Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0029089 (ophthalmoplegia)
 3,338 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Two brothers, a seven-year-old male and a nine-year-old female are reported. Clinical features include scholar troubles and clumsiness, hepatosplenomegaly, vertical supranuclear ophthalmoplegia and ataxic gait. Moreover, the girl showed intention tremor. Foamy histiocytes were seen in bone marrow and some Niemann-Pick type Kupffer cells were present in liver. Girl's conjunctival biopsy showed lamellar inclusions. Biochemical studies were performed in girl's skin and liver biopsies. Sphingomyelinase activity assayed with 14C sphingomieline in cultured skin fibroblasts was 26% at the mean control value. Liver lipid composition did not show an appreciable increase of sphingomyelin or cholesterol, but bis (monoacylglyceryl) phosphate was clearly elevated. These data are compatible with Niemann-Pick disease type C.
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PMID:[Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis]. 301 38

A new patient with Leigh's syndrome (subacute necrotizing encephalomyelopathy due to pyruvate dehydrogenase complex deficiency) is presented. A Turkish boy of consanguinously married healthy parents developed progressive muscle weakness since infancy. At the age of 3 years he was unable to sit, stand or walk. Clinical examination showed general muscle weakness, hypotonia, muscle hypotrophy, bilateral ptosis, partial bilateral external ophthalmoplegia, nystagmus, intention tremor and hypoactive tendon reflexes. The EEG showed diffuse slowing, the cerebral CT scan disclosed mild hydrocephalus e vacuo. Motor nerve conduction velocity was slightly decreased, the EMG revealed signs of neuropathy. In the biopsied muscle only a mild hypotrophy of type 2 fibres was found, no abnormal mitochondria could be detected. The sural nerve was slightly abnormal: loss of large myelinated axons, loss of unmyelinated nerves. CSF protein was elevated to 80 mg/dl, protein electrophoresis revealed the pattern of markedly impaired blood-CSF barrier. Serum lactate and pyruvate were permanently elevated. In the urine the excretion of alanine was raised. The clinical state deteriorated during intercurrent infections; somnolence, vomiting and Cheyne-Stoke's respiration occurred. At the age of 3 1/2 years the child died of pneumonia. In the liver tissue a decreased activity of the pyruvate dehydrogenase complex was found. Neuropathological examination of the brain demonstrated wide-spread changes of Leigh's spongiform encephalopathy. Several enzyme deficiencies have hitherto been associated with Leigh's syndrome: This patients confirms earlier findings that a subgroup of Leigh's syndrome is caused by pyruvate dehydrogenase complex deficiency.
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PMID:[Leigh's subacute necrotizing encephalomyelopathy due to decreased activity of the pyruvate dehydrogenase complex]. 312 26

A 24-year-old male suffered from acute-onset right-sided hemiparesis, dysarthria, and ophthalmoplegia in February 2001. Brain magnetic resonance imaging revealed a cavernous angioma with hemorrhage over the left thalamus. Moreover, some rhythmic, coarse, low-frequency (2-3 Hz) oscillation over the right wrist and elbow was noted 1 month later. Action tremor was more predominant than resting tremor. Rubral tremor was diagnosed on the basis of the clinical presentation and tremography analysis. Rubral tremor is not unusual, and pharmacotherapy is nearly always ineffective in clinical practice. Deep brain stimulation, thalamotomy, and pallidotomy are all considered effective according to recent research. However, they are either very expensive or invasive, and involve surgical risks. In our patient, we tried valproate, clonazepam, and verapamil one after another, but all in vain. Finally, titration of trihexyphenidyl provided significant benefit. The tremor was successfully controlled by a single high daily dose of trihexyphenidyl (38 mg) without severe or uncomfortable side effects. Here, we report a case of successful monotherapy of rubral tremor with high-dose trihexyphenidyl.
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PMID:Successful treatment of rubral tremor by high-dose trihexyphenidyl: a case report. 1660 80

We present a 69 year-old man with hypertension who developed the sudden onset of horizontal binocular diplopia and stuttering of speech. On examination, bilateral exotropia (i.e. 'wall-eyed') was observed in the primary position. Attempted horizontal saccades revealed bilateral internuclear ophthalmoplegia; all consistent with the wall-eyed bilateral internuclear ophthalmoplegia (WEBINO) syndrome. Convergence, vertical saccades and vestibular ocular reflexes were likewise impaired. Pupillary and levator palpebrae superioris functions were intact. Mild left-sided dysmetria, intention tremor and dysdiadochokinesia were elicited. Conspicuously, further characterization of the patient's history revealed that he had stuttered as a child, but it had resolved in adolescence. Brain MRI revealed an acute infarction of the mesencephalic and upper pontine tegmentum involving the periaqueductal gray region and the medial longitudinal fasciculus bilaterally with greater involvement of the left. Like the WEBINO syndrome, re-emergent developmental stuttering is a rare neurologic phenomenon. To our knowledge, this is the first case report of a mesencephalic and upper pontine infarction causing both syndromes. We discuss the pathobiological underpinnings of the WEBINO syndrome and neurogenic stuttering and in relationship to this unusual case.
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PMID:WEBINO and the return of the King's Speech. 2217 81