[Hypertrophic cardiomyopathy caused by cytochrome-oxidase deficiency]. / Myocardiopathie hypertrophique par déficit en cytochrome C oxydase.

Mitochondrial cytopathies are due to genetic anomalies in the oxidative phosphorylation enzymes (excepting Krebs cycle, pyruvate and certain other mitochondrial enzymes). Recently discovered, these diseases have a characteristic heterogeneous clinical expression because of the ubiquitous nature of this intracellular organelle. We observed a case in a 16-year-old girl who had cytochrome C oxidase deficiency. The child was born to non-consanguinous parents and had a healthy brother. The first manifestation of the disease was a systolic murmur heard at the age of 4 years. Progressively, exertion dyspnoea, lipothymia with cyanose led to the first echocardiography at 8 years revealing non-obstructive cardiomyopathy. Functional inadaptation of cardiac performance worsened requiring various symptomatic treatments. At the age of 16, the symptomatology included lower limb fatigue and the diagnosis of a metabolic disease was entertained. Phosphorylase A and B activity and phosphokinase activity were normal. High lactic acid levels after exertion suggested a mitochondrial enzyme deficiency. The diagnosis of cytochrome C oxidase deficiency was confirmed by spectrophotometric and polarographic assay of mitochondria from a peripheral muscle biopsy. Treatment with riboflavin, ascorbic acid, factor P, menadione, carnitine and iron sulfate has currently provided some symptomatic improvement. In patients with unexplained cardiomyopathy, the diagnosis of mitochondrial cytopathy should be entertained if oxidoreduction potentials (lactate/pyruvate ratio) are perturbed. The diagnosis is confirmed by enzyme studies of fresh muscle mitochondria. Currently therapeutic prospects are at best very poor. Genetic counselling may be advisable.

[Stenosis of the pulmonary veins in total anomalous pulmonary venous drainage. Associated or iatrogenic abnormality?]. / Sténose des veines pulmonaires dans les retours veineux pulmonaires anormaux totaux. Anomalie associée ou iatrogène?

Obstruction of total anomalous pulmonary venous drainage (TAPVD) is sometimes observed in neonates, usually at the site where the collector drains into the caval system. Stenosis of the pulmonary veins themselves before joining the collector is less common. This was observed in 6 cases of intra- and supracardiac TAPVD; the prognosis is usually very bad due to postoperative pulmonary hypertension (PHT) which is difficult to treat. Three of our cases had TAPVD into the coronary sinus with obstruction presenting at birth. Conventional surgery did not reduce the PHT of the first 2 children because the congenital stenosis of the pulmonary veins was not corrected. In the first case, the pulmonary veins resembled fibrous cords and in the second case, the collector was stenosed at its junction with the coronary sinus. These two children died despite surgery. The third child, however, was cured because the obstruction was diagnosed preoperatively and successfully treated when the TAPVD was corrected. In the other three cases, TAPVD to the superior vena caval system was not obstructed but the pulmonary veins retracted progressively after surgery causing PHT and right ventricular failure. After unsuccessful percutaneous dilatation, reoperation revealed obstruction due to exuberant scar tissue with retraction at the site of anastomosis and (or) reconstruction of the pulmonary veins by incision or enlargement with a pericardial patch. One of these children survived after pneumonectomy of the obstructed lung which relieved reflex PHT of the contralateral lung.(ABSTRACT TRUNCATED AT 250 WORDS)

[Renal tubular acidosis and perception deafness. Apropos of a familial form]. / Acidose tubulaire rénale et surdité de perception. A propos d'une forme familiale.

We report a case of primary distal tubular acidosis with sensorineural deafness in two children from the same family. Failure to thrive at age one month was the first manifestation. Administration of bicarbonates allowed rapid resumption of normal growth. Inheritance is recessive and autosomal, contrary to isolated distal tubular acidosis. Early detection of deafness, a common feature that can easily be treated by hearing aids, should avoid delays in development of speech.

[Intermittent intracranial hypertension revealing a tumor of the cervical spine]. / Hypertension intracrânienne intermittente révélatrice d'une tumeur de la moelle cervicale.

A 6 year-old girl was admitted with symptoms of increased intracranial pressure. These manifestations spontaneously disappeared, then recurred a few days later, leading to the discovery of hydrocephalus with increased protein concentration in the cerebrospinal fluid. A cervical spine tumor was diagnosed by magnetic nuclear resonance examination. The patient was successfully operated on for a benign astrocytoma. In the absence of a cerebral tumor, cervical spinal tumors should be looked for when recurring symptoms of intracranial hypertension occur in a child.