1/72. Lessons to be learned: a case study approach. Primary hyperparathyroidism simulating an acute severe polyneuritis.The case is presented of a 65 year old lady with recent onset of neuromuscular manifestations, comprising paraparesis, areflexia and unsteady gait, along with episodes of slurring of speech and diplopia, later confirmed to be due to severe hypercalcaemia--which itself was caused by primary hyperparathyroidism. Restoration of normocalcaemia, by means of rehydration and bisphosphonate therapy, resulted in clinical improvement--whilst subsequent parathyroidectomy was followed by complete resolution of all symptoms. In order to make prompt differentiation between the neurological sequelae of hyperparathyroidism and a primary neurological disorder, a high index of suspicion is required. An urgent serum calcium assay, as part of a bone profile, is mandatory in patients who present with neurological symptoms--especially the elderly, amongst whom hyperparathyroidism is especially common.- - - - - - - - - - ranking = 1keywords = areflexia (Clic here for more details about this article) |
2/72. A large Japanese family with machado-joseph disease: clinical and genetic analysis.We report clinical and genetic studies on a large Japanese family with machado-joseph disease (MJD), in which various different clinical phenotypes were seen in the same family, i.e., cerebellar ataxia type, severe amyotrophy type, and young-onset parkinsonism type. In addition, patients with very mild symptoms (formes frustes) were encountered. The expansion of the CAG repeat at the MJD locus ranged from 64 to 71 in 7 affected and 4 presymptomatic individuals. In our family, no clear inverse correlation was noted between the length of CAG-expansion and the age of onset, or the clinical phenotypes. Hyporeflexia was a common manifestation seen in 5 patients. It has been reported that the presence of peripheral neuropathy in MJD is associated with smaller increase in the CAG repeats; findings in our family conform with this observation.- - - - - - - - - - ranking = 0.003354733378201keywords = ataxia (Clic here for more details about this article) |
3/72. pain and the guillain-barre syndrome in children under 6 years old.During a 15-year period, 29 children, under the age of 6 years, with acute guillain-barre syndrome were seen at our institution. A review of their charts revealed that pain was a symptom in all patients and was present on admission in 79% of cases. pain was often the most important symptom and led to misdiagnosis in 20 patients (69%). In 11 of these children, symptoms were present for more than a week before the correct diagnosis was made. The most common pain syndrome was back and lower limb pain, present in 83% of patients. Pediatricians should consider guillain-barre syndrome in their differential diagnosis when faced with a child who has lower limb pain and areflexia.- - - - - - - - - - ranking = 1keywords = areflexia (Clic here for more details about this article) |
4/72. Friedreich's ataxia presenting as adult-onset spastic paraparesis.We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness. The predominant feature of his initial neurological examination was a spastic paraparesis, along with a mild distal weakness and hyperreflexia of the upper limbs. He also displayed limb ataxia. Frataxin GAA repeat sizes were 1,040/690. This unusual FRDA presentation is not dissimilar to that of Acadian spastic ataxia.- - - - - - - - - - ranking = 0.023483133647407keywords = ataxia (Clic here for more details about this article) |
5/72. Human immunodeficiency virus-associated pure motor lumbosacral polyradiculopathy.BACKGROUND: Neuromuscular disease is a common manifestation of human immunodeficiency virus infection and acquired immunodeficiency syndrome, but isolated and severe pathology confined to the motor roots or anterior horn cells are not a recognized clinical entity. OBJECTIVE: To describe the novel clinical presentation of human immunodeficiency virus-related polyradiculopathy manifesting as isolated severe motor symptoms confined to the legs. DESIGN: A case series comprising 4 patients identified prospectively during a 6-month period. SETTING: patients were seen in the Department of neurology, Groote Schuur Hospital, Cape Town, south africa. This is an 800-bed teaching hospital, with approximately 5000 patients seen annually in the Department of neurology. patients: patients were identified by their unique presentation with a severe isolated motor neuropathy in the lower limbs. All were Xhosa-speaking African women. RESULT: Early human immunodeficiency virus infection may be associated with pure motor lumbosacral polyradiculopathy. CONCLUSION: It remains unclear whether this clinical syndrome should be regarded as a variant of the guillain-barre syndrome or whether it represents a unique disorder associated with early human immunodeficiency virus infection.- - - - - - - - - - ranking = 2.455600291136E-5keywords = variant (Clic here for more details about this article) |
