Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly.

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly.

Vitamin A deficiency and nocturnal vision in teenagers with cystic fibrosis.

UNLABELLED: The aim of this study was to document plasma retinol status and nocturnal vision in ten eutrophic adolescents with cystic fibrosis (CF) receiving daily retinol supplementation. Plasma retinol, alpha and beta carotenes and retinol binding protein were measured in ten clinically stable CF patients (mean age: 14.3 years; Shwachman score: 80-100). Nocturnal vision evaluation was performed with a Beyne optometer. Plasma retinol (mean 0.42 +/- 0.16 mg/l), alpha carotene and beta carotene levels were below the lower limit of normal in all but one patient. Five out of ten patients with normal standard opthalmological examination presented a poor (n = 3 patients) or a pathological (n = 2) dark adaptation test. These two patients showed a dramatic increase in nocturnal vision after 1 year of adapted retinol supplementation. CONCLUSION: Low vitamin A levels occur frequently in clinically stable, eutrophic and retinol supplemented CF adolescents. Since vitamin A deficiency is associated with poor nocturnal vision and since this pattern can be reversed by adapted retinol supplementation, we recommend monitoring plasma vitamin A levels in CF patients and evaluation of dark adaptation in retinol deficient patients.

[Congenital tracheal agenesis. Apropos of 2 cases]. / Agénésie trachéale congénitale. A propos de deux cas.

BACKGROUND: Tracheal agenesis is an uncommon, and lethal malformation. It can combine with other malformations. CASE REPORT: Two cases of congenital tracheal agenesis were seen in preterm infants (GA: 36 and 34 weeks, respectively). Diagnosis was suggested at birth when tracheal intubation failed in those asphyxic patients. One infant presented with the Vacter association; karyotype was normal in both cases. CONCLUSION: Antenatal diagnosis of tracheal agenesis is difficult but is desirable to favor a well-adapted management of the newborn at birth and give valuable information to parents.

Response to dobutamine and dopamine in the hypotensive very preterm infant.

A randomised double blind study was designed to evaluate haemodynamic response to dobutamine and dopamine in 20 hypotensive preterm infants of less than 32 weeks' gestation. Neonates initially received dopamine or dobutamine 5 micrograms/kg/min. If mean arterial pressure (MAP) remained below 31 mm Hg, the infusion rate was increased in increments of 5 micrograms/kg/min. If 20 micrograms/kg/min of the initial drug failed to achieve a MAP above 30 mm Hg, it was discontinued and the other drug was administered at the same infusion rate. Left ventricular output (LVO) was measured by pulsed Doppler echocardiography. Mean (SE) MAP increased significantly from 24.4 (1.0) to 32.0 (1.4) mm Hg at a median dobutamine dosage of 20 micrograms/kg/min and from 25.6 (1.2) to 37.7 (1.5) mm Hg at a median dopamine dosage of 12.5 micrograms/kg/min. The percentage LVO increase was +21 (7)% with dobutamine compared with -14 (8)% with dopamine. Dobutamine failed to increase MAP above 30 mm Hg in six infants out of 10, whereas dopamine succeeded in all 10 infants. Six switches from dobutamine to dopamine were thus performed, providing a rise in MAP (29.2 (0.5) to 41.2 (2.0) mm Hg) and drop in LVO (356 (40) to 263 (36) ml/kg/min). These data indicate that dopamine is more effective than dobutamine in raising and maintaining MAP above 30 mm Hg; however dopamine does not increase LVO.

[Hemorrhagic shock with encephalopathy syndrome or major hyperthermia syndrome?]. / Syndrome de choc hémorragique avec encéphalopathie ou syndrome d'hyperthermie majeure?

A five month-old infant presented with gastro-intestinal symptoms followed by a multiple organ failure with: shock, status epilepticus, disseminated intravascular coagulation, hepatic and renal failure. The infant survived with major neurological sequelae. The diagnosis and the actuality of the so-called "hemorrhagic shock and encephalopathy syndrome" are discussed.

[Isolated hemangioma of the left ventricle. Value of coronaroangiography for the etiological diagnosis]. / Hémangiome isolé du ventricule gauche. Intérêt de la coronarographie dans le diagnostic étiologique.

A four year old child was admitted for investigation of a cardiac murmur and cardiomegaly. Echocardiography showed a large left ventricular tumour, the extension of which was accurately defined by nuclear magnetic resonance imaging and the etiology confirmed by coronary angiography. Holter recordings showed salvoes of ventricular tachycardia. This is an interesting case because, despite echocardiography and nuclear magnetic resonance imaging, the precise nature of the tumour was revealed only by coronary angiography. This investigation also showed a significant decrease of the left ventricular ejection fraction. It is the only described haemangioma complicated by this type of ventricular hyperexcitability. Therefore, coronary angiography would seem to be necessary in the investigation of isolated myocardial masses which remain unidentified by non-invasive methods.

[Paraganglioma of the carotid body. Apropos of a case in a 14-year-old child]. / Paragangliome du corpuscule carotidien. A propos d'un cas chez un enfant de 14 ans.

Carotid body tumors are encountered infrequently. We report a case of a fourteen year old boy presenting an inflammatory biologic syndrome with a right neck mass. The diagnosis was first an Hodgkin disease but the surgical approach and histological examination of the neck mass conclude to a benign carotid body tumor. A subadventitial excision allowed a complete recovery with one year follow up. The diagnosis of these tumors is essentially made by arteriography. They are benign in most of the cases but sometimes need for a vascular reconstructive surgery in very extended forms.