Archives francaises de pediatrie最新文献

Background: Transient cortical blindness is a rare complication of mild head trauma in children. This spectacular manifestation always has a benign outcome.

Case report: A five-year-old girl was admitted for bilateral blindness immediately following a fall with frontal head injury. Neurological examinations and ophthalmological investigations showed no abnormalities. The electroencephalogram showed slow waves in the left occipital area. The blindness resolved completely within 3 hours.

Conclusion: This bilateral blindness was similar to that of the 40 cases reported since 1964, including a rapid and benign outcome. Its mechanism is not clear, although some suggest a cerebral vasospasm. Our patient's mother has a history of migraine.

Background: The features of Laurence-Moon syndrome vary widely from mental retardation, hypogenitalism to retinopathy; the dominant one is progressive neurological involvement, ataxia and spastic paraplegia. Like Bardet-Biedl syndrome, its inheritance is autosomal recessive. This paper describes the endocrine investigation of a new family of Laurence-Moon syndrome subjects.

Case report: The 5 patients (3 girls, 2 boys) in this family of 12 sibs, all suffered from retinopathy, mental retardation and first metacarpal hypoplasia with proximal placement of thumb. All five had had spastic paraplegia since the age of 5-6 years, growth retardation and hypogonadism. Two had had seizures; only one was obese.

Results: Four patients (2 girls, 2 boys, aged 19, 15, 18 and 19 years) had low basal plasma FSH and LH levels. They had no FSH-LH response to gonadotropin-releasing hormone; their plasma testosterone and oestradiol concentrations were very low. The growth hormone peak in response to arginine-insulin were low in these 4 patients (1.5 ng/ml; 3.8 ng/ml; 5 ng/ml; 4.8 ng/ml). One boy and one girl were given sex steroids for a few months, with good effect on their sexual characters. Their growth hormone levels remained low (2.9 ng/ml, 6.5 ng/ml). One boy was given FSH and LH analogues with good effects on sexual characters and testicle growth. He was also given growth hormone, and had a growth spurt of 5.5 cm after 9 months treatment.

Conclusion: The hypogonadism of Laurence-Moon patients seems to be of central origin. It is associated with growth hormone deficiency.

Background: Clear cell sarcoma of tendons and aponeuroses is a rare mesenchymal tumor in childhood. It is difficult to treat and its prognosis is bad.

Case report: A 9 year-old girl was admitted because of persistent pain in the left lower part of her thorax. Clinical examination showed a mass, 4 cm in diameter, embedded in the thoracic wall. Ultrasonography and CT-scan showed that this mass extended between the last ribs to the pleural cul-de-sac. There was no adenopathy and myelogram was normal. Biopsy of the mass showed features of clear cell sarcoma of tendons and aponeuroses. Cytogenetic studies showed translocation t(12;22) (q13-14;q12) in tumor cells. The patient was given chemotherapy followed by complete resection, but the tumor recurred locally 3 months later and the patient died, despite chemotherapy plus radiotherapy, 23 months after the apparent onset of disease.

Conclusion: Treatment of this type of tumor remains difficult. The existence of a break point on 22q12, as in Ewing sarcoma, suggests that this tumor in of neural crest cell origin.