Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome) form B is a rare disease occurring in siblings. It may present with radiological features like Perthes' disease or hypothyroidism. We report two such cases, and discuss the differential diagnosis of the spondylo-epiphyseal dysplasias. We stress the importance of final diagnosis by identifying a particular glycosaminoglycan excess in the urine and an enzyme deficiency in the fibroblasts aryl sulphatase B and N-acetylgalactosamine-4-sulphatase.
A FULL account of the various types of dumb-bell tumours is given in the paper by Eden in this JOURNAL (p. 549). The ganglioneuromata are rare, and not all of them are of the dumb-bell type. Their pathology has been discussed by Eden. A case somewhat similar to ours, in a child of 7&, but without the dumb-bell feature, has been described by Sophian,' and a case of combined cervical and thoracic tumour with tracheal obstruction by Riggs and Good.z
CASE REPORTHISTORY.--P. G., a boy, aged 4, was admitted to Great Ormond Street Hospital on August 2, 1940, with a history of asthma since he was a year old. He had had whoopingcough at 5 months and measles at I year.On admission he was breathing stertorously and examination of the chest showed an area of dullness with absent breath-sounds over the upper half of the right side behind, while in front the right apex was resonant and the breath-sounds were but little diminished. X-ray examination of the chest showed a rounded opacity in the upper part of the chest on the right side, apparently arising from the posterior mediastinum (Figs. 417, 418). The tumour was aspirated from behind and fluid resembling pure blood was withdrawn on three occasions.The child was transferred to Leavesden Emergency Hospital on August 23, 1940, where further radiographs were taken for evidence of skeletal changes. It was thought that the tumour might be of the dumb-bell variety, and pictures were taken to show the ribs and intervertebral foramina. There was widening of the posterior end of the fourth space, with
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.