Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0028754 (obesity)
 124,988 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report an infant with severe hypotonia, feeding problems and failure to thrive in the neonatal period, followed by developmental delay. In addition, pale skin, eyelid and pedal edema, cryptorchidism and micrognathia were present. The tentative diagnosis of Prader-Labhart-Willi syndrome was made and confirmed by specific molecular testing at the age of 5 months. The Prader-Labhart-Willi syndrome is usually diagnosed in older infants when the main clinical features such as obesity, short stature, hypogonadism and developmental delay become obvious, in most of the patients typical clinical features are present already in the neonatal period. In conclusion, in neonates and young infants presenting with hypotonia and feeding problems, the Prader-Labhart-Willi syndrome should be considered.
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PMID:[Prader-Labhart-Willi syndrome in infants]. 1197 9

Bariatric surgery is well established in reducing weight and improving the obesity-associated morbidity and mortality. Hyperammonemic encephalopathy following bariatric surgery is rare but highly fatal if not diagnosed in time and managed aggressively. Both macro- and micronutrients deficiencies play a role. A 42-year-old Hispanic female with a history of Roux-en-Y Gastric Bypass Procedure was brought to ED for progressive altered mental status. Physical exam was remarkable for drowsiness with Glasgow Coma Scale 11, ascites, and bilateral pedal edema. Labs showed elevated ammonia, low hemoglobin, low serum prealbumin, albumin, HDL, and positive toxicology. She remained obtunded despite the treatment with Narcan and flumazenil and the serum ammonia level fluctuated despite standard treatment with lactulose and rifaximin. Laboratory investigations helped to elucidate the etiology of the hyperammonemia most likely secondary to unmasking the functional deficiency of the urea cycle enzymes. Hyperammonemia in the context of normal liver function tests becomes diagnostically challenging for physicians. Severe hyperammonemia is highly fatal. Early diagnosis and aggressive treatment can alter the prognosis favorably.
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PMID:Fatal Nonhepatic Hyperammonemia in ICU Setting: A Rare but Serious Complication following Bariatric Surgery. 2714 37