Peripheral nervous system manifestations of Chediak-Higashi disease
نویسندگان
چکیده
منابع مشابه
Electrodiagnostic study of peripheral nervous system in Behcet’s disease
Introduction: Bechcet’s disease (BD) is a chronic disease with multiple organ involvement such as central nervous system (CNS) and peripheral nervous system (PNS). Involvement of PNS has been reported controversially and uncommon in textbooks and literatures. The aim of this study in to evaluate the auxiliary role of electrodiagnosis in early detection of PNS involvement to prevent neuropathy...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملChediak-Higashi Syndrome
Impaired vision Photophobia Albinism of the OCA2 type, giving a lighter complexion than unaffected family members [6] Silvery sheen to hair which may be fair in colour Frequent infections (skin, mucous membranes, respiratory) Epilepsy Mental retardation Enlarged liver and spleen Jaundice Ataxia causing incoordination and a typical ataxic gait Tremor Epilepsy Peripheral neuropathy causing motor ...
متن کاملChediak-Higashi Syndrome
Chediak-Higashi syndrome which appears to be a lysosomal disease (Douglas and Fudenberg, 1969; White, 1966) is characterized by partial albinism, photophobia, recurrent infections, hepatosplenomegaly, and a distinctive leucocyte anomaly (Chediak, 1952; Higashi, 1954). Available genetic and fine structural studies suggest that the condition is inherited as an autosomal recessive trait (Sadan et ...
متن کاملPseudo Chediak-Higashi Anomaly
A 9-year-old girl was admitted to hospital with a 1-month history of fever, weight loss, epistaxis, and abdominal pain. The girl’s parents were non-consanguineous. Her medical history was unremarkable. Upon admission she weighed 27 kg (25th-50th percentile), was 131 cm tall (50th percentile), and was pale. Physical examination showed multiple cervical and inguinal microlymphadenopathies, withou...
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ژورنال
عنوان ژورنال: Muscle & Nerve
سال: 2016
ISSN: 0148-639X
DOI: 10.1002/mus.25259