6/72. Spasticity due to phenytoin toxicity.A young epileptic presented with spasticity as well as ataxia, diplopia and nystagmus; his serum phenytoin level was very high. All the abnormal signs disappeared after withdrawal of phenytoin. Spasticity, hyperreflexia, and clonus are features of phenytoin intoxication, present in this case, which are not commonly seen, and which have rarely been mentioned previously in the literature.- - - - - - - - - - ranking = 0.003354733378201keywords = ataxia (Clic here for more details about this article) |
7/72. Isolated vestibular areflexia after blunt head trauma.The sudden unilateral loss of vestibular function is a frequent cause of vertigo. This condition is called vestibular neuronitis or vestibular neuritis. Its cause remains unknown, but many authors consider it to be a sequel of vestibular viral infection. We report the history and clinical findings of 5 patients in whom a unilateral vestibular loss occurred after head trauma. None of these patients complained of hearing loss. In all cases, the vertigo gradually subsided over days or weeks. The follow-up showed the partial recovery of vestibular function in 2 cases, while vestibular areflexia persisted in 3. The clinical course and findings were similar in every respect to those in patients with classic idiopathic vestibular neuronitis.- - - - - - - - - - ranking = 5keywords = areflexia (Clic here for more details about this article) |
8/72. Leptomeningeal signet-ring cell carcinomatosis presenting with ophthalmoplegia, areflexia and ataxia.We report a very rare case of occult leptomeningeal carcinomatosis (LC) in whom repeated cytological examination did not show malignant cells in cerebrospinal fluid (CSF) and the primary focus was not discovered by extensive survey. The patient presented with ophthalmoplegia, ataxia and areflexia mimicking miller fisher syndrome (MFS) at the initial stage, and later, the clinical profile and laboratory findings including CSF examination simulated tuberculous meningitis. Postmortem autopsy disclosed metastatic signet-ring cell carcinoma infiltrating into cranial nerves and leptomeninges. We would like to emphasize that LC sometimes shows symptoms and signs similar to MFS or tuberculous meningitis.- - - - - - - - - - ranking = 5.2093069420555keywords = areflexia, ophthalmoplegia, ataxia (Clic here for more details about this article) |
9/72. Selective loss of cholinergic sudomotor fibers causes anhidrosis in Ross syndrome.Ross syndrome consists of segmental hyperhidrosis with widespread anhidrosis, adie syndrome, and areflexia. The cause of this disorder is unknown. Selective degeneration of cholinergic fibers or of neural crest-derived structures has been suggested. We present clinical and skin biopsy data of 4 patients, providing evidence of reduced cholinergic sweat gland innervation in hypohidrotic skin by morphometric analysis. These findings indicate a selective degenerative process of the cholinergic sudomotor neurons.- - - - - - - - - - ranking = 1keywords = areflexia (Clic here for more details about this article) |
10/72. Sudden deafness and anterior inferior cerebellar artery infarction.BACKGROUND AND PURPOSE: Acute ischemic stroke in the distribution of the anterior inferior cerebellar artery (AICA) is known to be associated with vertigo, nystagmus, facial weakness, and gait ataxia. Few reports have carefully examined the deafness associated with the AICA infarction. Furthermore, previous neurological reports have not emphasized the inner ear as a localization of sudden deafness. The aim of this study was to investigate the incidence of deafness associated with the AICA infarction and the sites predominantly involved in deafness. methods: Over 2 years, we prospectively identified 12 consecutive patients with unilateral AICA infarction diagnosed by brain MRI. Pure-tone audiogram, speech discrimination testing, stapedial reflex testing, and auditory brainstem response were performed to localize the site of lesion in the auditory pathways. electronystagmography was also performed to evaluate the function of the vestibular system. RESULTS: The most common affected site on brain MRI was the middle cerebellar peduncle (n=11). Four patients had vertigo and/or acute auditory symptoms such as hearing loss or tinnitus as an isolated manifestation from 1 day to 2 months before infarction. Audiological testings confirmed sensorineural hearing loss in 11 patients (92%), predominantly cochlear in 6 patients, retrocochlear in 1 patient, and combined on the affected side cochlear and retrocochlear in 4 patients. electronystagmography demonstrated no response to caloric stimulation in 10 patients (83%). CONCLUSIONS: In our series, sudden deafness was an important sign for the diagnosis of AICA infarction. Audiological examinations suggest that sudden deafness in AICA infarction is usually due to dysfunction of the cochlea resulting from ischemia to the inner ear.- - - - - - - - - - ranking = 0.003354733378201keywords = ataxia (Clic here for more details about this article) |
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