Chromosomal analysis in a child with ambiguous sex showed mosaicism of at least two cell lines with one or more marker chromosomes or none at all. They were shown to be derived from the Y chromosome by fluorescent in situ hybridisation (FISH) using different DNA probes that cover parts of the long and the short arm.

DNA Probes↗

PubMedDate not supplied

[3-hydroxy-3-methylglutaraciduria (case report of a female Turkish sisters with 3-hydroxy-3- methylglutaryl-Coenzyme A lyase deficiency].

3-Hydroxy-3-methylglutaric aciduria is a rare inborn error of metabolism, caused by reduced enzyme activity of the intramitochondrial 3-hydroxy-3-methylglutaryl-CoA lyase. We describe two turkish sisters with this disease. In the older sister clinical symptoms with lethargy, convulsions, metabolic acidosis, hypoglycemia and hyperammonemia lead to the diagnosis. The younger sister was diagnosed prenatally. The clinical course of our patients is compared with those reported in the literature with respect to clinical symptoms, differential diagnosis and therapeutic regimens.

Acidosis↗

PubMedDate not supplied

[Trisomy of the short arm of chromosome 10p; description of a female patient with de novo duplication 10p11.2-15].

Trisomy 10p is a rare chromosomal syndrome, characterized by craniofacial abnormalities, malformations of organs and skeleton, and impaired psychomotor development. In most of the cases partial trisomy 10p results of a balanced translocation or inversion, the mother being carrier of the structural abnormality. Only eight of 63 patients with trisomy 10p found in a literature survey present a de novo trisomy. 17 cases show a pure trisomy 10p without an associated deficiency of any other chromosome segment. We report a female patient with an interchromosomal de novo duplication 10p11.2-->15, demonstrating typical clinical signs like craniofacial abnormalities, oral cleft, club foot, seizures, and a severe delay of psychomotor development.

Abnormalities, Multiple↗

PubMedDate not supplied

[van Bogaert-Bertrand spongy cerebral dystrophy].

We report on a male infant with spongy degeneration of the central nervous system (van Bogaert and Bertrand type), who died at the age of 7 months. The clinic as well as the diagnostic procedure are described, especially the importance of cranial computerized tomography for the diagnosis.

Brain↗

PubMedDate not supplied

[Kidney transplantation in childhood].

40 renal transplantations on children up to 15 years of age have been performed in our hospital in the years 1976 to June 1982 with one exception in 1972. We did verify the findings of previous authors that renal transplantation in children has produced good results so far (1, 5, 6). Dialysis treatment in children often evokes extreme problems for the patients, parents, and medical team. Considering this dialysis is seen as only a provisional measure, transplantation however as the final aim in the therapeutic concept of children with terminal renal insufficiency (1). Furthermore dialysis treatment for infants is justified in our opinion only if a renal transplantation ca be realized.

Adolescent↗

PubMedDate not supplied

[Polysaccharide specific humoral immunodeficiency in ectodermal dysplasia. Case report of a boy with two affected brothers].

We report a now three year old male patient with ectodermal dysplasia and a polysaccharide specific humoral immunodeficiency. Immunological investigations showed compromised production of IgA, IgM, and IgG2. Isohaemagglutinins still were not detectable at the age of three years. Repeated vaccination with polyvalent pneumococcal polysaccharide vaccine did not result in production of specific antibodies. Two brothers showed clinical signs of ectodermal dysplasia. The elder brother died from pneumococcal sepsis at the age of 3 years. The younger brother suffers from chronic inflammatory gastrointestinal disease with ulcerations in all parts of the gastrointestinal system. Thus, a possible association between polysaccharide specific humoral immunodeficiency and ectodermal dysplasia may be considered.

Anti-Bacterial Agents↗