Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant.

Methylmalonic acidemia (MMA) is an inherited organic acidemia usually present with recurrent episodes of acute illness. A typical episode is ushered in with ketonuria and vomiting, followed by acidosis, dehydration, and lethargy, leading, in the absence of aggressive treatment, to coma and death. We report an infant with MMA presented with diabetes symptoms. A 13-month-old girl complained of polydipsia, diuresis, and loss of weight. She had clinical signs of diabetic ketoacidosis such as dehydration, deep sighing respiration, smell of ketones, lethargy, and vomiting. Laboratory analysis showed hyperglycemia with acidosis and ketonuria. She was treated with parenteral fluid, electrolyte, and insulin infusion. Two days after her discharge, after having a meal rich in protein, she was brought unconscious with hepatomegaly, severe acidosis, ketonuria, and mild hyperammonemia. The absence of hyperglycemia and the presence of neurologic findings suggested organic acidemia. MMA was diagnosed because of methylmalonic aciduria and elevated C3 carnitine esters. Cranial magnetic resonance imaging (MRI) showed increased uptake of radiocontrast material in the basal ganglia bilaterally. A homozygous mutation in exon 4 of the MMAA gene was found in mutation analysis and confirmed the diagnosis of cblA-deficient MMA. Neurologic regression was improved with treatment of low-protein diet, vitamin B12, and l-carnitine. In patients born to consanguineous parents who admit during infancy with severe acidosis refractory to treatment, organic acidemias should be kept in mind, even they have high blood glucose. The definitive diagnosis is important because it may allow a specific treatment and a favorable evolution to prevent the sequelae.

Mushroom poisoning.

OBJECTIVE: We aimed to review characteristics of mushrooms and mushroom poisoning and compare clinical picture, laboratory data, treatment modalities and prognostic factors in children with amanita intoxication and non-amanita mushroom poisoning. METHODS: We analyzed 39 pediatric patients through 1994-2004, retrospectively from the patient files and evaluated the patients in two groups as patients with amanita intoxication and patients with non-amanita mushroom poisoning. All of the cases were admitted to the hospital in autumn. Twenty three (59%) of the patients were female and 16 (41%) were male. Mean age of the patients was 8.05 +/- 2.10 years. RESULTS: Amanita phalloides toxin was detected in the serum in 8 patients. Eleven (28%) of the cases were strongly suggestive of amanita poisoning but alpha amanitin level could not be studied. The average time of appearance of symptoms after mushroom consumption, duration of symptoms, hospital stay, serum AST, ALT, PT and creatinine levels were significantly higher in patients with amanita poisoning (p<0.01). Conventional therapy, antidote therapy together with hemoperfusion were carried out in 16 (41%) of the patients. Four of the patients in whose blood amatoxin was detected (50%) and 3 of the patients highly suggestive of amanita poisoning (30%), totally 7 patients died of hepatic coma. The average time of admission to hospital, mean AST, ALT, creatinine and PT values at 3rd day were significantly higher in patients who died of hepatic coma. Prognosis was better in case of early admittance to hospital in patients with amanita poisoning. CONCLUSION: Early diagnosis and treatment in mushroom poisoning can be life saving. Public awareness is very important in prevention of intoxication as well as encouraging early admission to hospitals.