Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature.

We present a boy with blepharophimosis, ptosis, epicanthus inversus, microcephaly, mild mental retardation, and growth delay. Chromosomal analysis revealed a male karyotype with an interstitial deletion in the long arm of chromosome 3. DNA-analysis showed that the deletion is of maternal origin and encompasses the region between markers D3S1535 and D3S1593.

Hospital admissions for rotavirus infection in the Netherlands.

The development of a vaccine against rotavirus (RV) infection has necessitated the estimation of the number of hospitalizations for RV infection in the Netherlands. During 1998, pediatricians have reported all hospitalizations with RV infection and supplied information on the duration of admission, clinical picture, indication for admission, and treatment. Also, data from the National Disease Registry on hospitalizations for gastroenteritis (International Classification of Disease codes 006.

[An infant with a fatal cerebral hemorrhage due to vitamin K deficiency].

A 7-week old, male infant died from an intracerebral haemorrhage due to vitamin K deficiency. He had been exclusively breast-fed. Directly after birth no vitamin K was administered.

Leigh syndrome associated with a deficiency of the pyruvate dehydrogenase complex: results of treatment with a ketogenic diet.

A one-year-old boy suffering from intermittent lactic acidosis, muscular hypotonia, horizontal gaze paralysis and spasticity in both legs had low activity of the pyruvate dehydrogenase complex associated with low amounts of immunoreactive E 1 alpha and E 1 beta. Leigh syndrome was diagnosed on the basis of the clinical and biochemical abnormalities and the typical lesions observed on MRI of the brain. Treatment with a ketogenic diet was associated with clinical and biochemical amelioration.