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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Acute autonomic and sensory neuropathy (AASN), one subtype of acute pandysautonomia, in which dorsal root ganglia and autonomic ganglia are involved is uncommon. Little is so far known on central nervous system involvement in AASN. In the present paper we described a rare case of AASN associated with the central nervous system manifestations such as galactorrhea-amenorrhea syndrome and intractable anorexia. A 30-year-old woman rapidly developed burning pain and numbness in her arms and legs as well as orthostatic syncope. She had severe anorexia and no no menstruation from onset. On physical examination, she was emaciated. There was marked orthostatic hypotension with tachycardia. Skin was dry. Moderate galactorrhea was detected. Neurological examination showed prominent paresthesia and dullness of superficial sensation, predominantly to pinprick and thermal stimuli, segmentally over the neck, occipital scalp, and extremities. Deep sensation was intact. She had no weakness or ataxia. Deep tendon reflexes were almost normal. NCV and SEP were normal, while EEG was abnormal. Sural nerve biopsy demonstrated axonal degeneration with the loss of myelinated, predominantly in small-caliber fibers, and unmyelinated fibers. The levels of HVA and MHPG in CSF were decreased. The autonomic nervous function tests revealed postganglionic dysfunction. alpha-adrenergic system was predominantly impaired, while beta-adrenergic system was relatively preserved. The endocrinological studies demonstrated mild or moderate elevation of PRL basal value and hyper-response of PRL and LH for TRH and LH-RH loading test, which suggested disorder of the hypothalamo-hypophysial system. Cranial MRI showed moderate dilatation of the 3rd ventricle.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Acute autonomic and sensory neuropathy associated with galactorrhea-amenorrhea syndrome and intractable anorexia]. 255 96

A case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome) with corneal endothelial abnormality is reported. A 22-year-old woman had retinitis pigmentosa, external ophthalmoplegia, complete heart block, ataxia, muscle weakness, dementia, sensorineural hearing loss, and was of short stature. Renal dysfunction, diabetes mellitus, and amenorrhea were also observed. Biopsy revealed decreased cytochrome c oxidase (complex IV) activity in muscle mitochondria. The corneal endothelium examined by specular microscope showed decreased cell density, severe polymegathism, and pleomorphism in both eyes. To our knowledge, this is the first report concerning primary corneal endothelial abnormality in a case with mitochondrial encephalomyopathy. The corneal endothelium is one of the tissues that could be affected by the enzyme deficiency present in this disease.
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PMID:Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). 274 82

Isolated central nervous system (CNS) granulomatosis resembling sarcoidosis occurred in a 30-year-old woman who had amenorrhea, ataxia, and obstructive hydrocephalus, and a 9-year course of progressive neurological deterioration with recurrent bouts of diabetes insipidus. Lamellar and nodular meningeal hyalinosis resembling amyloid was noted on an initial brain biopsy. At autopsy, the brain had a non-necrotizing granulomatous meningitis and ventriculitis, most prominent at the base of the brain, including the third ventricle and the hypothalamus, but there were no systemic granulomas.
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PMID:Isolated central nervous system granulomatosis resembling sarcoidosis. 279 4

Changes in sexual function in 47 women with advanced multiple sclerosis are described. Twenty eight (59.6%) of the women reported decreased sexual desire. Seventeen (36.2%) reported decreased lubrication. Five (10.6%) others did not know if they lubricated or not. Eighteen women (38.3%) reported diminished orgasmic capacity and six (12.8%) others had never had an orgasm. Sensory dysfunction in the genital area was experienced by 61.7% of the women and 76.6% had weakness of the pelvic muscles. Sixty six per cent had bowel problems and 89.4% had bladder dysfunction. The changes in sexual function correlated both with neurological symptoms from the sacral segments, such as weakness of the pelvic floor and bladder and bowel dysfunction, and to other symptoms such as ataxia and vertigo as well as with age and the occurrence of amenorrhoea. A significant correlation was found between expanded disability status scale (EDSS) score and cohabitation. Problems with sexual function were reported significantly more often by women with lower EDSS scores. Most women (83%) found the interview a positive experience.
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PMID:Sexual function in women with advanced multiple sclerosis. 760 15

