期刊
METABOLIC BRAIN DISEASE
卷 37, 期 4, 页码 1283-1287出版社
SPRINGER/PLENUM PUBLISHERS
DOI: 10.1007/s11011-022-00942-5
关键词
Gaucher disease; GBA; hydrops fetalis; Ichthyosis
Gaucher disease type 2 is a rare and rapidly progressive form of the disease, characterized by acute neurological involvement. Early diagnosis and genetic counseling are crucial for prevention and management of the disease.
Gaucher disease type 2 is the most progressive and the rarest form of Gaucher disease, defined as the acute neuronopathic type. We presented two GD2 patients who died before three months of age due to severe septicemia, respiratory and liver failure. One was homozygous for a novel GBA variant c.590 T > A (p.197 K), and the second homozygous for the known GBA mutation c.1505G > A (p.R502H). Ichthyosis, hydrops fetalis, apnea, myoclonic seizures, and hepatosplenomegaly occurred in both patients, but hypertrophic cardiomyopathy was observed only in the second and unilateral cataract in the first patient. Due to the disease's early and rapid neurological progression, we did not administer ERT to our patients. It is strongly believed that early diagnosis is essential, and prenatal diagnosis makes genetic counselling possible for future pregnancies.
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