[Chondrodysplasia punctata. Report of four cases in two sibships]. / La chondrodysplasie ponctuée. A propos de quatre observations en deux fratries.

Chondrodysplasia punctata has very diverse clinical and radiological features. Its diagnosis may be suggested as early as in the neonatal period in front of an abnormal facial appearance, sometimes associated with bone and vertebrae defects. Radiological exams will assert it. Its subsequent course depends on the accompanying visceral abnormalities. Genetics advice is closely related to these. Ultrasonography is the only actual possibility of prenatal diagnosis. However our attitude must be guided by the clinical course (of the disease) of the initial case in the sibship.

[Triosephosphate isomerase deficiency. Familial survey and prenatal detection]. / Le déficit en triose phosphate isomérase. Enquête familiale et dépistage anténatal.

Triose phosphate isomerase catalyses dihydroxyacetone phosphate to glyceraldehyde 3 phosphate isomerism. Its deficiency associates hemolytic anemia, neurologic abnormalities, relapsing infections and results in encephalopathy or early death. On the occasion of 2 new cases, we report one of the most important familial surveys as 93 subjects were studied, confirming the autosomal recessive transmission of the deficiency and the first results of antenatal diagnosis which could be performed in one of the families.

[Apropos of a familial case of adrenoleukodystrophy related to X chromosome diagnosed prenatally]. / A propos d'une observation familiale d'adrénoleucodystrophie liée à l'X avec réalisation d'un diagnostic anténatal.

The juvenile type of adrenoleukodystrophy is a X linked genetic disorder involving the central nervous system and the adrenal cortex. It is associated with an abnormal metabolism of saturated very long chain fatty acids. The basic defect remains unknown and there is presently no effective treatment. The authors report a familial observation which illustrates the efficacy of the techniques of identification of heterozygote females carriers and of prenatal diagnosis from trophoblast biopsy.

[A case of congenital non-spherocytic hemolytic anemia caused by enzyme deficiency in pyruvate kinase]. / A propos d'un cas d'anémie hémolytique congénitale non sphérocytaire par déficit enzymatique en pyruvate-kinase.

About a familial observation of PK deficiency, the authors emphasize the important clinical and biochemical heterogeneity. Interest of isotopic explorations in the therapeutic decision of splenectomy.

[A case of congenital non-spherocytic hemolytic anemia caused by triose phosphate isomerase deficiency. Prenatal diagnosis]. / Un cas d'anémie hémolytique congénitale non sphérocytaire, par déficit en triose phosphate isomérase. Diagnostic prénatal.

Prenatal diagnosis: The authors present a personal case of triose-phosphate-isomerase deficiency. Clinically the deficiency associates a constitutional non spherocytic anemia, paroxystic and precocius, and neuromuscular symptoms (axial hypotonia and limb palsies). A diaphragmatic paralysis may complicate the syndrome. Infections are frequent. Survival rarely goes beyond 5 years of age. Biochemical exams show the ubiquity of the deficiency. The physiopathology remains obscure. The TPI deficiency is heritable (autosomal recessive transmission). The gene has been mapped on the short arm of the chromosome 12. Prenatal diagnosis is possible.

Congenital muscular dystrophy and cerebral CT scan anomalies. Results of a collaborative study of the Société de Neurologie Infantile.

We present the results of a collaborative study on the association of congenital muscular dystrophy with central nervous system anomalies revealed by CT scan investigation of 10 patients. In seven children, an abnormal hypodensity of the cerebral white matter is found; in four of these patients, this radiological anomaly is either isolated, or associated with a moderate intellectual impairment; in one case, severe mental retardation and ocular changes had occurred; in the other two cases, the muscular disease was progressing slowly, in association with microcephaly, epilepsy, and moderate mental retardation. Three children were afflicted with a severe early encephalopathy and congenital muscular dystrophy, and presented signs of cortical and subcortical atrophy on CT scan. Two of these patients corresponded to different types of cerebro-ocular dysplasia-muscular dystrophy syndromes, and the third patient of Fukuyama's congenital muscular dystrophy. These observations are discussed and compared with those reported in the literature. The authors emphasize the need to investigate possible cerebral CT scan anomalies in congenital muscular dystrophies, and to look for muscular changes in some prenatal encephalopathies.

