Two novel mutations identified in familial cases with Donohue syndrome.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy.

PNPO deficiency: an under diagnosed inborn error of pyridoxine metabolism.

The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recently described cause of neonatal and infantile seizures. Clinical evaluation, and biochemical and genetic testing, were performed on a neonate with intractable seizures who did not respond to anticonvulsant drugs and pyridoxine. Sequencing of the PNPO gene revealed a novel homozygous c.

A cluster of early neonatal sepsis and pneumonia caused by nontypable Haemophilus influenzae.

Nine premature infants developed early onset sepsis and/or pneumonia with Haemophilus influenzae during a period of 53 months (January 2000 -May 2004). Their respiratory problems were pneumonia-like rather than classic respiratory distress syndrome. In 8 of the cases, the pathogen was a beta-lactamase-negative, nontypable H.