ABSTRACT
We report on a 16-month-old girl with multiple swellings on her skull due to massive osteolysis, growth retardation, facial anomalies, and wrinkly skin with mosaic hypopigmentation. She also had severe hypercalcemia, which gradually returned to normal levels. The condition likely represents Gorham syndrome with systemic manifestations.
Subject(s)
Abnormalities, Multiple/genetics , Developmental Disabilities/genetics , Growth Disorders/genetics , Osteolysis, Essential/genetics , Osteolysis, Essential/pathology , Skull/pathology , Female , Humans , Hypopigmentation/genetics , Infant , Skin Abnormalities/genetics , Skin Abnormalities/pathology , SyndromeABSTRACT
OBJECTIVES: Nonalcoholic fatty liver disease (NAFLD) is commonly associated with type 2 diabetes mellitus (DM) though its prevalence is not well studied. We conducted a prospective study of prevalence and risk factors of NAFLD in patients with type 2 diabetes. RESEARCH DESIGN AND METHODS: 204 type 2 DM patients attending an out-patient diabetic clinic underwent abdominal sonography. Ninty of 127 patients with fatty infiltration on ultrasound consented for liver biopsy, clinical and biochemical workup. RESULTS: Eighty seven percent had NAFLD on histology with 62.6% steatohepatitis and 37.3% fibrosis. Age, duration of diabetes mellitus, degree of glycemic control, body mass index, waist circumference, family history of diabetes mellitus, did not predict the presence or severity of NAFLD or fibrosis. Serum alanine aminostranferase (ALT) and alkaline phosphatase levels, though within normal limits, were significantly higher in patients with steatohepatitis. Prevalence of NASH increased with increase in the components of the metabolic syndrome. Serum AST/ALT ratio were also significantly higher (p-0.049) in patients with severe fibrosis. All patients with severe fibrosis had metabolic syndrome. CONCLUSIONS: Prevalence of NAFLD and NASH in our cohort of type 2 DM patients is high and increases with multiple components of metabolic syndrome. NASH and advanced fibrosis can occur in diabetic patients without any symptoms, signs or routine laboratory test abnormalities.
Subject(s)
Diabetes Mellitus, Type 2/complications , Fatty Liver/epidemiology , Hepatitis/epidemiology , Adult , Aged , Cohort Studies , Fatty Liver/diagnosis , Female , Hepatitis/diagnosis , Humans , Male , Middle Aged , Prevalence , Risk Factors , Young AdultABSTRACT
Eleven subjects aged <20 yr with histologically proven pheochromocytoma between 1987 and 2006 were analyzed. Family history was present in 18%. In 2 patients, pheochromocytoma was part of VHL and in one it was associated with MEN 2. Twenty four hour urine VMA level was elevated in 100% and metanephrine level in 73%. CT/ MRI were showing the tumor in all. Prazosin extended release tablets (maximum 30 mg/day) were used in 73% and doxazosin (maximum 12 mg/ day) in 27%. Intraoperative BP fluctuations were seen in 27%. All were biochemically cured after surgery. Preoperative á blockade with extended release prazosin and doxazosin were effective in controlling perioperative BP fluctuations. Hence these drugs can be used in children and adolescents without fear of postoperative hypotension.
