Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4 year old girl with psychosocial dwarfism showed hepatomegaly, abdominal distension and behavioral disturbances. Laboratory tests revealed a reversible elevation of serum liver enzymes and a reversible partial growth hormone deficiency. The child's family was characterised by severe social problems and all signs of a depriving and child abusing environment. All pathologic findings were reversed by removing the child from her depriving family background. This case demonstrates that psychosocial dwarfism represents an aspect of child abuse (battered child syndrome).
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PMID:[Psychosocial dwarfism]. 406 18

Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to defective transport of glucose-6-phosphate. The clinical presentation of GSD1b is characterized by hepatomegaly, failure to thrive, fasting hypoglycemia, and dyslipidemia. Patients affected by GSD1b also show neutropenia and/or neutrophil dysfunction that cause increased susceptibility to recurrent bacterial infections. GSD1b patients are also at risk for inflammatory bowel disease. Occasional reports suggesting an increased risk of autoimmune disorders in GSD1b patients, have been published. These complications affect the clinical outcome of the patients. Here we describe the occurrence of autoimmune endocrine disorders including thyroiditis and growth hormone deficiency, in a patient affected by GSD1b. This case further supports the association between GSD1b and autoimmune diseases.
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PMID:Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity. 2464 11