ESPE2022 Poster Category 2 Growth and Syndromes (44 abstracts)
First Korean case of a novel ZC4H2 mutation in Wieacker-Wolff syndrome with recurrent hypoglycemia
Gahyun Lee 1 , Heung Kim 2 , So Yun Park 3 , Donghyun Lee 3 & Seokjin Kang 3
1Suseong Children's Hospital, Daegu, Republic of South Korea; 2Keimyung University Daegu Dongsan Hospital, Daegu, Republic of South Korea; 3Keimyung University Dongsan Hospital, Daegu, Republic of South Korea
Wieacker-Wolff syndrome, first described in 1985, is a rare congenital syndrome caused by ZC4H2 mutation reported in 9 family and 6 sporadic cases to date. It is an X-linked recessive disorder characterized by congenital joint contractures, mental retardation, progressive neurologic muscular atrophy, scoliosis, and hypoglycemia. A nine-year-old boy with brain atrophy, mental retardation, scoliosis, developmental dysplasia of the hip, convulsions, and exotropia presented to our institution with recurrent hypoglycemia since infancy. A physical examination showed facial dysmorphism and no hepatomegaly. Hyperinsulinism, growth hormone deficiency, cortisol deficiency, and fatty acid oxidation defects were ruled out based on the results of the appropriate tests. In the “critical sample,” his hypoglycemia was consistent with ketotic hypoglycemia. Whole exome sequencing and Sanger sequencing revealed a hemizygous mutation on ZC4H2 in the patient and his mother, who has mild mental retardation and exotropia, but not in his father and brother. Here, we report the first Korean case of a boy with multiple anomalies and recurrent hypoglycemia with a novel ZC4H2 mutation.
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