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.
Neurofibromatosis (or von Recklinghausen disease) is a hereditary condition due to mesodermal and neuroectodermal dysplasia, eponymously named after the researcher who reported it in 1882. The disorder is transmitted as an autosomal dominant condition, but 50% of cases arise as spontaneous mutations. The incidence falls within the range 1:2 000 - 1:4 000, and has no gender bias. We present a series of images produced by different modalities that show lesions and pathologies that are characteristic of the disease.
The thymus is a lymphatic organ that was often thought of as an organ of mystery by the ancientGreeks. A soft, pliable lymphatic organ positioned in the anterior superior mediastinum, itdoes not compress or displace the adjacent structures. It is disproportionately larger in thepaediatric population and then gradually regresses to ‘hide’ in the mediastinum as the childadvances into puberty. It regresses in size under conditions of stress and may be absent invarious congenital abnormalities such as DiGeorge syndrome and conditions of stress. Thethymus appears in a variety of shapes and sizes on a paediatric chest radiograph and at timesmay be misinterpreted as pathology. This article describes the normal thymus as it appears onpaediatric radiography, and addresses mimickers.
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