Familial hypokalaemic periodic paralysis: prevention of paralytic attacks with lithium gluconate.
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Biomedical subjects
Publications and source records attributed to G Aimard.
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A 57 year-old woman developed a slowly progressive environmental agnosia and dressing apraxia without disturbances of language, memory, orientation and social activities. Two years later, alexia, agraphia, visual agnosia, constructional apraxia, simultagnosia and imitation apraxia of nonsymbolic gestures were also noted. Ophthalmic examination demonstrated a left inferior quadranopsia. Oral comprehension was normal. There was no loss of insight, and behavioral response was appropriately concerned. Computed tomography and magnetic resonance imaging revealed bilateral cortical atrophy in parieto-occipital areas, most pronounced on the right side, with enlargement of the ventricles. Positron emission tomography demonstrated low flow and metabolism values in the right parietal, temporal and occipital regions. This case is very similar to those of posterior cortical atrophy recently reported by Benson et al. (1988). It suggests a selectively degenerative dysfunction of posterior association cortex, sparing oral language and verbal memory.
Thirty-two consecutive cases of hypoglossal nerve palsy (excluding syringomyelia and amyotrophic lateral sclerosis) collected between 1971 and 1987 were reviewed. The XIIth nerve palsy was clinically isolated in 8 cases, associated with other cranial nerve palsies in 16 cases and with long tracts involvement in 8 cases. Seventeen cases were related to tumours. Malignant tumours were predominant, especially middle and posterior fossa bone metastases. Carcinomatous meningitis and brainstem glioma were also found, as well as lymphoproliferative disorders and benign tumours such as chemodectoma and neurinoma. A vascular origin was established in 6 cases, related to vertebrobasilar infarct, truncular ischaemia and internal carotid dissection. The paralysis was consecutive to head or neck trauma in 4 cases and to various inflammatory processes in 4 other cases. The last case was caused by Chiari's malformation. To our knowledge, this is the first aetiological review of XIIth nerve palsy in the literature.
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We report the case of myasthenia gravis in a 74-year-old woman, 2 weeks after acebutolol had been introduced as the sole treatment for systemic hypertension. The disease developed at a fulminant and fatal course despite drug withdrawal. The possibilities of coincidental association between the two events, triggering of a preexisting latent myasthenia gravis or full induction of the disease by acebutolol, are discussed.
Neoplastic angioendotheliosis is a rare, severe, disease characterized by neoplastic proliferation of mononuclear cells within the lumen of small blood vessels. The clinical signs are usually dermatological and neurological. We report the case of a 57 year old woman who died after 20 months of subacute dementia. She had had also transient recurrent episodes of right paresthesiae and paresis. CSF proteins were increased. MRI showed areas of high signal in the white matter. Post-mortem showed widespread ischemic lesions, mainly in the subcortical white matter. Microscopically there was marked proliferation of cells in most CNS blood vessels. Similar cells were present in adrenals, liver, uterus, lungs and kidneys. Immunohistochemical studies showed intensive staining for leukocyte common antigen and negative staining for factor VIII-related antigen, a specific endothelial cell marker.
A 33 year-old woman with multiple sclerosis developed bilateral palatal myoclonus. Rotatory pendular nystagmus and gaze-evoked nystagmus were present and analyzed by electro-oculographic recordings. Magnetic resonance imaging demonstrated abnormal signals in the pons. To our knowledge, this is the first report of palatal myoclonus in the course of a definite case of multiple sclerosis.
Three patients with adult-onset neuronal-ceroid lipofuscinosis (Kufs' disease) are presented. Two cases were familial (autosomal recessive inheritance) and 1 case was possibly sporadic. The main clinical feature was progressive deterioration of cognitive functions. In 2 siblings, aged 37 and 41, dementia was associated with personality and behaviour changes, suggesting a psychotic disorder and with dysarthria and tic-like dyskinetic movements. In a third patient, dementia was only associated with an asymptomatic pigmentary retinal degeneration. CT scan revealed diffuse cerebral atrophy in all cases. Diagnosis was established by brain biopsy in 2 cases. Autofluorescence emission and absorption spectra from the abnormal pigment was studied and was not found contributive.
A 67-year old woman presented with isolated and bilateral external ophthalmoplegia of the myasthenic type following a subacute course and resistant to anticholesterinases and corticosteroids. A biological hyperthyroidism with immunological markers was discovered. An intensive care of corticosteroids was partially effective, but fatal bone marrow aplasia attributed to carbimazole developed. Pure ophthalmoplegia without local signs of inflammation may be the sole manifestation of dysthyroid orbitopathy.
From a series of 15 consecutive patients with a normal-pressure hydrocephalus examined over 2 years. 10 showed frank improvement with oral acetazolamide. The drug was a first-choice treatment in 5 cases and was given up after a spinal tap in 5 cases. Clinical response occurred even in the most severe cases, although it was slightly less impressive for intellectual impairment than for gait or bladder disturbances. Tolerance was excellent with a daily dose of 250 to 500 mg. The benefit remained stable on a more than 1 year follow-up in 8 cases. We suggest that acetazolamide should be tried in patients with normal pressure hydrocephalus prior to considering shunting.
A 47 year-old man developed rapid visual loss, visual field defects and memory disturbances after radiotherapy with conventional doses for a pituitary metastasis from a renal carcinoma. CT and MRI did not show recurrent tumour, pituitary apoplexy or empty sella. Eventually, T2-weighted MRI images showed abnormal high signals in the optic chiasm, the left mesial temporal lobe and the right inferior frontal lobe, supporting the diagnosis of delayed radionecrosis. The role of chemotherapy associated with radiotherapy is discussed.
Neck pain and torticollis are very common symptoms, but they may reveal an intracranial or cervical neurological disease. Such diseases are easily diagnosed when these two symptoms are associated with others, but in some rare cases, and especially when it is isolated, torticollis may be mistaken for common neck pain. This is what happened in 21 cases and in some patients the neurological disease had been present for a very long time before it was diagnosed. Prior to admission, most patients were treated with massages, cervical collar or manipulations which sometimes resulted in deterioration. A search for atypical features of neck pain and torticollis should avoid delays in diagnosis.
The differential diagnosis of Alzheimer's disease is a problem that arises in different circumstances. At an advanced stage of the disease the symptoms are so typical that the clinical diagnosis can be made immediately. Complementary examinations (i.e. essentially computerized tomography) are performed to exclude other causes of amnesia and dementia, notably curable dementias. The diagnosis may be more difficult at the early stage of the disease in patients with only slight disorders of memory or certain types of depression. The same applies to cases with unusual presentation, focal symptoms, episodes of confusion, or delirium and hallucinations.
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A 76-year-old man suddenly presented with loss of motivation for speaking. He had no aphasia, depression or dementia, but he did not want to speak with other people. CT scan showed hypodensities, presumably lacunes, mainly in the anterior limb of the two internal capsules. Global behavioral changes with loss of self psychic activation have been reported, but in our patient the disturbance was restricted to oral language. The role of activating cortico-subcortical loops is discussed.