A case of Donohue syndrome "Leprechaunism" with a novel mutation in the insulin receptor gene.

Donohue syndrome (Leprechaunism) is characterized by severe insulin resistance, hyperinsulinemia, postprandial hyperglycemia, preprandial hypoglycemia, intrauterine and postnatal growth retardation, dysmorphic findings, and clinical and laboratory findings of hyperandrogenemia due to homozygous or compound heterozygous inactivating mutations in the insulin receptor gene. A female newborn presented with lack of subcutaneous fat tissue, bilateral simian creases, hypertrichosis, especially on her face, gingival hypertrophy, cliteromegaly, and prominent nipples. Her laboratory tests revealed hyperandrogenism, postprandial hyperglycemia and preprandial hypoglycemia, and very high concurrent insulin levels. She was diagnosed as having Donohue syndrome. Metformin and continuous nasogastric feeding were administrated. During follow-up, relatively good glycemic control was obtained. However, severe hypertrophic obstructive cardiomyopathy and severe malnutrition developed. She died aged 75 days of severe heart failure and pneumonia. Her insulin receptors gene analysis revealed a compound heterozygous mutation. One of these mutations was a p.R813 (c.2437C>T) mutation, which was defined previously and shown also in her father, the other mutation was a novel p.777-790delVAAFPNTSSTSVPT mutation, also shown in her mother. The parents were heterozygous for these mutations.

Serum asymmetric dimethylarginine (ADMA), homocysteine, vitamin B(12), folate levels, and lipid profiles in epileptic children treated with valproic acid.

Recent reports have demonstrated elevated serum homocysteine (Hcy) levels in children receiving valproic acid (VPA) therapy. Elevated Hcy levels might play a potential role in the resistance to antiepileptic drugs, and might lead to an increased risk for a vascular disease. It has been reported that elevated total homocysteine (tHcy) levels are associated with elevated asymmetric dimethylarginine (ADMA) levels, which are factors that may be better indicators of endothelial dysfunction compared to serum homocysteine levels, because they are less sensitive to changes, such as fasting status, physical activity, and other factors. In this study, we aim to evaluate serum ADMA, Hcy, lipid, folate, and vitamin B12 levels in epileptic children, receiving VPA monotherapy. Forty-four epileptic children, receiving VPA monotherapy for at least 6 months and 28 healthy children aged between 4 and 16 years, were recruited. Serum lipids, lipoproteins, folate, vitamin B12, Hcy, and ADMA levels were analyzed in both study groups. Serum Hcy, ADMA, and vitamin B12 levels were higher in patients than in controls (p < 0.001 for tHcy and ADMA levels; p < 0.05 for vitamin B12 levels); however, serum lipid, lipoprotein, and folate levels were similar. According to the duration of epilepsy, serum tHcy, ADMA, and triglyceride (TG) levels were higher in patients with epilepsy for ≥ 2 years than in patients with epilepsy for < 2 years (p < 0.001 for serum ADMA levels, p < 0.01 for tHcy levels, and p < 0.05 for serum TG levels). Similarly, with respect to the duration of VPA therapy, serum tHcy, ADMA, and TG levels were higher in patients who had received VPA therapy for more than 2 years (p < 0.001 for serum ADMA levels, p < 0.05 for serum tHcy levels, p < 0.01 for TG levels). Serum ADMA levels were significantly higher in patients receiving VPA at the dose of 25-30 mg/kg/day than in those receiving 20 mg/kg/day (p < 0.01). In conclusion, our study found increased serum ADMA levels and increased tHcy levels in epileptic children receiving VPA monotherapy. Increased serum ADMA levels were demonstrated in epileptic children who have had a seizure history greater than 2 years, and have used VPA therapy for more than 2 years, and have received higher doses of VPA. Routine monitoring of serum ADMA and tHcy levels might have beneficial effects for patients receiving long-term VPA therapy, especially in children who have other potential risk factors for vascular diseases. Further studies are needed to investigate serum ADMA and Hcy levels, and the presence of vascular disease, as well as the potential interactions between serum ADMA levels and seizure control.

