Daniel Soyeur

Cutaneous presentation of the cardio-facio-cutaneous syndrome

We present the clinical and histologic features of the cutaneous lesions in a girl with cardio-facio-cutaneous syndrome. Marked tortuosity with hyperkeratosis of the sweat ducts and dystrophy of the hair shafts appear to be the cutaneous hallmarks of this syndrome.

Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form

We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra- and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and over 3-fold the normal in the heart. In this organ, over 50% of the intracellular space was occupied by glycogen and possibly oligosaccharides, as demonstrated by the quantitative morphometric analysis of electron micrographs. The activity of acid alpha-glucosidase was increased in the heart, skeletal muscles, and liver, but was normal in leukocytes. A review of the 11 previously published pedigrees of lysosomal glycogen storage disease with normal in vitro alpha-glucosidase activity allows the delineation of three clinical entities: juvenile and neonatal pseudo-Pompe diseases and partial Pompe disease. Partial Pompe disease, due to the tissue-specific absence of acid alpha-glucosidase, was observed in a single patient. The most common form is the late-onset pseudo-Pompe disease, which is characterized by severe cardiomyopathy and mild myopathy appearing in the second or third decade, prominent arrhythmia with Wolf-Parkinson-White syndrome, and sometimes mental retardation. Patients reported as suffering from Antopol disease probably belong to this group. Dominant inheritance (autosomal or X linked) is likely in most families. The present report appears to be the first one to describe a rapidly fatal neonatal form of lysosomal glycogenosis without acid maltase deficiency. The mode of inheritance of this form is not known. Differential diagosis includes Pompe disease (similar histology) and cardiac phosphorylase b kinase deficiency (similar clinical course). The delineation of neonatal pseudo-Pompe disease makes enzymatic confirmation mandatory in each case suspected of Pompe disease.

Atrial flutter in the human fetus: diagnosis, hemodynamic consequences, and therapy.

Fetal Atrial Flutter. In the context of a large program of prenatal echocardiographic detection of fetal heart disease, special attention was paid to the in utero detection and identification of fetal heart rate disorders. This article focuses on 18 cases of tachycardiac fetuses. It provides information on how to identify the nature of the detected tachycardia, the hemodynamic consequences of tachycardia, the particular characteristics of fetal atrial flutter. and the efficacy of the transmaternal treatment of fetal tachycardia. U also describes an original way to grade and score the degree of fetal heart failure that proved useful for the assessment and monitoring of in utero therapeutic procedures. The results presented stress the efficacy of digoxin for fetal atrial flutter as well as the usefulness of prenatal echocardiography in the assessment of anatomical, functional, and rhythmic conditions of the fetal heart.

Two-Dimensional Echographic Localization of Intracardiac Cerebrospinal Fluid Shunt Catheters

This study evaluated the ability of two-dimensional echocardiography (2D echo) to detect and localize the distal end of ventriculoatrial shunt catheters in the cardiac chambers of hydrocephalic patients. Twenty-eight patients were studied, and the performances of 2D echo and standard chest x-ray filming were compared. Although standard chest x-ray filming allowed accurate determination of the catheter position in only half of the patients, 2D echo afforded clear visualization and accurate localization of the catheter in all instances. By its precise definition of intracardiac anatomical landmarks and its excellent time determination, 2D echo can provide valuable information on the movements of the catheters distal end during the cardiac cycle, during head flexion or rotation, and during deep breathing movements. Some interesting observations were made with 2D echo. A to-and-fro motion of the catheter tip through the tricuspid orifice during the cardiac cycle was visualized in two instances. The combination of head movements and deep respiratory movements induced a variation in the position of the catheter tip. The magnitude of this displacement was 6 cm at the most. Two patients underwent reoperation for lengthening or shortening of the catheter. The operative findings confirmed the ultrasonic localization in both cases where the chest x-ray film had failed to identify or adequately locate the catheter tip. It is concluded that 2D echo is a safe, innocuous, and accurate method with which to locate the distal end of a ventriculoatrial shunt. It is the only available technique that provides visualization of intracardiac structures and cardiac cycle reference.(ABSTRACT TRUNCATED AT 250 WORDS)