[Familial adrenoleukodystrophy]. / A propos d'une observation familiale d'adrenoleucodystrophie.

Adrenoleucodystrophy (ALD) is an X-linked hereditary disease concerning very long chain fatty acid (VLCFA) metabolism. It affects cerebral white matter and adrenal cortex. In the adult form, (adrenomyeloneuropathy) we also find hypogonadism. The enzymatic anomaly, yet unknown, takes place in the peroxisome. The illness is diagnosed by plasma VLCFA amount determination. We actually have no efficient treatment. Prenatal diagnosis is possible, using both biochemical assays and linkage analysis to a DNA probe.

[A new case of partial monosomy of chromosome 12,del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B]. / Etude d'un nouveau cas de monosomie partielle du chromosome 12,del(12)(p11.01----p12.109) confirmant la localisation du gène de la lactico-déshydrogénase B.

A new case of partial monosomy of the short arm of chromosome 12 is described in a 17-year-old girl and compared with other observations reported in the literature. The breakpoints were localized to region 12p11----12p.12.1. Qualitative and quantitative activity of LDHB allowed a precise assignment of the structural gene to sub-band 12p12.2.

[Plasma concentrations of phenobarbital and dosage according to age]. / Concentrations plasmatiques de phénobarbital et posologie en fonction de l'âge.

Phenobarbital was used as first treatment in 198 subjects with different loading doses adjusted according to age, followed by a daily maintenance dose of 5 mg/kg. A loading dose was given per os to 136 infants in four groups and intravenously to 62 subjects in five groups (including 30 adults). We found that the intravenous route must be used for the rapid production of therapeutic plasma concentrations and accordingly we recommend it in intensive care. Posology of 20 mg/kg i.v. appears to be adequate in children up to 15 years old while a posology of 15 mg/kg seems to be too high in adults. The maximum probability of efficiency is delayed up to 12 h when phenobarbital is given per os. Various posologies were found to be adequate in infants except for premature newborns.

[Clinical evolution and cytogenetic study of two acute lymphoblastic leukemia (type L2) in the child: prognostic value of the karyotype]. / Evolution clinique et étude cytogénétique de deux leucémies aiguës lymphoblastiques (LAL de type L2) chez l'enfant: intéret pronostique du caryotype.

Cases of two newborns with acute lymphoblastic leukemia (ALL) L2 type, are reported. In each case, some chromosomal abnormalities can be found. In the first case, a translocation t (4;11) is noticed. It has to be compared with already published patients' cases and so the non randomly occuring character of those alterations in ALL and poor pronostic factor can be confirmed. In the second observation, a complex translocation t (5;6;X) never described before in literature, was observed. Chromosomal findings in ALL are not only a help to diagnosis but, by cytogenetic data, are also a help to accurate prognosis and adequate treatment.

[Association of trisomy 21 and gonosomal trisomy. Apropos of 2 cases]. / Association de trisomie 21 et de trisomie gonosomique. A propos de deux observations.

The existence of double autosomal trisomy is exceptional in a newborn child: --Down syndrome and trisomy 18. --Down syndrome and trisomy 13. On the other hand, the association of an autosomal trisomy, generally Down syndrome with gonosomal trisomy, is less rare with an extra X (triplo X, Klinefelter) or an extra Y. The association of Down syndrome with Turner XO syndrome (autosomal gonosomal association) doesn't insert in the subject, and has been described only once in the literature.

[Postaxial polydactyly in a female neonate associated with hydrocolpos due to vaginal atresia and with a congenital cardiopathy: the McKusick-Kaufman syndrome]. / Polydactylie post-axiale chez un nouveau-né de sexe féminin, associée à un hydrocolpos par atrésie vaginale et à une cardiopathie congenitale: syndrome de McKusick-Kaufman.

The existence in a new-born child of post-axial polydactyly, associated with an abdominal tumor due to hydrocolpos, because of a low vaginal atresia, and with congenital heart-disease, recalls the diagnosis of the McKusick-Kaufman syndrome. This syndrome must be differentiated from the Ellis-Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with a "chondrodysplasis" and an "ectodermodysplasia".