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PubMed1999

Congenital intramedullary tumor with neonatal manifestations.

The authors report on a 45-day-old boy with a congenital intramedullary tumor with clinical manifestations since birth. Neurologic examination disclosed severe bilateral lower-limb hypotonia and diplegia, with exacerbated deep tendon reflexes and clonus associated with severe pain at manipulation. Further evaluation of this patient included screening for infections, computed tomographic scan, myelography, and somatosensory evoked potentials. The definite diagnosis was a solid holocord astrocytoma. This report discusses a rare disorder in the neonatal period and makes other medical practitioners aware of this diagnosis. Previously published literature is also reviewed.

Astrocytoma↗
PubMed1998

Neurologic factors associated with cognitive impairment in a rural elderly population in India: the Indo-US Cross-National Dementia Epidemiology Study.

Few reports exist of cognitive impairment and associated factors in developing countries. An age-stratified random sample of 388 men and women, 55 years and older, was drawn from a community-based population in the rural area of Ballabgarh in northern India. We classified as "cognitively impaired" those subjects who had scores below the 10th percentile of the population on a general mental status test (the Hindi Mental State Exam, HMSE) and, separately, on a memory test (Delayed Recall of a 10-Item Word List, DRWL). Three hundred seventy-six subjects also underwent a standardized neurologic history and examination. Neurologic factors associated with cognitive impairment, after adjusting for age, gender, and literacy, were history of impaired consciousness and findings of gait disturbance, diminished deep tendon reflexes, and the presence of at least one primitive reflex. We speculate that there may be unique risk factors in developing countries such as nutritional deficiencies leading to focal deficits and cognitive impairment.

Aged↗
PubMed1982

Treatment of podophyllin poisoning with resin hemoperfusion.

1 A 43-year-old man was admitted in a coma after oral ingestion of a suspected lethal dose of podophyllin solution in alcohol. 2 Hemoperfusion with a resin filter was started 7 h after ingestion. Hemoperfusion rapidly decreased plasma concentrations of podophyllotoxin with an extraction ratio of 0.76 over the filter. The relatively low plasma concentrations of podophyllotoxin and consequently small amount removed might be explained by the rapid metabolism of the drug to an unknown derivate. 3 This metabolite was completely cleared during passage over the filter, suggesting the removal of significant amounts of podophyllotoxin metabolites. 4 No neurological deficit was observed before or after hemoperfusion. At a two-month follow-up the patient remained healthy. Hemoperfusion may possibly prevent the development of coma and neurologic deficit with loss of deep tendon reflexes.

Adult↗
PubMed1996

Acute myopathy associated with combined use of corticosteroids and neuromuscular blocking agents.

OBJECTIVE: To review the occurrence and pathophysiology of myopathy associated with combined use of neuromuscular blocking agents (NMBAs) and systemic corticosteroids. DATA SOURCES: A MEDLINE search (1985 to July 1995, English language) yielded case reports and clinical studies involving myopathy or weakness associated with the use of NMBAs and/or corticosteroids. References cited in those articles were reviewed. DATA SYNTHESIS: Prolonged muscle weakness has been reported in intubated patients in the intensive care unit (ICU) who were receiving NMBAs and/or corticosteroids. Many cases involved the use of both agents in individuals with no underlying risk factors. The term "blocking agent-corticosteroid myopathy" (BACM) has been used to describe this myopathy when it develops following combined use of these agents. Features common to BACM include prolonged weakness, elevated creatine kinase concentrations, myopathic features on electromyography, normal nerve conduction and sensation, and reduced deep tendon reflexes. Muscle biopsy results vary, but tend to show type 1 and/or 2 fiber atrophy without inflammation. Some recently reported cases revealed thick myosin myofilament loss, which is consistent with findings in denervated rat muscle after exposure to corticosteroids. Two small prospective studies reported that 36-50% of mechanically ventilated patients receiving either one or both drugs developed prolonged weakness. CONCLUSIONS: NMBAs and corticosteroids alone have both been reported to cause myopathy in patients in the ICU. When coadministered, these agents appear to confer an even greater risk of myopathy; the exact pathology is not understood. Concomitant use of NMBAs and corticosteroids should be avoided if possible. Guidelines for cautious use and careful monitoring are suggested when combined use is deemed necessary.

Anti-Inflammatory Agents↗
PubMed2003

Clear cell ependymoma with a lipidized component that developed in the thoracic spinal cord.

