X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
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To date over 150 X linked mental retardation (XLMR) conditions have been documented. We describe a five generation South African family with XLMR, comprising 16 affected males and 10 carrier females. The clinical features common to the 16 males included profound mental retardation (100%), mutism despite apparently normal hearing (100%), grand mal epilepsy (87.5%), and limited life expectancy (68.8%). Of the four affected males examined, all had mild craniofacial dysmorphology and three were noted to have bilateral ophthalmoplegia and truncal ataxia. Three of 10 obligate female carriers had mild mental retardation. Cerebellar and brain stem atrophy was shown by cranial imaging and postmortem examination. Linkage analysis shows the gene to be located between markers DXS424 (Xq24) and DXS548 (Xq27.3), with a maximum two point lod score of 3.10. (+info)
Computerised tomography in Tolosa-Hunt syndrome.
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Twelve patients who satisfied the clinical criteria of Tolosa-Hunt syndrome (THS), underwent axial computerised tomography (CT) scan of the head. Two patients had abnormalities detected in the cavernous sinus on the affected side which supported the clinical diagnosis. This coupled with steroid responsiveness and long-term asymptomatic follow-up firmly established the diagnosis of THS. We discuss the computerised tomographic findings seen in THS and the relevance of using accurate imaging techniques as the first line of investigation in these cases. (+info)
Extraocular muscle responses to high dose intravenous methylprednisolone in myasthenia gravis.
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Three patients with generalised myasthenia gravis and three with ocular myasthenia gravis received two to five courses of high dose intravenous methylprednisolone because of the failure of standard immunomodulating therapies. Changes in myasthenic signs were assessed using a four step system for grading muscle weakness and fatiguability in 10 test items. Although a brief and modest amelioration was found from day 1 to day 2 after the initial infusion in two patients with generalised myasthenia gravis, all three experienced a prolonged phase of worsening followed by improvement before the next course. Conversely, for two of the patients with ocular myasthenia gravis, a transient but dramatic improvement of ptosis and ocular immobility was noted from 90 minutes to 5 hours after initiating the first infusion, followed by mild or no exacerbation. This 3 hour improvement may be related not only to possible differences in the neuromuscular junction, but also to corticosteroids unmasking the central adaptation for the peripheral ocular muscle weakness by increasing the acetylcholine release. (+info)
Traumatic trochlear nerve palsy following minor occipital impact--four case reports.
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Four patients presented with transient trochlear nerve palsy following occipital impact. The impact was slight in all patients, and neuroimaging found no lesions of the nerve. Three patients had delayed onset. Two patients did not complain of diplopia, but were only aware of blurred vision. In such patients, the head tilting test was useful for diagnosis. Minor occipital impact can cause trochlear nerve palsy, which requires careful neurological examinations to identify. (+info)
Anti-GQ1b IgG antibody syndrome: clinical and immunological range.
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OBJECTIVES: To clarify the nosological relation among Miller Fisher syndrome (MFS), Guillain-Barre syndrome (GBS) with ophthalmoplegia, Bickerstaff's brain stem encephalitis (BBE), and acute ophthalmoparesis without ataxia. Serum samples from patients with each condition often have anti-GQ1b IgG antibody. METHODS: Information on antecedent illness, initial symptoms, neurological signs during the illness, and CSF findings were reviewed in 194 patients with anti-GQ1b IgG. It was determined whether overlapping MFS and GBS (MFS/GBS), as well as overlapping BBE and GBS (BBE/GBS), is explained by the combined action of anti-GQ1b IgG and anti-GM1 or anti-GD1a IgG, serological markers of GBS. RESULTS: Based on the diagnostic criteria, all the patients with acute ophthalmoparesis, MFS, MFS/GBS, BBE/GBS, and BBE had external ophthalmoplegia; all the patients with MFS, MFS/GBS, or GBS had hyporeflexia or areflexia; and all those with MFS and BBE showed ataxia. Tendon reflexes were decreased or absent in 91% of those with BBE/GBS, 67% of those with BBE, and 53% of those with acute ophthalmoparesis. Ataxia was present in 68% of the patients with MFS/GBS and 45% of those with BBE/GBS. Antecedent illness caused by upper respiratory tract infection had occurred in 60% to 80% of these patients, and CSF albuminocytological dissociation in 25% to 75%. Anti-GM1 or anti-GD1a IgG was present in 50% of those with GBS, 35% of those with MFS/GBS, 27% of those with BBE/GBS, 16% of those with MFS, and 8% of those with BBE. CONCLUSIONS: These findings together with the common autoantibody (anti-GQ1b IgG) suggest that a common autoimmune mechanism functions in the pathogenesis of these illnesses. In a larger study, it was confirmed clinically that MFS, GBS, BBE, and acute ophthalmoparesis are closely related, forming a continuous range. This is supported by the immunological findings. The term "anti-GQ1b IgG antibody syndrome" is not intended to be used as a clinical diagnosis, but recognition of this syndrome is useful for understanding the aetiological relation among the various illnesses and for introducing the established treatments of GBS for use with other conditions. (+info)
Non-invasive screening for surgical intracranial lesions.
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The value and reliability of the combined results of skull radiographs, electroencephalography, echoencephalography, isotope angiography, and brain scanning in 147 patients suspected of having an intracranial space occupying lesions are analysed. The overall accuracy of the technique was 79%. No false negatives were found. The advantages of adopting the system proposed by the authors in everyday clinical work is discussed. (+info)
Tolosa-Hunt syndrome. The dangers of an eponym.
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Two cases of painful ophthalmoplegia are described which were initially thought to be examples of the Tolosa-Hunt syndrome. Both were partially responsive to steroid treatment. Subsequent investigations showed that in one case the condition was due to an aneurysm and in the other to a malignant lymphoma. (+info)
Carotid cavernous fistula due to a ruptured intracavernous aneurysm of the internal carotid artery: treatment with selective endovascular occlusion of the aneurysm.
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Intracavernous carotid artery aneurysms causing a carotid-cavernous fistula (CCF) are rare. These aneurysms usually cause neurological symptoms due to gradual expansion without rupture. If they do rupture they most often lead to a CCF instead of bleeding into the subarachnoid space. A patient is described with a ruptured intracavernous aneurysm causing a CCF resulting in acute onset of unilateral ophthalmoplegia. Selective coil embolisation of the aneurysm led to complete occlusion of the CCF with preservation of the internal carotid artery; symptoms resolved completely. (+info)