ABSTRACT
We report on a 12 year old mentally retarded boy who presented at birth with bilateral knee dislocations, dislocation of the right hip, and general joint laxity. Cytogenetic studies showed a 49,XXXXY karyotype. Hyperlaxity of joints is known to occur in 49,XXXXY patients, but congenital knee dislocation has not been reported. Rarely in 49,XXXXY and 49,XXXXX syndromes Larsen-like features may be seen. Patients with congenital joint dislocation or laxity, combined with other malformations, especially if psychomotor development is delayed, should be karyotyped to exclude chromosomal abnormalities.
Subject(s)
Chromosome Aberrations/genetics , Joint Dislocations/congenital , Joint Dislocations/genetics , Karyotyping , Knee Joint , Abnormalities, Multiple/genetics , Adult , Cells, Cultured , Child , Child, Preschool , Chromosome Banding , Chromosome Disorders , Elbow Joint/abnormalities , Female , Hip Dislocation, Congenital/genetics , Humans , Infant , Infant, Newborn , Knee Joint/abnormalities , Lymphocytes/cytology , Lymphocytes/physiology , Male , Pregnancy , Shoulder Joint/abnormalities , Thumb/abnormalitiesABSTRACT
A mild variant of Zellweger (cerebro-hepato-renal) syndrome was diagnosed in male and female siblings aged 7 and 2 years. They had mild facial dysmorphia, moderate psychomotor retardation, tapetoretinal degeneration, sensorineural deafness and hepatomegaly. Ultrastructural examination of a liver biopsy in the younger patient revealed the absence of recognizable peroxisomes. In both patients plasma levels of pipecolic acid, phytanic acid, trihydroxycoprostanoic acid and dihydroxycoprostanoic acid were elevated. The very long chain fatty acid C26:0 and the C26:0/C22:0 fatty acid ratio were elevated in plasma, but less than in classical Zellweger syndrome. In cultured fibroblasts, deficient acyl-CoA:dihydroxyacetone phosphate acyltransferase and increased concentrations of C26:0 as well as C26:1 very long chain fatty acids were found within the ranges previously established for patients with classical Zellweger syndrome. Particle-bound catalase was absent in fibroblasts. Despite the relatively mild clinical expression the biochemical abnormalities found in these patients are the result of a general peroxisomal dysfunction similar to the changes in classical Zellweger syndrome.
Subject(s)
Brain Diseases/genetics , Kidney Diseases/genetics , Liver Diseases/genetics , Metabolism, Inborn Errors/genetics , Acyltransferases/deficiency , Bile Acids and Salts/blood , Brain Diseases/metabolism , Brain Diseases/pathology , Child , Child, Preschool , Fatty Acids/blood , Female , Fibroblasts/enzymology , Humans , Kidney Diseases/metabolism , Kidney Diseases/pathology , Liver/pathology , Liver Diseases/metabolism , Liver Diseases/pathology , Male , Metabolism, Inborn Errors/metabolism , Metabolism, Inborn Errors/pathology , Microbodies/pathology , Phytanic Acid/blood , Pipecolic Acids/blood , SyndromeABSTRACT
A 9 weeks old boy with infantile globoid cell leukodystrophy is presented. Clinical features consisted of insufficient weight gain, hypertonic musculature, irritability, loss of previously attained skills, loss of visual function, elevation of the cerebrospinal fluid (CSF) protein. He died at the age of 11 months. First-trimester diagnosis was performed in two consecutive pregnancies by means of analysis of chorionic villi in the 9th week.