The authors report a case of clear cell ependymoma with a lipidized component that developed in the thoracic spinal cord. A 59-year-old man was admitted to the hospital with an itchy pain in the left forearm to the left anterior and lateral chest for the past three years. Neurological findings on admission included dissociated sensory disturbance below the C8 level and increased deep tendon reflex in both lower extremities. An MRI scan of the spinal cord revealed an intramedullary tumor with a longer diameter of 3.5 cm at the T3-T4 level and a distended syrinx at the T2-T3 level. Surgery was performed after T1-T5 laminectomy. The gray, soft and well demarcated tumor was removed subtotally. Light microscopy revealed a portion where clear cells proliferated and a portion where foamy cells proliferated. In some tissue, there were a very few nuclear areas suggestive of a perivascular pseudorosette. Neither nuclear division nor necrosis was observed. Immunohistochemically, the tumor cells were positive for glial fibrillary acidic protein (GFAP), epithelial membrane antigen (EMA), vimentin, and negative for cytokeratin, synaptophysin. The MIB-1 staining index was 0.25%. Based on these findings, diagnosis of clear cell ependymoma with a lipidized component was made.

Ependymoma↗
PubMed2006

Autosomal recessive cerebellar ataxias.

Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This group encompasses a large number of rare diseases, the most frequent in Caucasian population being Friedreich ataxia (estimated prevalence 2-4/100,000), ataxia-telangiectasia (1-2.5/100,000) and early onset cerebellar ataxia with retained tendon reflexes (1/100,000). Other forms ARCA are much less common. Based on clinicogenetic criteria, five main types ARCA can be distinguished: congenital ataxias (developmental disorder), ataxias associated with metabolic disorders, ataxias with a DNA repair defect, degenerative ataxias, and ataxia associated with other features. These diseases are due to mutations in specific genes, some of which have been identified, such as frataxin in Friedreich ataxia, alpha-tocopherol transfer protein in ataxia with vitamin E deficiency (AVED), aprataxin in ataxia with oculomotor apraxia (AOA1), and senataxin in ataxia with oculomotor apraxia (AOA2). Clinical diagnosis is confirmed by ancillary tests such as neuroimaging (magnetic resonance imaging, scanning), electrophysiological examination, and mutation analysis when the causative gene is identified. Correct clinical and genetic diagnosis is important for appropriate genetic counseling and prognosis and, in some instances, pharmacological treatment. Due to autosomal recessive inheritance, previous familial history of affected individuals is unlikely. For most ARCA there is no specific drug treatment except for coenzyme Q10 deficiency and abetalipoproteinemia.

Abetalipoproteinemia↗
PubMed2004

Congenital dopamine-beta-hydroxylase deficiency in humans.

Dopamine-beta-hydroxylase (DbetaH) deficiency is a rare autosomal dominant disorder. Due to the absence of DbetaH, there is a blocked conversion of dopamine into norepinephrine. The biochemical hallmark of this syndrome consists of a complete absence of plasma norepinephrine and epinephrine levels in conjunction with an increased plasma dopamine level. Several mutations in the gene that encodes for DbetaH have been described. Up to now, worldwide, 12 patients have been reported. The most important clinical feature is a severe orthostatic hypotension. In addition, several other clinical features like blepharoptosis, hyperflexible joints, high palate, sluggish deep tendon reflexes, and a mild normocytic anemia have been described. The only effective treatment of DbetaH deficiency is L-threo-3,4-dihydroxyphenylserine (DOPS). DOPS is converted directly into norepinephrine. Treatment with DOPS results in a sustained relief of orthostatic symptoms.

Dopamine beta-Hydroxylase↗
PubMed2005

Neurological complications of celiac disease and autoimmune mechanisms: preliminary data of a prospective study in adult patients.

Antibodies to gangliosides and Purkinje cells have been reported in patients with celiac disease (CD) with neuropathy and ataxia, respectively. Whether these antibodies are pathogenic is not clear. The response of neurological symptoms and antibody titers to a gluten-free diet is still controversial. The objective of our study was to assess whether neurological manifestations in CD patients correlate with antibody titers and a gluten-free diet.Thirty-five CD patients (9 males, 26 females, mean age 37.1 +/- 12.6 yrs) were followed prospectively. At initial evaluation, 23 were on a gluten-free diet, 12 were not. At recruitment and during follow-up, patients underwent neurological and electrophysiological evaluation. IgG, IgM, and IgA anti-ganglioside antibodies were assayed by ELISA; anti-neuronal antibodies were assessed by immunohistochemistry and Western blot. Four patients, all males, had electrophysiological evidence of neuropathy; three had been on a gluten-free diet for several months, and one was newly diagnosed. One had reduced tendon reflexes; another complained of distal paresthesias. With regard to anti-ganglioside antibodies, three patients had a moderate increase in antibodies without symptoms or signs of neuropathy. No patients had ataxia or cerebellar dysfunction, although in four patients reactivity to neuronal antigens was found. In 17 patients, an electrophysiological follow-up (mean duration of follow-up, 9 months) showed no changes. In conclusion, the preliminary results of this prospective study indicate that neuropathy, usually subclinical, may accompany CD. Antibody titers do not seem to correlate with neurological symptoms/signs or diet. Ongoing follow-up will help confirm these data and clarify the role, if any, of antibodies in neurological involvement in CD.

