Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0013362 (dysarthria)
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Neurological involvement occurred in every one of a series of 30 patients with an insulinoma. The episodic nature of the hypoglycaemia caused symptoms and signs to fluctuate and often led to delay in diagnosis (mean length of history was 3 years). The commonest feature at first presentation was confusion (20 instances), but as the illness evolved, coma (16 instances) and convulsions (8 instances) became more frequent. Objective weakness was found in 7 patients, with 3 examples of hemiparesis and 2 each of paraparesis and monoparesis; in all, the weakness resolved over a period of 1 hr to 3 days when normoglycaemia was maintained. Other neurological features included subjective visual disturbances, headache, dysarthria and ataxia. 220 patients with an insulinoma from 7 series in the literature were reviewed. The high incidence of neurological features was confirmed, with confusion (152 cases), coma (82 cases) and convulsions (58 cases) predominating. Visual disturbances were common, though not accurately quantified in some series. Objective evidence of weakness on the other hand was reported in only 6 of the 222 patients. Other less common symptoms included headache (18 instances) and peripheral paraesthesiae (14 instances). In the 7 series reviewed, as in our own, it was found that in any one patient, each episode of hypoglycaemia was accompanied by the same symptom complex. The presence of an insulinoma should be considered in any patient with unusual, or inexplicable neurological features, particularly when they are intermittent. The diagnosis can be confirmed by demonstrating an inappropriately high circulating insulin level, for the ambient blood glucose concentration.
Postgrad Med J 1984 Sep
PMID:Neurological aspects of insulinomas. 609 Oct 78

Motor function subserved by cranial nerves V, VII, X, XI, and XII was assessed in 100 patients with hemiparesis due to a unilateral vascular lesion of the cerebral hemisphere. Several of the findings were not described clearly in many of the standard textbooks of neurology. Weakness of sternomastoid when present was always contralateral to the hemiparesis. This emphasises the principle that the cerebral hemisphere controls movement of the body parts in or towards the contralateral half of the body rather than simply the contralateral muscle groups. An apparent exception to this was seen, however, in the small group of patients who had unilateral weakness of the tongue. In those patients deviation of the tongue was towards the hemiparetic side--that is, the cerebral hemisphere controlled the contralateral half of the tongue and hence protrusion towards the ipsilateral side. Mild dysarthria was common with both right and left sided hemiparesis.
Br Med J (Clin Res Ed) 1984 Sep 29
PMID:Lower cranial nerve motor function in unilateral vascular lesions of the cerebral hemisphere. 643 83

One week after chiropractic manipulations, a 60-year-old normotensive man suffered acute onset of vertigo, ataxia, and dysarthria. CT disclosed an isodense mass of the posterior fossa. Vertebral arteriography showed that the avascular mass arose from the right cerebellar hemisphere. Hydrocephalus developed, and suboccipital craniotomy revealed a large cerebellar hematoma due to a small arteriovenous malformation. A similar episode occurred 2 months later. CT isodense cerebellar hematomas should be considered before giving anticoagulant therapy.
Neurology 1983 Sep
PMID:Isodense cerebellar hematoma. 668 55

A 66-year-old man was admitted with 2-year history of progressing gait difficulty and speech disturbance. His neurological examination on admission demonstrated dysarthria, truncal ataxia, mild foot weakness and emotional incontinence. Computerized tomography revealed enlarged ventricle with marked brain stem atrophy. Cerebral angiography showed 90% stenosis of left upper vertebral artery, 90% stenosis of mid basilar artery, occlusion of right upper vertebral artery and 50% stenosis with ulcer of right cervical carotid artery. Right cervical carotid endarterectomy was carried out with continuous electroencephalography (EEG) monitoring. Post-operative course was uneventful and the patient had gradual neurological improvement. This case was reported to be of help to judge the indication of such operation in effectiveness and also the value of EEG monitoring during operation.
No Shinkei Geka 1982 Sep
PMID:[Cervical carotid endarterectomy for vertebrobasilar insufficiency]. 717 35

Only few cases with prolonged cerebellar symptoms after toluene sniffing have previously been reported. We describe here an 18-year-old female who inhaled pure toluene since the age of 12. She developed neurological symptoms with broad-based ataxic gait, incoordination of arms and legs, unsteadiness, dysarthria, downbeat nystagmus, bilateral positive Babinski sign, and poor concentration and abstracting ability. During her 5 weeks in hospital when she did not inhale toluene, her symptoms persisted but decreased and after 8 months had disappeared.
Acta Neurol Scand 1980 Sep
PMID:Cerebellar dysfunction related to toluene sniffing. 721 Nov 69

