[Smith-Lemli-Opitz syndrome]. / Le syndrome de Smith-Lemli-Opitz.

BACKGROUND: Smith-Lemli-Opitz syndrome (SLOS) is an autosomic recessive metabolic affection. Children affected by SLOS exhibit a defect in cholesterol biosynthesis associated with a high concentration of cholesterol precursor 7 dehydrocholesterol (7 DHC) and its isomers, which is due to an enzymatic block at the level of delta-7-DHC reductase. SLOS has been subdivided into two types on the basis of clinical severity: type I is the classic and type II is the severe one. CASE REPORT: A full term female was born from a pregnancy complicated by oligoamniosis and intra-uterine growth retardation. The neurologic status was immediately impaired with severe hypotonia, absence of reflexes, and abnormal crying. She exhibited multiple congenital anomalies with a facial dysmorphia, anomalies of members, unicornus uterus and a pyloric stenosis. Plasmatic concentration exhibited a normal cholesterolemia contrasting with an elevated level of 7 and 8 DHC. Major alimentary tract defect led to enteral and parenteral nutrition. The severe neurological defect led to death on the 16th day of life. CONCLUSION: Despite normal blood cholesterol levels that can be attributed to enteral and parenteral nutrition, the severity of clinical findings and the lethal course permit to classify this case as type II.

[Bilateral galactocele in an infant]. / Galactocèle bilatérale chez un nourrisson.

The authors report a case of a 2 month-old male baby with bilateral mammary gland swelling diagnosed as galactocele that resolved after simple puncture. Galactocele, or milk filled mammary gland cyst, is a possible complication of the neonatal genital crisis, but may also appear after the first months of life. This condition has been described only in males and was rarely noted in the literature. It should be considered as one of the possible causes of infantile gynecomastia.

Anterior spinal artery syndrome mimicking infantile spinal muscular atrophy.

A baby with acute fetal distress and severe heart malformation presented with persisting hypotonia and muscle weakness. Clinical, electromyography, and muscle biopsy findings were compatible with anterior horn cell disease. Postmortem study showed widespread ischemic necrosis in the anterior gray matter of the spinal cord. This is the first report of anterior spinal artery syndrome in a neonate.

[Congenital virilizing adrenal hyperplasia due to 11 beta-hydroxylase deficiency. Study of eleven cases (author's transl)]. / L'hyperplasie congénitale virilisante des surrénales par déficit en 11 bêta-hydroxylase.

Eleven cases of congenital virilizing adrenal hyperplasia are studied. This study leads to point out some peculiar characteristics: virilization of external genitalia in girls is most usually important; arterial hypertension is delayed, usually after some years; plasma androgens and desoxycortisol are highly elevated; plasma 17-hydroxyprogesterone is slightly elevated and this may be misleading; good results of treatment which must preferably use hydrocortisone since plasma cortisol is sometimes low; long-term risks in treated children include chronic hypertension in both sexes, advanced puberty in girls and pubertal gynecomastia in boys.

Hepatic and splenic involvement in cat-scratch disease: imaging features.

Hepatosplenic involvement in cat-scratch disease, probably underdiagnosed, is characterized by multinodular lesions throughout the liver and spleen. Radiologic features of ultrasound, computed tomography, and magnetic resonance imaging are not specific. The key of the diagnosis relies on a history of cat or kitten contact. A specific serological test can confirm the diagnosis without invasive procedures such as biopsy.

[Papillary solid tumor of the pancreas in a child: a case report]. / Tumeur papillaire solide du pancréas chez un enfant.

We present a case of a papillary solid neoplasm of the head of the pancreas incidentally diagnosed after an abdominal trauma in a thirteen year old boy. Imaging features (US, CT) of the lesion were not specific enough to permit a precise diagnosis with certainty. Preoperative percutaneous needle biopsy can give presumptive evidence which may guide the treatment. Prognosis is fairly better than other pancreatic neoplasms in children (particularly pancreatoblastoma). Treatment relies only on surgery.