A Neuropathological Study of Familial Dysautonomia (riley-day Syndrome) in Siblings.
نویسندگان
چکیده
منابع مشابه
Vestibular dysfunction in familial dysautonomia. The Riley-Day syndrome.
We report the bilateral absence of response to tests of vestibular function in 5 patients with familial dysautonomia.
متن کاملFamilial dysautonomia (Riley-Day syndrome).
Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abo...
متن کاملSyndromic Vignettes in Anaesthesia
ably affects development, as well as maintenance of neurons, because there is neuropathological and clinical progression. Inherited autonomic neuropathies are a rare group of disorders associated with sensory dysfunction. As a group they are termed the "hereditary sensory and autonomic neuropathies" (HSAN). Classification of the various autonomic and sensory disorders is ongoing. Phenotypic exp...
متن کاملFamilial dysautonomia.
Familial dysautonomia is a rare syndrome of childhood affecting the nervous system. As the name suggests, dysfunction of the autonomic system is a prominent feature. It was first recognized as a separate entity by Riley, Day, Greeley and Langford (1949), the first large series being described by Riley (1952). So far, about 70 patients have been recorded. Though the fully developed syndrome is u...
متن کاملThe Riley-Day syndrome
Familial dysautonomia (Riley et al., 1949) is an autosomal recessive disease affecting Jews of Eastern European ancestry (Brunt and McKusick, 1970). As the name implies the autonomic nervous system is defective, and this is seen clinically as defective control of temperature, blood pressure, and swallowing, by skin blotching, excessive sweating, lack of tearing, and bowel disturbance. Abnormali...
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ورودعنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 27 شماره
صفحات -
تاریخ انتشار 1964