1231 Hypersomnia in a patient with a glycogen storage disease
نویسندگان
چکیده
منابع مشابه
Diabetes mellitus in a patient with glycogen storage disease type Ia: a case report
BACKGROUND Glycogen storage disease type Ia is a genetic disorder that is associated with persistent fasting hypoglycemia and the inability to produce endogenous glucose. The development of diabetes with glycogen storage disease is exceedingly rare. The underlying pathogenesis for developing diabetes in these patients is unclear, and there are no guidelines for treatment. CASE PRESENTATION We...
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Results A 7 year-old girl was admitted to out patient clinic with a swollen and painful toe associated with lethargy and poor appetite; there was no rash, serositis, or eye inflammation, no muscle pain or weakness. Her history revealed that she had been followed up with a diagnosis of glycogen storage disease type 1 and neutropenia since she was 1 year-old. She had recurrent attacks of pain and...
متن کاملLiver Transplantation in a Myopathic Patient with Glycogen Storage Disease Type IIIa and Decompensated Cirrhosis
Glycogen storage disease (GSD) type IIIa (Forbes-Cori disease) can be associated with severe liver disease. A patient with GSD type IIIa may therefore be a potential candidate for liver transplantation. Progressive myopathy makes uncertain the outcome of the patient and the transplant. Herein, we report on the good results of liver transplantation up to 28 months after the transplantation in a ...
متن کاملRecurrent Episodes of Rhabdomyolysis after Seizures in a Patient with Glycogen Storage Disease Type V
Dear Editor, Glycogen storage disease type V (GSD-V) is the most common disorder of muscle glycogenosis and is caused by alterations in the PYGM gene.1 Patients with GSD-V typically present with exercise intolerance, episodic rhabdomyolysis, and the second-wind phenomenon. Seizure has been well described as a provocative event for rhabdomyolysis, but it is not classical feature of GSD-V. Here w...
متن کاملAA Amyloidosis in a patient with glycogen storage disorder and progressive chronic kidney disease
Type 1 glycogen storage diseases (GSD) are inherited metabolic diseases caused by defects in the activity of the glucose-6-phosphate transporter. We present the case of a 40-year-old male with glycogen storage disease type 1b (GSD1b) who was referred to our nephrology service for evaluation of his chronic kidney disease and found to have AA amyloid deposition on renal biopsy. Amyloid is a descr...
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ژورنال
عنوان ژورنال: Sleep
سال: 2017
ISSN: 0161-8105,1550-9109
DOI: 10.1093/sleepj/zsx052.022