Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD) is a rare genetic disorder.
  • Understanding the genetic basis of IMNEPD is crucial for diagnosis and potential therapeutic strategies.

Observation:

  • Three brothers from a consanguineous Syrian family presented with a novel homozygous nonsense mutation (c.324G>A, p.W108*) in the PTRH2 gene.
  • Clinical manifestations included postnatal microcephaly, motor and language delay with regression, ataxia, hearing loss, epileptic seizures, pancreatic insufficiency, and peripheral neuropathy.

Findings:

  • The identified homozygous mutation in PTRH2, encoding peptidyl-tRNA hydrolase 2, is directly linked to the observed IMNEPD phenotype.
  • Detailed clinical phenotyping facilitated the precise genetic investigation and identification of this novel mutation.

Implications:

  • This study expands the known genetic causes of IMNEPD and highlights the role of PTRH2.
  • The findings contribute to the understanding of multisystemic genetic disorders and may inform future research on IMNEPD and related conditions.

Keywords:
AtaxiaDevelopmental delayHearing loss and peripheral neuropathyNeuroendocrinopathyPostnatal microcephaly

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