In this study, 78 patients with aqueductal stenosis were submitted to detailed neurodevelopmental assessment with a follow-up of 5-25 years. Sixty-eight percent of patients were categorized as normal; they either attended normal school courses or had regular jobs. Among these, 34% had some motor abnormalities (ataxia, mild hemiparesis, visual disturbances). Twenty-four percent (19 cases) were moderately disabled (trainable retardation) and 8% (6 cases) were severely handicapped. Epilepsy was observed in 13% of the cases. Incidence of recurrent and generalized seizures paralleled neurodevelopmental outcome (5% in normal, 16% in moderately disabled and 50% in severely disabled patients). Endocrine dysfunctions were evident in 28% of the cases and were characterized by precocious or delayed puberty, amenorrhea and somatic underdevelopment. No patient with ventricular enlargement and a cortical mantle width below 20 mm showed a good outcome. Large ventricles were compatible with normal mental development when compensated with a corresponding cranial vault enlargement. In patients with normal mental status and motor abnormalities, long-term CT scan findings revealed the presence of focal brain abnormalities (poroencephaly, brain atrophy, calcifications, extracerebral collections).
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PMID:Long-term outcome in aqueductal stenosis. 777 81

We present two siblings with hereditary cortical cerebellar atrophy (CCA), who showed peculiar clinical features. Their unaffected parents are cousins. The mode of inheritance in this family was autosomal recessive. Both patients developed involuntary movement and ataxia during the fourth decade. The proband (patient 1) was the elder sister. She developed choreoathetoid involuntary movement and cerebellar ataxia at the age of 32. At the age of 39, she showed mental deterioration and marked gait disturbance due to severe ataxia and amyotrophy. At the age of 40, she took medication for hypertension. At the age of 42, she was bedridden and had generalized convulsions and dysautonomia. Involuntary movement continued until her death at age 44. She had amenorrhea since the age of 25 years. Neuropathological findings. The brain weighed 1,010 g. We found marked degeneration in the cerebellar cortex including the molecular, Purkinje cells, and granular cell layers, and in the inferior olivary nuclei. In the basal ganglia, the putamen and caudate nuclei were moderately affected, but the substantia nigra and globus pallidus were spared. The cerebral cortex was spared, but the cerebral white matter showed diffuse myelin pallor without fibrillary gliosis. In the pons, the volume of the tegmentum was moderately decreased, but the base was spared. The spinal cord was normal. The findings of the patient differed from those of the case originally reported by Gordon Holmes in 1907. Holmes autopsied a case showing severe degeneration in both the cerebellar cortex including all three layers and the inferior olivary nucleus as in our patient. However, the striatum of his case spared and the patient did not develop involuntary movement as did other patients. The patients presented here should be distinguished from Holmes' original case clinicopathologically.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:[Autosomal recessive hereditary cortical cerebellar atrophy with striatal degeneration--two siblings showing choreoathetoid movement, ataxia, dementia, and amenorrhea]. 806 39

Patients with multiple sclerosis sometimes show subthalamic lesions presenting syndrome of inappropriate secretion of ADH (SIADH), hypothermia, hyperprolactinemia, weight loss, and cachexia. Hyperprolactinemia also has been found in the patients with active systemic lupus erythematosus, because prolactin can be produced from human activated lymphocytes. We described a case of multiple sclerosis showing galactorrhea-amenorrhea syndrome with hyperprolactinemia. A 31-year-old woman showed a high level of prolactin in the serum (79.6 ng/ml) during remission stage 5 months after the onset of multiple sclerosis. She showed galactorrhea-amenorrhea syndrome 3 years later. She showed dysesthesia in her limbs, relapsing monoparesis, visual disturbance and Gd-enhanced plaques in Brain MRI for 6 years. She was admitted to our hospital on November 24, 1995. A neurological examination showed hyporeflexia of the upper extremities, hyperreflexia of the lower extremities, bilateral ankle clonus, truncal ataxia, and neurogenic bladder. Laboratory tests revealed increased level of serum prolactin, exaggerated secretion of serum prolactin after intravenous injection of 500 micrograms TRH, and marked suppression after oral administration of 2.5 mg bromocriptine. Brain MRI showed demyelinating lesions near the lateral ventricle, and cervical MRI (T2 image) showed high signal intensity lesions in the spinal cord from C2 to C5. In the previous case, galactorrhea-amenorrhea syndrome was found during the exacerbation stage of multiple sclerosis. Hyperprolactinemia may be caused from subthalamic lesions or by activated lymphocytes in multiple sclerosis. We considered that hyperprolactinemia and galactorrhea-amenorrhea syndrome in our patient might be caused from subthalamic lesions because lymphocytes were not activated during the remission stage of multiple sclerosis.
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PMID:[A case of multiple sclerosis with galactorrhea-amenorrhea syndrome]. 936 74

