Hutchinson-Gilford Progeria syndrome: Report of the first Togolese case.

The aim of this article is to describe the first case of Hutchinson-Gilford Progeria Syndrome (HGPS) in Togo and review all Africans cases. Our patient was a 12.8-year-old Togolese boy followed in our unit till he was 15-year-old for HGPS.

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.

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.

[Apert's syndrome: a case report].

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.

[Post-hemolytic renal failure in children with glucose-6-phosphate dehydrogenase deficiency at the University Hospital Center in Lome].

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.

[Huntington disease in a large family in southern 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].

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.

[Infectious profile of the newborn in a pediatric unit in a regional hospital center in 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.

[Camptomelic dysplasia. Apropos of a case].

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)].

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.

[The fingerprint diagnosis of Poland's syndrome without syndactylia. A study of four cases].

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)].

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.