[Late onset 3-HMG-CoA lyase deficiency: a rare but treatable disorder].

3-Hydroxy-3-methylglutaric aciduria is a rare autosomal recessive genetic disorder due to a deficiency of the 3-hydroxy-3-methylglutarylCoA lyase (HMG-CoA lyase), a mitochondrial enzyme involved in ketogenesis and in the final step of l-leucine catabolism. HMG-CoA lyase deficiency can lead, in particular circumstances, such as fever, prolonged fasting or digestive disorders, to brutal and severe hypoglycemia with metabolic acidosis and sometimes fatal coma. We report on a new case of 3-hydroxy-3-methylglutaric aciduria particular by its late onset in a 3-year-old patient.

[A cause of intracerebral calcifications that should be known: pseudohypoparathyroidism Ib].

In children, pseudohypoparathyroidism (PHP) is a rare but classical cause of basal ganglia calcifications. It is caused by resistance to parathormone (PTH). Hypocalcemia, which may be symptomatic, is its main feature.

HCV/HIV co-infection, HCV viral load and mode of delivery: risk factors for mother-to-child transmission of hepatitis C virus?

Background: Hepatitis C virus (HCV) infection in children is mainly acquired via maternal transmission. Our aim was to identify mother-to-child-transmission (MTC) risk factors, namely those associated with maternal virological characteristics and mode of delivery.

Methods: Women were included between October 1998 and September 2002 in six hospitals in Southern France on the basis of positive HCV serological status.

Duplication of the leg--renal agenesis: congenital malformation syndrome.

A case is given of a male born with a duplication of the left leg and ipsilateral kidney agenesis. Although the etiology is unknown, we believe this association represents a congenital malformation syndrome. It is a polytopic developmental field defect.