title: Rhizomelic chondrodysplasia punctata: 16-year follow-up of a child from birth.
abstract: A boy with rhizomelic chondrodysplasia punctata, diagnosed on the laboratory evidence of a high plasma concentration of phytanic acid and a low erythrocyte concentration of plasmalogens, has been followed from birth to the age of 16 years. The clinical pattern (somatic, skeletal and neurological) tallies with published findings in this disease. Unusual findings are the associated epilepsy, confirmed by EEG, and the long survival. CT brain scan and MRI showed cortical and subcortical atrophy but not gyral abnormalities or demyelination.
authors.affiliation: Istituto di Neuropsichiatria Infantile, Università degli Studi di Milano.
authors.forename: C
authors.initials: C
authors.lastname: Lenti
authors.forename: P
authors.initials: P
authors.lastname: Paganoni
authors.forename: R
authors.initials: R
authors.lastname: Sangermani
mesh_terms: D001921:Brain / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000097:blood / Q000473:pathology*; D004569:Electroencephalography; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010831:Phytanic Acid / Q000097:blood; D010955:Plasmalogens / Q000097:blood; D014057:Tomography, X-Ray Computed
chemical_list: D005227:Fatty Acids; D010955:Plasmalogens; D010831:Phytanic Acid