Neurological manifestations of Ehlers-Danlos Syndrome.

Ehlers-Danlos Syndrome (EDS) is more identified for its cutaneous features but its neurological manifestations have not received the focused attention. Four patients of Ehlers-Danlos Syndrome (EDS) with neurological manifestations were evaluated for phenotypic data. These four men were from three families and two had consanguineous parentage. The mean age at onset and presentation of neurological symptoms were 10.5 years and 19 years respectively. Patient 1 presented with bilateral optic atrophy, sensorineural deafness, cerebellar ataxia and neuropathy. Patient 2 had marfanoid habitus, chorea and cerebellar ataxia. Patient 3 had action and percussion myotonia, wasting and weakness of sternocleidomastoid and distal limb muscles. Patient 4 had action myotonia, mirror movements of both hands and neuropathy. MRI of brain showed right parietal polymicrogyria. Neuroaxis involvement at multiple levels in EDS may have prognostic significance.

Spectrum of inherited myotonias and periodic paralyses

To study the spectrum of inherited myotonias and periodic paralyses in Saudi Arabia. Forty nine patients with electromyography confirmed mytonotic disorders and periodic paralysis were seen at King Khalid University Hospital between January 1985 and January 1998. Data was analyzed and available patients reassessed in order to document fully the various clinical features and ascertain the diagnosis and mode of inheritance. There are 11 patients with Thomsen's disease; 21 patients with Becker's disease, most of them had an early onset of 2-3 years; 12 patients with myotonic dystrophy; and 5 Filipino patients with periodic paralyses, 3 of them with associated thyrotoxicosis. The spectrum of these disorders is similar to that described in western reports, apart from 2 main differences. First, is the clear predominance of Beckeri's disease [45%] which has a lower age of onset. This is probably the result of the high local consanguinity rate. Secondly is the absence of periodic paralysis in Saudis, while some patient had associated thyrotoxicosis, which is well recognized in Far East populations. These disorders are poorly studied in Saudi Arabia deserve further epidemiological and genetic assessment

Schwartz-Jampel syndrome. A case report.

A rare case of Schwartz-Jampel Syndrome is reported. Its main oral and facial manifestations are highlighted.