Diagnostic values of lipid and lipoprotein levels in late onset neonatal sepsis.

Serum lipids/lipoproteins were assayed to evaluate the diagnostic values of serum lipids/ lipoproteins in neonatal late onset sepsis (NLS) in 36 episodes of NLS (15 of the 36 in preterm newborns and 21 of the 36 in term newborns) while 36 healthy newborns were used as controls. On d 0, levels of total cholesterol (TC), triglyceride (TG), lipoprotein-a (Lp-a), high-density lipoprotein (HDL) and apolipoprotein-A (Apo-A) and B (Apo-B) were found to be significantly lower in the NLS group than in the control group (p=0.001). The sensitivity and specificity values were 61.5% and 69.4% for TC, 96.2% and 44.4% for HDL, 73% and 50% for Lp-a, 69.2% and 83.3% for triglyceride, 73% and 97.2% for Apo-A and 77% and 69.4% for Apo-B, respectively, at diagnosis. In conclusion, Apo-A appeared to be a useful marker for detection of NLS. Low TG levels may be due to impaired triglyceride-related neutralization of lipopolysaccharides in NLS.

Prevalence of cystinuria among elementary schoolchildren in Eskisehir, Turkey.

OBJECTIVE: Cystinuria is an inherited transport disorder due to defects in intestinal and renal transport of cystine and dibasic amino acids. Early diagnosis is required for some general and specific treatments because cystinuric patients have an increased risk of recurrent urinary stone formation. The prevalence of cystinuria varies widely in different countries. The aim of this study is to determine the prevalence of cystinuria among schoolchildren in Eskisehir, a central Anatolian city in Turkey. MATERIAL AND METHODS: The sodium cyanide-nitroprusside spot test was applied to the first morning urine samples from 8260 schoolchildren (4087 female, 4173 male, aged between 6 and 12 years). Urine and blood amino acids were determined with paper chromatography and special cystine-homocystine chromatography were performed if a child had a positive spot-test result. Urinary cystine levels of two children were measured quantitatively. RESULTS: Spot-test results were positive in four students. Increased levels of cystine and dibasic amino acids in the urine were determined with paper chromatography and cystine spots were also detected with special cystine-homocystine chromatography for these four students. Urinary cystine levels were elevated in two children whose urine could be studied. The prevalence of cystinuria in this study was 1:2065. There was no history or symptoms related to urolithiasis in these students. CONCLUSION: The prevalence of cystinuria in this study is higher than many other countries. Patients in Turkey with urinary stones or with symptoms related to urolithiasis must also be investigated for cystinuria.

Ceftriaxone-associated biliary sludge and pseudocholelithiasis during childhood: a prospective study.

BACKGROUND: Cholelithiasis is a rare condition seen during childhood. The aim of this study was to determine frequency of biliary sludge and cholelithiasis with ceftriaxone therapy. METHODS: Thirty-eight children aged between 1 month and 17 years were evaluated with ultrasonographic examination at the initiation of the ceftriaxone therapy and 10th day of therapy, consecutively. If biliary sludge or cholelithiasis were demonstrated, scans were repeated monthly until pathology disappeared. RESULTS: Abnormal gallbladder sonograms were demonstrated in 36.8% (n = 14) of patients at the 10th day of therapy. Cholelithiasis was detected in 28.9% (n = 11) of patients and biliary sludge was detected in 7.9% (n = 3). Two children still had cholelithiasis at the 30th day after therapy and one had cholelithiasis after the 60th day. The 9-year-old girl who still had cholelithiasis after 60 days of therapy also had nausea, vomiting and abdominal pain at 7 days after cessation of therapy. Her 90th day sonographic examination was normal. CONCLUSION: Reversible biliary sludge or pseudocholelithiasis due to ceftriaxone treatment is not a rare condition. Therefore it is benign, spontaneously resolved and clinical signs are usually absent.