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Acoustic, Bilateral Schwannoma
Posted on July 23, 2011 |
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Acoustic, Unilateral Neuroma
Posted on July 23, 2011 |
A schwannoma that arises from the vestibular division of the vestibulocochlear nerve and tends to present in the fifth or sixth decade of life. Clinical manifestations include loss of hearing, headache, vertigo, facial pain, tinnitus, and facial weakness. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)
Acoustic, Abnormal Reflex
Posted on July 23, 2011 |
An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes.
Acoustic, Bilateral Neurofibromatosis
Posted on July 23, 2011 |
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Acoustic, Bilateral Neuroma
Posted on July 23, 2011 |
An autosomal dominant disorder characterized by a high incidence of bilateral acoustic neuromas as well as schwannomas (NEURILEMMOMA) of other cranial and peripheral nerves, and other benign intracranial tumors including meningiomas, ependymomas, spinal neurofibromas, and gliomas. The disease has been linked to mutations of the NF2 gene (GENES, NEUROFIBROMATOSIS 2) on chromosome 22 (22q12) and usually presents clinically in the first or second decade of life.
Academic (PT) Review
Posted on July 23, 2011 |
A more or less comprehensive review of the literature on a specific subject, with usually an extensive critical analysis and synthesis of the literature.
Academic [Publication Type] Review
Posted on July 23, 2011 |
A more or less comprehensive review of the literature on a specific subject, with usually an extensive critical analysis and synthesis of the literature.
Academic Review
Posted on July 23, 2011 |
A more or less comprehensive review of the literature on a specific subject, with usually an extensive critical analysis and synthesis of the literature.
Accessory, Male Sex Organs
Posted on July 23, 2011 |
The male reproductive organs. They are divided into the external organs (penis, scrotum, and urethra) and the internal organs (testis, epididymis, ductus deferens, seminal vesicle, ejaculatory duct, prostate, and bulbourethral gland.
A-alphalipoprotein Neuropathy
Posted on July 23, 2011 |
A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118)