Oculocutaneous Albinism Presenting with Congenital Nystagmus and Positional Vertigo; A Case Report.
نویسندگان
چکیده
منابع مشابه
Sitting-up vertigo and trunk retropulsion in patients with benign positional vertigo but without positional nystagmus.
BACKGROUND Presently, the unambiguous diagnosis of benign paroxysmal positioning vertigo (BPPV) requires the detection of positioning or positional nystagmus provoked by Dix-Hallpike (for vertical semicircular canals) or supine roll (for horizontal semicircular canals) manoeuvres, which indicates canalo- or cupolithiasis of affected semicircular canals. There are patients, however, in whom--des...
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To the Editor, Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive inherited disorder characterized by variable degrees of oculocutaneous albinism, severe immune deficiency and unassociated lymphoproliferative syndrome, and intracytoplasmic giant granules in leukocytes, monocytes, platelets, melanocytes, and erythroid precursors [1,2,3,4,5]. CHS is caused by mutations in the lysosomal...
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Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A b...
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Involvement of the superior semicircular canal (SSC) in benign paroxysmal positional vertigo (BPPV) is rare. SSC BPPV is distinguished from the more common posterior semicircular canal (PSC) variant by the pattern of nystagmus triggered by the Dix-Hallpike position: down-beating torsional nystagmus in SSC BPPV versus up-beating torsional nystagmus in PSC BPPV. SSC BPPV may be readily treated at...
متن کاملPosterior Semicircular Canal Benign Paroxysmal Positional Vertigo Presenting with Torsional Downbeating Nystagmus: An Apogeotropic Variant
The aim of this study is to verify the hypothesis that free-floating particles could sometimes localize into the distal portion of the non ampullary arm of the posterior semicircular canal (PSC) so that assuming the Dix-Hallpike's positions, the clot could move towards the ampulla eliciting a inhibitory torsional-down beating paroxysmal positional nystagmus (PPNy), instead of typical excitatory...
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ژورنال
عنوان ژورنال: Practica Oto-Rhino-Laryngologica
سال: 1993
ISSN: 1884-4545,0032-6313
DOI: 10.5631/jibirin.86.1095