ABSTRACT
Spondyloenchondromatosis (SEM) is a rare skeletal dysplasia which presents with multiple enchondromata in the metaphyses of the long bones associated with dysplastic vertebral bodies. It is probably heterogeneous. We have investigated and documented a male infant in South Africa with spondyloenchondromatosis and persistent D-2-hydroxyglutaric aciduria (D2HA). D2HA is a neurometabolic disorder whose enzymatic basis is still undefined. A girl in England with a similar clinical, radiological and biochemical phenotype has previously been reported by Talkhani et al. [(2000). Skel Radiol 7:215-2921]. There is at present a lack of a plausible pathogenetic relationship between the two components of the disorder but a contiguous gene syndrome or a pleiotropic gene could be considered. Whatever the underlying mechanism this case report confirms its nosological entity.
Subject(s)
Arm/abnormalities , Enchondromatosis/physiopathology , Glutarates/metabolism , Leg/abnormalities , Arm/diagnostic imaging , Brain/abnormalities , Brain/diagnostic imaging , Glutarates/urine , Humans , Infant , Leg/diagnostic imaging , Lumbar Vertebrae/abnormalities , Lumbar Vertebrae/diagnostic imaging , Magnetic Resonance Imaging , Male , Radiography , Scapula/abnormalities , Scapula/diagnostic imagingSubject(s)
Congenital Disorders of Glycosylation/blood , Congenital Disorders of Glycosylation/diagnosis , Blindness/etiology , Congenital Disorders of Glycosylation/classification , Congenital Disorders of Glycosylation/complications , Female , Humans , Infant , Intellectual Disability/etiology , Isoelectric Focusing , Seizures/etiology , South Africa , Transferrin/metabolismABSTRACT
Nine areas of the brain from a case of adrenoleukodystrophy were examined histopathologically and by gas chromatography for fatty acid content. The main findings were: (1) the degree of demyelination was related to the pentacosanoic and hexacosanoic to docosanoic acid ratios (C25:0/C22:0 and C26:0/C22:0); gliosis was related to the ratios of several fatty acids to docosanoic acid; (2) there was a shift towards smaller components (C22:0, C23:0, C24:0) of the saturated fatty acid series in the less affected areas, to larger components and various minor components in regions of active demyelination; (3) mainly saturated fatty acids of the middle class components (C24:0, C25:0 and C26:0) were found in severely affected areas where the active process is complete. Because a region of high long chain fatty acid content, lacking histopathological change, was detected, the hypothesis is presented that the primary event in childhood ALD is related to defective lipid metabolism and that this preceeds demyelination.
