Precocious Puberty in Two Girls With PEHO Syndrome: A Clinical Feature Not Previously Described

Author:

Alfadhel Majid1,Yong Siu Li2,Lillquist Yolanda1,Langlois Sylvie3

Affiliation:

1. Department of Biochemical Diseases, BC Children's and Women's Hospital, Vancouver, BC, Canada

2. Department of Medical Genetics, BC Children's and Women's Hospital, Vancouver, BC, Canada

3. Department of Medical Genetics, BC Children's and Women's Hospital, Vancouver, BC, Canada,

Abstract

The authors present 2 girls with progressive encephalopathy, hypsarrhythmia, and optic atrophy syndrome. They describe a novel finding, precocious puberty, a feature not previously reported in this syndrome. The authors also present their clinical features and the results of investigations, including radiological findings, and compare the patients of this report to previously reported cases.

Publisher

SAGE Publications

Subject

Neurology (clinical),Pediatrics, Perinatology and Child Health

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