Adult↗
PubMed1993

Pathogenesis of immune-mediated neuropathies.

A variety of peripheral neuropathies are believed to be immune-mediated. Acute inflammatory demyelinating polyneuropathy or Guillain-Barré syndrome (GBS) is the prototype of these neuropathies. GBS is characterized by acute progressive motor weakness of the extremities and of bulbar and facial musculature. Deep tendon reflexes are reduced or absent, and sensory symptoms are mild. Respiratory failure and autonomic dysfunction may be seen. The cerebrospinal fluid shows increased protein and no or very few cells. The nerve conduction velocity is slowed, and the pathology shows segmental demyelination with mononuclear cell infiltration. Studies from man and experimental animals suggest an immunologic basis for demyelination of the peripheral nerves in GBS, but the mechanism is not well understood. Experimental allergic neuritis, an animal model of GBS, is induced in laboratory animals by immunization with myelin P2 protein, some peptides of P2 protein, and galactocerebroside. The animals develop weakness and show electrophysiologic and pathologic features similar to GBS. P2-reactive T cells and antigalactocerebroside antisera can adoptively transfer experimental allergic neuritis. Various antibodies to peripheral nerve myelin and circulating immune complexes have been found in patients with GBS. The target antigen(s) for these antibodies are not well understood, but neutral glycolipids cross-reactive with Forssman antigen and gangliosides are possible candidates. The mainstay of therapy is the management of the paralyzed patient. Steroids are ineffective. Plasmapheresis, especially early in the course of the disease, can shorten the duration of paralysis and intubation. Results from a multicenter study in the Netherlands demonstrate the efficacy of high-dose immune globulin therapy in GBS.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1990

Defective neuromotor and cognitive ability in iodine-deficient schoolchildren of an endemic goiter region in Sicily.

Visual perceptual integrative motor ability was investigated in 719 6- to 12-yr-old, presumably normal, primary schoolchildren living in 2 iodine-deficient endemic goiter areas in Sicily, identified on the basis of the presence (area A) or absence (area B) of endemic cretinism, by administrating the Bender Gestalt test. All of these clinically euthyroid schoolchildren were also examined neurologically by an investigator unaware of the result of the Bender test. Ninety-nine (13.76%) schoolchildren were found to be defective by the Bender test; this prevalence was significantly higher than that (3.0%) found in an iodine-sufficient goiter-free control area (area C) lying at sea level (chi 2 = 36.25; P less than 0.000001). No difference in the prevalence of Bender abnormalities was apparent if the children were divided according to the area of provenience (area A, 14.4%; area B, 13.1%). A high percentage of children falling in the lower range of normality was found in both area A (15.5%) and area B (19.0%); this was significantly higher than that in area C (3.8%; chi 2 = 77.55; P less than 0.000001). Neuromuscular and neurosensorial abnormalities, including increased tendon reflexes, clonus of the foot, Babinski sign, minor disturbances in balance, and gait, and minor defects in hearing and speech, were apparent in 19.3% (area A) and 18.5% (area B) of the children. These disorders were significantly more frequent in defective children identified by the Bender test (33.3%) than in normal children (15.3%; (chi 2 = 17.29; P less than 0.00005). The general intellectual aptitude in Bender deficient subjects was evaluated by the Terman Merrill test and was found to be impaired in 95%, thus confirming the existence of an endemic cognitive deficiency (ECD), distinct from the endemic mental deficiency previously found in other endemic goiter, iodine-deficient areas. ECD seems to be epidemiologically independent of the existence of endemic cretinism. Further clinical auxological and biochemical studies in a selected group of ECD children suggested the epidemiological and, possibly, pathogenic association of cognitive impairment with iodine deficiency.

