http://hdl.handle.net/10147/128154 Wed, 19 Jun 2013 05:49:09 GMT 2013-06-19T05:49:09Z http://www.lenus.ie:80/hse/retrieve/386683/templestreet.jpg http://hdl.handle.net/10147/128154 http://hdl.handle.net/10147/292338 Title: Fabry’s disease in a female, still an under-recognised disease Abstract: A nine-year-old girl presented with an asymptomatic eruption on her right leg which had been present for 2 years. She complained of severe acral pain and paraesthesiae for several years, despite treatment with numerous analgaesics, amitriptyline, gabapentin and carbamazepine. On occasion she had been confined to a wheelchair and required home schooling. On examination she had a unilateral eruption affecting her right thigh and lower leg (Figure 1). On closer view, there were erythematous, hyperkeratotic and haemorrhagic papules. Histopathological examination of a skin biopsy showed hyperkeratosis and dilated blood vessels in the dermis consistent with . Electron microscopy demonstrated intralysosomal glycolipid deposits, arranged in a lamellar fashion, within the endothelial cells lining dermal blood vessels (Figure 2) Wed, 01 May 2013 00:00:00 GMT http://hdl.handle.net/10147/292338 2013-05-01T00:00:00Z http://hdl.handle.net/10147/292315 Title: Parental experience of enzyme replacement therapy for Hunter Syndrome Authors: Buraczewska, M; O’Leary, D; Walsh, O; Monavari, A; Crushell, E Mon, 01 Apr 2013 00:00:00 GMT http://hdl.handle.net/10147/292315 2013-04-01T00:00:00Z http://hdl.handle.net/10147/275691 Title: Spinal level of myelomeningocele lesion as a contributing factor in posterior fossa volume, intracranial cerebellar volume, and cerebellar ectopia. Authors: Sweeney, Kieron J; Caird, John; Sattar, Muhammad Taufiq; Allcutt, David; Crimmins, Darach Abstract: McLone and Knepper's unified theory of Chiari malformation Type II (CM-II) describes how the loss of CSF via the open posterior neuropore fails to create adequate distending pressure for the developing rhomboencephalic vesicle. The authors of the present article describe the relationship between the posterior fossa volume and intracranial cerebellar volume as being related to the distance from the obex of the fourth ventricle to the myelomeningocele lesion using a common mathematical model, the Hagen-Poiseuille law. Fri, 01 Feb 2013 00:00:00 GMT http://hdl.handle.net/10147/275691 2013-02-01T00:00:00Z http://hdl.handle.net/10147/275595 Title: Not all twitching is epileptic! Hand myoclonus in a boy with spinal cord tumor. Authors: Allen, Nicholas M; Moran, Margaret M; King, Mary D Fri, 01 Feb 2013 00:00:00 GMT http://hdl.handle.net/10147/275595 2013-02-01T00:00:00Z