Aplasia cutis congenita associated with Goltz syndrome in a male neonate.

Here we report the association of giant aplasia cutis congenita in a newborn black male with Goltz syndrome. The cutis aplasia defect is extensive and circonscript at the vertex. The cerebral structures are visible through the lesions. In addition, the patient has a low birth weight, syndactyly, adactyly, cutaneous atrophy, and areas of hyperpigmentation on the legs and hypoplastic maxillary. We think that these signs are probably due to mosaic mutations in PORCN. We reviewed 18 cases of Goltz syndrome in 18 male neonates but none has aplasia cutis congenita. Such a combination of severe aplasia cutis congenita was not reported previously in Goltz syndrome.

Wolf Hirshhorn syndrome in a case of ring chromosome 4: phenotype and molecular cytogenetic findings.

Ring chromosome 4 associates concomitant loss of the telomeric 4p and 4q regions and leads to variable clinical manifestations depending on the size of the deleted chromosomal material. We report on a patient with ring chromosome 4, showing the Wolf-Hirshhorn Syndrome (WHS) phenotype and minor symptoms of distal 4q deletion syndrome; the severity of the signs of WHS masks the symptomatology of the 4q deletion syndrome. The absence of seizures despite the absence of the specific 4p16.3 region with haploinsufficiency of the LETM1 gene is striking. The double telomeric deletion due to the ring chromosome formation confirmed by FISH has been rarely described in WHS.

[Apert's syndrome: a case report]. / Le syndrome d'Apert: à propos d'une observation.

Apert's syndrome is a type of acrocephalosyndactylia that is from part of the great group of craniofacial synostoses. It is characterized by craniofacial dysmorphia and syndactylia on hands and feet, which differentiates it from Crouzon's disease. It is a rare affection that is often transmitted through an autosome dominant mode, but sporadic cases exist. We report the case of a 15-year-old girl who presented characteristic clinical signs of Apert's syndrome with normal karyotype without parental consanguinity. The Ser 252 Trp mutation of the FGFR2 gene was found, confirming the molecular diagnosis. This study illustrates the severity of ocular and neurological problems of untreated Apert's syndrome. The presence of hemoglobinopathy (Hb AS) is also a mark of its originality.

[Post-hemolytic renal failure in children with glucose-6-phosphate dehydrogenase deficiency at the University Hospital Center in Lome]. / Insuffisance rénale post-hémolytique chez l'enfant déficient en glucose-6-phosphate déshydrogénase au Centre Hospitalier Universitaire de Lomé.

The purpose of the study was to identify predisposing factors for acute hemolysis and post-hemolytic renal failure in children with glucose-6-phosphate dehydrogenase deficiency (G6PD). Any child presenting hemoglobinuria during the study period was prospectively evaluated. Evaluation included detection of the presence of hemolytic agents, laboratory tests to measure hemolysis, G6PD activity, infection and renal failure, and assessment of outcome and management of hemolysis and renal failure. G6PD deficiency was documented in 32.1% of the 230 children admitted with hemoglobinuria. Anuric renal failure occurred during the hemolysis episode in 35.1% of patients with G6PD deficiency (21 boys and 5 girls between 30 months to 13 years old). Acute hemolysis associated with infection occurred before any treatment in 53.8% of cases and after beginning treatment in 46.1%. In 84.6% of cases, occurrence of acute hemolysis involved association of drugs considered as nonhemolytic either with themselves or with other drugs. Anuric renal failure occurred after beginning treatment in all cases and was most severe in patients with of multiple-germ infection (30.7%) and drug association (84.6%). Renal failure was reversible in 80.7% and fatal in 19.2%. Multiple-germ infection and drug association appeared as the main predisposing factors for post hemolytic anuric renal failure in patients with G6PD deficiency. The high frequency of these factors in tropical areas suggests implication of local endemic infections.

[Huntington disease in a large family in southern Togo]. / La maladie de Huntington dans une vaste famille au sud du Togo.

We report the clinical manifestations and the family in a large family in Southern Togo in which Huntington's disease is known to exist for the past 6 generations. At present there are 8 patients in this family, 67 members descending from patients. This family study adds further information to our knowledge of Huntington's disease among black Africans.

[Gastrointestinal and urinary parasitic infection in children at a regional hospital center in Togo: some epidemiological aspects]. / Parasitisme digestif et urinaire chez l'enfant dans un Centre Hospitalier Régional du Togo: quelques aspects épidemiologiques.

To determine the impact of parasitic infection of the digestive and urinary tract in children living in a rural area of Togo, a retrospective study was conducted in a Pediatric Department of Kara, Togo. Results revealed that 35% of the 1610 children between the ages of 0 and 16 years had positive tests for parasites in stools or urine and that 117 had more than one parasite. Trichomonas intestinalis, Entamoeba histolytica, Schistosoma mansoni and Necator americanus accounted for 86.5% of the parasitic infections observed. Parasitic infection was observed during the neonatal period and its incidence increased in males up to the age of 12 years and during the rainy months of the year. Study of associated diseases indicated that 56% of children with parasites also had malaria and that 47% were anemic. Parasitic infection of the digestive and/or urinary tract was noted in 31.8% of children under the age of 5 years with malnutrition.

[Infectious profile of the newborn in a pediatric unit in a regional hospital center in Togo]. / Profil infectieux du nouveau-né dans un service de pédiatrie d'un chr au Togo.

In one year 106 suspect cases of neo-natal infection were admitted to the pediatric ward of CHR in Kara. The principal elements of diagnosis (slow labor, premature membrane rupture, troubled or fetid amniotic fluid, other obstetrical maneuvers or neo-natal reanimation) were related to insufficient follow-up during pregnancy. Given the lack of means for microbiologic investigation we were unable to identify any etiologic agent apart for Plasmodium. However, therapeutic response indicated infections of bacterial origin. The high rates of infectious morbidity (87%) and lethality (36%) could be reduced by the continued training of traditional birth attendants and the application of a maternal child health policy as part of an integrated primary health care program.

[Camptomelic dysplasia. Apropos of a case]. / La dysplasie camptomélique. A propos d'une observation.

A new case of campomelic dysplasia is reported, probably the first in Africa, with several remarkable points which might suggest an hypothetic embryopathy.

[Study of fingerprints in 12 cases of hereditary brachydactyly type C and E (author's transl)]. / Etude des dermatoglyphes dans 12 cas de brachydactylie héréditaire de type C et E.

The authors studied 7 patients with type C brachydactyly and 5 patients with type E brachydactyly. 1. In the C type cases the findings were as follows: a) frequency of anomalies of the digital folds (a fold of the digital flexion); b) frequency of single transverse palmar fold; c) the almost persistent presence of axial t triradius in the intermediate or distal position. 2. In the type E cases there was a predominance, at the digital pulp level, of cubital loops and whorls.

[The fingerprint diagnosis of Poland's syndrome without syndactylia. A study of four cases]. / Le diagnostic dermatoglyphique du syndrome de Poland sans syndactylie (a propos de 4 observations)

The author studied the fingerprints of four children (three girls and one boy) aged from five months to eleven years who were suffering from Poland's syndrome without syndactylia. He recorded the following peculiarities: a distal triradius in t" (in one case out of four), a frequency of loops in the hypothenar eminence, a raised digital count, an increase in the number of whorls on the fourth finger.

[Kniest's disease, (a familial case)]. / La maladie de Kniest. Une observation familiale

Kniest's disease (spondylo-epiphyseal dysplasia) was recently described by Maroteaux and Spranger. A second familial case is studied. Transmission of the disease occurred as a dominant trait.