The clinical features of 115 patients from 90 families with Friedreich's ataxia are described. Onset of symptoms was before the age of 25 (mean 10.52) years in all the index cases. An analysis of early cases suggested that limb and truncal ataxia and absent tendon reflexes in the legs were the only consistent diagnostic criteria within five years of presentation. Dysarthria, signs of pyramidal tract dysfunction in the legs and loss of joint position and vibration sense are not necessarily present during the first five years of symptoms, but appear to develop eventually in all cases. Scoliosis and ECG evidence of cardiomyopathy were found in over two-thirds of the patients studied; pes cavus, distal amyotrophy, optic atrophy, nystagmus and deafness were all less frequent. The disorder was gradually progressive in all cases. The mean age of losing the ability to walk was 25 years; 95 per cent were chair-bound by the age of 44 years. About 10 per cent of the patients had diabetes mellitus which was controlled by oral hypoglycaemic drugs in one quarter. Diabetes appeared to be associated with a higher incidence of optic atrophy and deafness. Diabetes also clustered within sibships; the risk of an individual with Friedreich's ataxia developing diabetes if an affected sib has it is over 40 per cent. Similarly, cardiomyopathy ran true within affected members of the same sibship, but there were instances of discordance which suggest that the development of the non-neurological features of Friedreich's ataxia may be controlled by modifying genes rather than heterogeneity of the main gene. Segregation analysis and an increased consanguinity rate amongst parents of patients (5.55 per cent) confirmed that this disorder is of autosomal recessive inheritance. A study of 101 first degree relatives of the patients with Friedreich's ataxia failed to demonstrate any neurological or electrocardiographic abnormalities which could be ascribed to the heterozygous state.
Brain 1981 Sep
PMID:Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. 727 14

We present a rare case of thalamic germinoma with crossed aphasia in a dextral. A patient, 17-year-old righat-handed male, was admitted to Nippon Medical School Hospital with chief complaints of headache, abnormality of visual field and speech disturbance. There were pigmentations on the back of hand, foot and the perineum. Neurological examination revealed left homonymous hemianopsia, right slight degree of ptosis, left facial palsy, a mild paresis of the left upper extremity and motor aphasia. Right carotid angiography showed marked unrolling and midline shift of right anterior cerebral artery. CT scan revealed ring-like high density area in the right thalamic region, which was enhanced after constant infusion. Brain scintigraphy also showed an abnormal accumulation at the same site. The hen-egg sized tumor of 40 g. weight was almost totally removed by the right fronto-parietal craniotomy. The tumor was characterized histologically by the so-called two cell pattern with teratomatous components. As postoperative treatment local injection of adriamycine, irradiation and immunotherapy with picibanil were performed, and then left hemiparesis was markedly improved without sign of recurrence. Language evaluation was performed after operation. There were dysarthria, remarkable word amnesia, paraphasia and perseveration. Repetition was also impaired. His speech function was concluded to be a mixed type aphasia mainly composed of Broca's aphasia. The speech function of thalamus and crossed aphasia with dextrales were discussed.
No Shinkei Geka 1980 Sep
PMID:[A case of thalamic germinoma with crossed aphasia in a dextral (author's transl)]. 743 99

Three patients with transient cerebellar dysfunction following head injury are described. Acute cerebellar signs, such as ataxia, nystagmus, and dysarthria, occurred just after trauma and resolved gradually, disappearing in every patient. Cerebrospinal fluid and computed tomography examinations were normal but magnetic resonance imaging and single photon emission computed tomography revealed cerebellar lesions. These findings distinguish cerebellar concussion from cerebellar contusion and suggest that the synergistic effect of trauma and ischemia may be the pathophysiological basis of this unusual syndrome.
Neurol Med Chir (Tokyo) 1994 Sep
PMID:Cerebellar concussion--three case reports. 752 52

Long-term treatment with triethylene tetramine dihydrochloride, (trientine, TETA) was evaluated in 19 patients with Wilson's disease (WD). Two were given the drug as first choice and 17 after treatment with penicillamine. The change was made because of side-effects, lack of improvement or worsening of neurological symptoms. All penicillamine-induced side-effects reverted. Thirteen patients still receive trientine, and the mean total observation time on this treatment is 8.5 years/patient. Seven of the 13 are free from symptoms related to WD, five have mild to moderate neurological symptoms, mainly dysarthria. One patient with neurological symptoms who received trientine from the start of treatment deteriorated rapidly and is now severely dystonic. The symptoms initially worsened and later improved in one patient. All other patients improved during trientine treatment. Three patients died: two from a multifocal cancer including the liver and one non-complier from a ruptured spleen. Two patients underwent liver transplantation for progressive liver failure: one non-complier and one with liver cirrhosis whose liver function deteriorated despite treatment; both are now free from symptoms. Unexpectedly, two patients developed a serious colitis, one with duodenitis as well, that improved after withdrawal of the drug. No other unfavourable effects of trientine were recorded.
QJM 1995 Sep
PMID:Long-term treatment of Wilson's disease with triethylene tetramine dihydrochloride (trientine). 758 74

Hereditary haemochromatosis is characterised by excessive parenchymal iron deposition, particularly in the liver. Usually hereditary haemochromatosis is not associated with neurological symptoms and iron deposition in the brain has not previously been described as a pathological phenomenon. A patient is reported with hereditary haemochromatosis and a syndrome of dementia, dysarthria, a slowly progressive gait disturbance, imbalance, muscle weakness, rigidity, bradykinesia, tremor, ataxia, and dyssynergia. The findings on MRI of a large signal decrease in the basal ganglia, consistent with excessive iron accumulation, indicate a causal relation to the symptoms. Although the neurological symptoms did not improve in our patient, hereditary haemochromatosis should be considered in the differential diagnosis of parkinsonian syndromes, because complications of iron induced organ injury may be prevented by phlebotomy.
J Neurol Neurosurg Psychiatry 1995 Sep
PMID:Hereditary haemochromatosis: a case of iron accumulation in the basal ganglia associated with a parkinsonian syndrome. 767 67


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