Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis
نویسندگان
چکیده
منابع مشابه
Periodic hypersomnia, congenital ectodermal disorders and multiple exostosis.
A case of periodic hypersomnia in an 11-year-old female with the unique features of mental deficiency, incontinentia pigmenti, acanthosis nigricans and hereditary multiple exostosis (diaphysial aclasis) is reported. The clinical, polysomnographic and Multiple Sleep Latency test features of this case with a follow up of seven years are consistent with a diagnosis of periodic (intermittent) exces...
متن کاملHereditary multiple exostosis.
Hereditary multiple exostosis is an intriguing genetic condition with a clinical impact in the field of orthopaedics, paediatrics and oncology. In this review we highlight the current knowledge about this condition from a clinical and scientific point of view. This gives us more insight into the molecular mechanisms and current models on which therapeutic agents are based. It allows for a multi...
متن کاملCongenital Ectodermal Dysplasia
Two cases of phenotypically similar ectodermal dysplasia characterised by reduction of hair, diminished sweat pores, missing teeth and somewhat cracked and abnormal skin were studied to understand the genetic basis of this disorder with the help of pedigrees. The mode of inheritance in one case was suggested to be x-linked where as in the other case it was autosomal recessive. (JPMA 35 225, 1985).
متن کاملCase series of three children and adolescents with periodic hypersomnia
Background: Periodic hypersomnias in children and adolescents are described according to etiological groups like: 1) idiopathic the Kleine Levin syndrome (KLS) and its clinical variants 2) organic and 3) other psychiatric conditons. KLS is described as a triad of recurrent hypersomnolence, hyperphagia, and hypersexuality. However, an incomplete presentation characterized by hypersomnia without ...
متن کاملResting state functional connectivity in patients with periodic hypersomnia
M. Engström, T. Karlsson, and A-M. Landtblom IMH/Radiological Sciences/CMIV, Linköping University, Linköping, Sweden, Behavioural Sciences and Learning/CMIV, Linköping University, IKE/Neurology/CMIV, Linköping University Introduction The Kleine–Levin Syndrome (KLS) is a rare but relatively well-defined disorder characterised by excessive sleep periods (periodic hypersomnia) associated with beha...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 1989
ISSN: 0004-282X
DOI: 10.1590/s0004-282x1989000100010