Persistent coagulopathy during Escherichia coli sepsis in a previously healthy infant revealed undiagnosed tyrosinaemia type 1.

Hereditary tyrosinaemia type 1 (HT1) is caused by an enzymatic defect in tyrosine metabolism. It is an autosomal recessive disorder and affects both sexes equally. In young infants HT1 can present as severe liver involvement and in older infants as liver failure and renal tubular dysfunction together with growth failure and rickets. The authors report the case of a 5-month-old, previously healthy, male infant who presented with Escherichia coli sepsis and severe coagulopathy due to liver dysfunction. Despite the early diagnosis of HT1 and treatment with 2-(2-nitro-4-trifluoromethylbenzoyl)-1, 3-cyclohexanedione (NTBC), the patient died from severe coagulopathy and multi-organ failure.

Seizures as a presenting feature of late onset metachromatic leukodystrophy.

OBJECTIVES: We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD). METHODS AND RESULTS: The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD. CONCLUSION: Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.

Nutritional status and growth in children less than 12 kg treated with continuous ambulatory peritoneal dialysis.

Various parameters of nutritional status and growth in 13 children with weight less than 12 kg were estimated at the start of continuous ambulatory peritoneal dialysis (CAPD) and 1 year later. A significant improvement in weight, triceps skinfold, and serum albumin was noticed. Height and midarm muscle circumference did not change significantly. However, a significant improvement in height occurred in patients with initial abnormal height (<--2 SDS). There was no significant change in protein intake and urea nitrogen appearance (UNA) during the study period. A significant correlation between protein intake and UNA was noticed. All patients had normal serum insulinlike growth factor. In conclusion, there was no significant change in either height velocity or muscle mass despite the improvement in many nutritional parameters.