Acute autonomic and sensory neuropathy (AASN) is a rare neuropathy characterized by acute autonomic dysfunction and objective sensory disturbances. A 26-year-old pregnant woman with severe autonomic and sensory dysfunction is reported. This patient suddenly developed marked nausea and vomitting in about 2 days after having a sore throat. She then developed signs of autonomic dysfunction including dilated non-reactive pupils, dryness of the eyes and oral mucous membranes, generalized anhidrosis, paralytic ileus, orthostatic hypotension, and continuous tachycardia. She also had severe generalized sensory impairments of all modalities, and all deep tendon reflexes were absent. Sensation was almost totally lost for all modalities below the neck. There was marked pseudoathetosis and sensory ataxia in all extremities. Motor examination was normal. She had inability to urinate. At this time she was 38 weeks pregnant, and when she showed signs of fetal distress, a Caesarean section was performed. Albumino-cytological dissociation was seen in the CSF. Serum noradrenaline was reduced, no sensory nerve action potentials could be elicited, and reduced coefficient of variation of the R-R interval on electrocardiography was observed. Plasma exchange was performed every other day for 3 days for about 3 weeks after the onset of the illness, but no favorable effects. Seven months after the onset, her autonomic dysfunction slightly improved, but there was no recovery from the sensory disturbances. Many symptoms and signs that characterize AASN occurred in this patient, and each was severe. The patient developed SIADH, sleep apnea, personality change, and amenorrhea in the course of the disease. We suggest that AASN patients might have both peripheral and central nervous system manifestations including seizures and personality changes.
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PMID:[A severe case of acute autonomic and sensory neuropathy]. 986 13

Two adult sisters have vermian hypoplasia, ataxia, nystagmus, pontine divergence insufficiency, and mild to moderate intellectual disability, with an arrest of cerebral myelination resembling the pattern of a 4-month-old infant. Other abnormalities include high myopia, optic nerve hypoplasia, decreased bone density, hypoplasia of the secondary teeth, and amenorrhea. We did not find matching patients described in the literature. The sisters could represent a variant of one of the described syndromes of the cerebellocerebro-oculorenal spectrum, such as a variant of Joubert's syndrome, or a disorder sui generis within the spectrum.
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PMID:Vermian hypoplasia and arrested cerebral myelination in two sisters: variant of Joubert's syndrome or a new syndrome? 1469 2

Mitochondriopathies (MCPs) are either due to sporadic or inherited mutations in nuclear or mitochondrial DNA located genes (primary MCPs), or due to exogenous factors (secondary MCPs). MCPs usually show a chronic, slowly progressive course and present with multiorgan involvement with varying onset between birth and late adulthood. Although several proteins with signalling, assembling, transport, enzymatic function can be impaired in MCP, most frequently the activity of the respiratory chain (RC) protein complexes is primarily or secondarily affected, leading to impaired oxygen utilization and reduced energy production. MCPs represent a diagnostic challenge because of their wide variation in presentation and course. Systems frequently affected in MCP are the peripheral nervous system (myopathy, polyneuropathy, lactacidosis), brain (leucencephalopathy, calcifications, stroke-like episodes, atrophy with dementia, epilepsy, upper motor neuron signs, ataxia, extrapyramidal manifestations, fatigue), endocrinium (short stature, hyperhidrosis, diabetes, hyperlipidaemia, hypogonadism, amenorrhoea, delayed puberty), heart (impulse generation or conduction defects, cardiomyopathy, left ventricular non-compaction heart failure), eyes (cataract, glaucoma, pigmentary retinopathy, optic atrophy), ears (deafness, tinnitus, peripheral vertigo), guts (dysphagia, vomiting, diarrhoea, hepatopathy, pseudo-obstruction, pancreatitis, pancreas insufficiency), kidney (renal failure, cysts) and bone marrow (sideroblastic anaemia). Apart from well-recognized syndromes, MCP should be considered in any patient with unexplained progressive multisystem disorder. Although there is actually no specific therapy and cure for MCP, many secondary problems require specific treatment. The rapidly increasing understanding of the pathophysiological background of MCPs may further facilitate the diagnostic approach and open perspectives to future, possibly causative therapies.
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PMID:Mitochondriopathies. 1500 63


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