Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
 3,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a 75-year-old woman with multiple cranial nerve palsies. The patient was well until January, 1992 when she had an onset of deafness in her left ear; she developed left facial pain in September, 1992, and came to the ENT clinic of our Izunagaoka Juntendo Hospital. She had chronic sinusitis; she was referred to neurology clinic on September 25 because of decrease in the superficial sensation in the second division of the left trigeminal nerve. She developed blurring of her left vision, and was admitted to the neurology service of Juntendo Izunagaoka Hospital on December 7th, 1992. On admission, general physical examination was unremarkable. Neurologic examination revealed alert and mentally sound woman; higher cerebral functions were intact. In the cranial nerves, olfactory sensation was normal; the left vision was reduced to discriminate light and dark; the right vision was normal. Pupils were round and isocoric, but the light reflex was sluggish on the left side; the abduction of the left eye was impossible; other ocular muscles appeared intact. Sensation of the left face was almost completely lost; the corneal reflex was lost on the left side; no jaw deviation was noted. She had near complete left facial palsy of the peripheral type; the left ear was deaf. The movement of the left soft palate was slightly weak, but no deviation of the uvula was noted; she had no dysarthria or dysphagia.2/
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PMID:[A 75-year-old woman with multiple cranial nerve palsies and a paranasal mass]. 806 43

We report a family with five of six siblings (including identical male twins) with a novel constellation of immunologic and neurologic impairments. Affected subjects experienced severe dermatitis starting around 9 months of age, Stevens-Johnson syndrome in early childhood, and extreme elevations of IgE (9,400-43,000 IU/ml). The oldest sibling died at age 27 of respiratory failure following recurrent, severe pneumonias. All four surviving affected siblings have had chronic sinusitis or otitis, cutaneous vasculitis, and recurrent bacterial pneumonias leading to bronchiectasis. Neurologic features in all five siblings included oral motor deficits, dysarthria, low average IQ (70-80), and essential myoclonus. Four had documented ataxia and/or mild sensory loss with increased patellar but diminished ankle reflexes. The nonconsanguineous parents and one sibling had none of the above findings, consistent with autosomal recessive inheritance. This primary immunodeficiency with distinctive neurological impairments represents a new syndrome. Published 2003 Wiley-Liss, Inc.
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PMID:Familial immunodeficiency with cutaneous vasculitis, myoclonus, and cognitive impairment. 1498 14

Miller-Fisher syndrome (MFS) typically presents with ophthalmoplegia, ataxia, and areflexia. Atypical MFS additionally includes bulbar impairment, affection of the limbs, or abortive presentations. Mostly, MFS follows an infection with Campylobacter jejunii. Aspergilloma has not been reported to trigger MFS. In a 48-year-old male tiredness, tinnitus, otalgia, parietal hyperaesthesia, coughing, plugged nose, hypoacusis, globus sensation, epipharyngeal pain, dysarthria, hypogeusia, arthralgia, lid cloni, facial hypaesthesia and tooth ache consecutively developed. There were occasional lid cloni, left-sided facial hypaesthesia, reduced gag reflex, divesting soft palate, and absent tendon reflexes. CSF investigations revealed normal cell-count but increased protein. Antibodies against GM1 and GQ1b were negative. Atypical MFS was diagnosed. Otolaryngological examinations revealed chronic sinusitis maxillaris from an aspergilloma. After immunoglobulins and resectioning of the aspergilloma, neurological abnormalities disappeared within 19d. MFS may manifest as unilateral lower cranial nerve lesions without affection of the upper cranial nerves or ataxia. Atypical MFS may be triggered by parasinusoidal aspergilloma.
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PMID:Anti-GQ1b-negative Miller-Fisher syndrome with lower cranial nerve involvement from parasinusoidal aspergilloma. 1608 Nov 59