Bender-Gestalt Test↗
PubMed1999

The thyroid hormone receptor-beta gene mutation R383H is associated with isolated central resistance to thyroid hormone.

Resistance to thyroid hormone (RTH) action is due to mutations in the beta-isoform of the thyroid hormone receptor (TR-beta). RTH patients display inappropriate central secretion of TRH from the hypothalamus and of TSH from the anterior pituitary despite elevated levels of thyroid hormone (T4 and T3). RTH mutations cluster in three hot spots in the C-terminal portion of the TR-beta. Most individuals with TR-beta mutations have generalized resistance to thyroid hormone, where most tissues in the body are hyporesponsive to thyroid hormone. The affected individuals are clinically euthyroid or even hypothyroid depending on the severity of the mutation. Whether TR-beta mutations cause a selective form of RTH that only leads to central thyroid hormone resistance is debated. Here, we describe an individual with striking peripheral sensitivity to graded T3 administration. The subject was enrolled in a protocol in which she received three escalating T3 doses over a 13-day period. Indexes of central and peripheral thyroid hormone action were measured at baseline and at each T3 dose. Although the patient's resting pulse rose only 11% in response to T3, her serum ferritin, alanine aminotransferase, aspartate transaminase, and lactate dehydrogenase rose 320%, 117%, 121%, and 30%, respectively. In addition, her serum cholesterol, creatinine phosphokinase, and deep tendon reflex relaxation time fell (25%, 36%, and 36%, respectively). Centrally, the patient was sufficiently resistant to T3 that her serum TSH was not suppressed with 200 microg T3, orally, daily for 4 days. The patient's C-terminal TR exons were sequenced revealing the mutation R383H in a region not otherwise known to harbor TR-beta mutations. Our clinical evaluation presented here represents the most thorough documentation to date of the central thyroid hormone resistance phenotype in an individual with an identified TR-beta mutation.

Body Weight↗
PubMed2004

Sensory exam with a quantitative tuning fork: rapid, sensitive and predictive of SNAP amplitude.

BACKGROUND: In the standard neurologic examination, outcome measures of sensation testing are typically qualitative and subjective. The authors compared the outcome of vibratory sense evaluation using a quantitative Rydel-Seiffer 64 Hz tuning fork with qualitative vibration testing, and two other features of the neurologic evaluation, deep tendon reflexes and sensory nerve conduction studies. METHODS: The authors studied 184 subjects, including 126 with Waldenström's macroglobulinemia and 58 controls, over the course of a weekend. Standard neurologic examinations and quantitative vibratory testing were performed. Sensory nerve action potentials (SNAP) were tested as a measure of sensory nerve function. Tests were carried out by different examiners who were blinded to the results of other testing and to clinical information other than the diagnosis of Waldenström's macroglobulinemia. RESULTS: Quantitative vibration measurements in all body regions correlated with sural SNAP amplitudes. Quantitative vibration outcomes were more strongly related to sural SNAP results than qualitative evaluations of vibration. Quantitative vibration testing also detected a loss of sensation with increased age in all body regions tested. CONCLUSIONS: Quantitative vibratory evaluation with Rydel-Seiffer tuning fork is rapid, has high inter- and intrarater reliability, and provides measures for evaluating changes in sensory function over time. Examinations with the quantitative tuning fork are also more sensitive and specific than qualitative vibration testing for detecting changes in sensory nerve function. Use of the quantitative tuning fork takes no more time, provides more objective information, and should replace the qualitative vibratory testing method that is now commonly used in the standard neurologic examination.

Action Potentials↗
PubMed2006

Natural history of Type A Niemann-Pick disease: possible endpoints for therapeutic trials.

OBJECTIVE: To describe the disease course and natural history of Type A Niemann-Pick disease (NPD). METHODS: Ten patients with NPD-A (six male, four female; age range at entry: 3 to 6 months) were serially evaluated including clinical neurologic, ophthalmologic, and physical examinations, and assessment of development. Laboratory analyses, abdominal and brain ultrasounds, and chest radiographs also were obtained and information on intercurrent illnesses and cause of mortality was collected. RESULTS: All affected infants had a normal neonatal course and early development. The first symptom detected in all patients was hepatosplenomegaly. Developmental age did not progress beyond 10 months for adaptive behavior, 12 months for expressive language, 9 months for gross motor skills, and 10 months for fine motor skills. Non-neurologic symptoms included frequent vomiting, failure to thrive, respiratory infections, irritability, and sleep disturbance. Neurologic examination at the time of presentation was normal in most patients. Later neurologic examinations revealed progressive hypotonia with loss of the deep tendon reflexes. All patients had cherry red spots by 12 months. The median time from diagnosis to death was 21 months. The cause of death was respiratory failure in nine patients and complications from bleeding in the tenth. CONCLUSIONS: The clinical course in Type A Niemann-Pick disease is similar among affected patients and is characterized by a relentless neurodegenerative course that leads to death, usually within 3 years.

