Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study

A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, wit...

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Bibliographic Details
Published in:Zhongguo dang dai er ke za zhi 2023-12, Vol.25 (12), p.1276-1281
Main Authors: Chen, Qiu-Rong, Zhang, Zhen-Jie, Lu, Yi-Xiu, Yuan, Sun-Bi-Xin, Li, Ji
Format: Article
Language:Chinese
Subjects:
Child
Fever
Glycosylphosphatidylinositols - genetics
Humans
Male
Membrane Glycoproteins - genetics
Mutation
Rare Diseases
Seizures
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Summary:A boy, aged 6 years, attended the hospital due to global developmental delay for 6 years and recurrent fever and convulsions for 5 years. The boy was found to have delayed mental and motor development at the age of 3 months and experienced recurrent fever and convulsions since the age of 1 year, with intermittent canker sores and purulent tonsillitis. During the fever period, blood tests showed elevated white blood cell count, C-reactive protein, and erythrocyte sedimentation rate, which returned to normal after the fever subsides. Electroencephalography showed epilepsy, and genetic testing showed compound heterozygous mutations in the gene. The boy was finally diagnosed with glycosylphosphatidylinositol biosynthesis deficiency 15 (GPIBD15) and periodic fever. The patient did not respond well to antiepileptic treatment, but showed successful fever control with glucocorticoid therapy. This article reports the first case of GPIBD15 caused by gene mutation in China and summarizes the genetic features, clinical f
ISSN:1008-8830
DOI:10.7499/j.issn.1008-8830.2307114