A case of Costello syndrome and glycogen storage disease type III
نویسندگان
چکیده
منابع مشابه
A case of Costello syndrome and glycogen storage disease type III.
CASE REPORT The male patient was born to a non-consanguineous Japanese couple. The mother was 28 and the father was 29 years old at the time of his birth. The mother had a healthy boy from a previous pregnancy. A review of the family history was unremarkable. The pregnancy was uneventful, except for the presence of polyhydramnios from 27 weeks of gestation. The patient was born by spontaneous v...
متن کاملGlycogen storage disease (type-III).
Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...
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INTRODUCTION Reports of secondary diabetes in glycogen storage disease type III have been very limited, where the pathogenesis and management have not been clear. Here we report on a rare case of secondary diabetes in glycogen storage disease type III that has been successfully managed with insulin. CASE PRESENTATION This is a 19-year-old female of Egyptian ethnicity, born of a consanguineous...
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We report a case of an 18-month-old girl with glycogen storage disease type Ib (GSD Ib). Her neutrophil counts had gradually decreased to less than 500/μL by the age of 3 years. However, there were no recurrent bacterial infections. Mutation analysis of the glucose-6-phosphate translocase (G6PT) gene revealed a compound heterozygous missense mutation (Ala148Val/Gly273Asp). (Korean J Pediatr 200...
متن کاملGlycogen storage disease type III in Inuit children.
Glycogen storage disease type III (GSD III) was diagnosed in 4 Inuit children (3 confirmed, 1 suspected case) at our institution over the last decade. This rare autosomal recessive disease, which results from a deficiency of the debranching enzyme required for complete degradation of the glycogen molecule, has not been previously described in this population. The possible clinical presentations...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2002
ISSN: 1468-6244
DOI: 10.1136/jmg.39.2.e8