Affiliation:
1. Department of Pediatrics Kumamoto University Hospital Kumamoto Japan
2. Department of Pediatrics Graduate School of Medical Sciences Kumamoto University Kumamoto Japan
3. Department of Neurology Kumamoto University Hospital Kumamoto Japan
4. Department of Human Genetics Yokohama City University Graduate School of Medicine Yokohama Japan
Abstract
Key Clinical MessageThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*). The clinical symptoms included microcephaly, brachygnathia, central and peripheral hypotonia, and developmental delay (non‐verbal), among others. On comparison with published literature, even patients with the same mutation present different clinical symptoms.AbstractThis case report presents a child with PURA‐related neurodevelopmental disorder, caused by the heterozygous pathogenic variant c.175C>T (p.Gln59*), whose symptoms included microcephaly, brachygnathia, the development of a high anterior hairline, hip dysplasia, strabismus, severe hypotonia, developmental delay (non‐meaningful verbal), feeding difficulties, and respiratory difficulties. His development ceased with age, such that his development at 10 years corresponded to an infant of 6 months. Moreover, even patients with the same variant can have different clinical symptoms, such as the presence or absence of epilepsy or congenital malformations. Therefore, we should follow his long‐term clinical course and provide medical support as necessary.
Funder
Japan Agency for Medical Research and Development
Japan Society for the Promotion of Science
Takeda Science Foundation