Riley-Day Syndrome (congenital familial dysautonomia).

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.

A Neuropathological Study of Familial Dysautonomia (riley-day Syndrome) in Siblings.

Familial 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...

Spondylodiscitis in familial dysautonomia: a case report.

Familial dysautomonia (FD, or Riley-Day syndrome) is a rare but fatal autosomal recessive peripheral neuropathy caused by a point mutation in I-κ-B kinase complex associated protein (IKBCAP) gene. The disease, that affects primarily people of Ashkenazi Jewish origin, prejudices the development of primary sensory neurons determining depletion of autonomic and sensory neurons. Musculoskeletal pro...

Syndromic 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...