Child Development↗
PubMed1976

Krabbe's leukodystrophy without globoid cells.

Krabbe's infantile cerebral sclerosis with a prolonged course was present in a boy who became increasingly hypertonic during infancy and had an increased protein level in the spinal fluid. At 4 years he showed significant growth failure, profound mental retardation, spastic quadriplegia, bilateral optic atrophy, and depressed tendon reflexes. Conduction velocity in motor fibers of the median nerve had become progressively impaired. Autopsy at 5 years 10 months showed severe leukodystrophy with demyelination and gliosis. No stored breakdown products or globoid cells were seen in the brain. Galactosyl ceramide beta-galactosidase was virtually absent, and hardly any myelin was demonstrable on chemical and electron microscopic studies. The presence of globoid cells may not be essential for the pathologic diagnosis of Krabbe's leukodystrophy in the presence of appropriate enzyme deficiency.

Brain↗
PubMed1978

Assessing segmental excitability after acute rostral lesions. I. The F response.

F responses were elicited from both hands of patients shortly after they sustained unilateral cerebrovascular lesions. In 17 of 29 patients, significant abnormalities were found; F responses occurred with decreased persistence and/or amplitude on the clinically involved side, a change which was seen only in patients studied within 4 weeks of the ictus. The most prominent changes (in comparison with the clinically uninvolved side) occurred with extensive lesions. The abnormalities of F response correlated clinically with severity of the weakness, decrease in tone, and decrease in deep tendon reflexes. These changes in F response are consistent with a decreased "central excitatory state" at the spinal segmental level during the early phase after a supratentorial stroke.

Cerebrovascular Disorders↗
PubMed1979

Familial amentia, unusual ventricular calcifications, and increased cerebrospinal fluid protein.

A sibship originally reported by Friedman and Roy as showing severe mental retardation, strabismus, hyperactive tendon reflexes, lalling speech, and foot deformities was restudied. Three major additional findings were noted. The cerebrospinal fluid protein concentration was increased two to three times above normal in four siblings who were available for study. Radiographs of cranial structures in three siblings showed identical pathologic intracranial calcifications which correspond in distribution to the choroid plexus. The choroid plexus was not demonstrable in one patient when radiolabeled 99m-Tc-pertechnetate was injected without perchlorate. Neuropathologic findings in one sibling included small subcortical heterotopias and atrophy of the choroid plexus with encasement by glial fibrils. These findings denote a new heredofamilial neurologic syndrome associated with mental retardation and a disorder of choroid plexus.

Atrophy↗
PubMed1979

Isaacs syndrome with laryngeal involvement: an unusual presentation of myokymia.

A woman with widespread myokymia presented initially at age 19 with hoarseness and mild dyspnea on exertion. The diagnosis of Isaacs syndrome was suggested by the clinical findings of widespread continuous muscle activity and depressed tendon reflexes, although she lacked the usually prominent increased muscle tone. The diagnosis was confirmed by the electromyographic demonstration of continuous spontaneous muscle action potentials that were abolished by neuromuscular blockade but not by local nerve blockade. Pulmonary function tests were consistent with fixed extrathoracic obstruction. The vocal cords were closely approximated. Electromyographic studies of the laryngeal muscles under general anesthesia revealed continuous muscle activity, which accounted for the hoarseness and much of the exertional dyspnea. The patient responded well to treatment with phenytoin and carbamazepine. This unusual syndrome should be considered in the differential diagnosis of patients with respiratory complaints and muscle fasciculations, even though they have normal muscle tone.

Action Potentials↗
PubMed1983

Joseph disease in a non-Portuguese family.

We studied four patients with Joseph disease in a Japanese family. There were two clinical types in the family. One was characterized by pyramidal and cerebellar signs with or without extrapyramidal signs; the other, by cerebellar signs, loss of tendon reflexes, and peripheral sensory loss. The family tree indicated autosomal-dominant inheritance. Neuropathologic examination revealed marked degeneration of the substantia nigra, dentate nuclei, Clarke column, and anterior horn cells of the spinal cord. This is the first report of pathologically proven Joseph disease in a non-Portuguese family.

Adult↗