Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “REFLEX, TENDON”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 1,153 records · Page 64Linked to original sources
PubMed1999

[A case of myotonic dystrophy showing proximal dominant muscle involvement but not myotonia].

A 45-year-old female had progressive difficulty in climbing stairs and standing from a chair for 10 years. She had binocular cataracts which were operated at the age of 42 years. On examination, she had marked muscle wasting in the proximal limbs, scapular and sternomastoid muscles. She presented as marked muscle weakness in the proximal portion of the lower extremities and moderate in the upper extremities and the legs. Deep tendon reflexes were absent in all limbs. There was no grip myotonia, or percussion myotonia of the thenar muscle and tongue. Myotonia was not elucidated even after the hands were exposed to cold water. Moreover, none of the examined muscles revealed insertion myotonic discharge on electromyography. Serum CK level was normal and IgG value decreased to 546 mg/dl. Muscle biopsy of the left biceps muscle showed the variation in fiber size, increased central nuclei and many fiber with pyknotic nuclear clumps on HE staining. Sarcoplasmic mass and ring fibers were also found on HE staining. There were a few percents of ragged-red fibers on Gomori-trichrome staining, and type 1 fiber atrophy was found on pH 4.5 ATP-ase staining. The expansion of lymphocyte CTG trinucleotide repeats in the myotonin protein kinase gene was about 733, so that she was diagnosed as having myotonic dystrophy (MD). MRI of skeletal muscles exhibited marked atrophy especially in the femoral region and the biceps muscle. This patient had the proximal dominant muscle weakness, and absent myotonia even on electromyographic examination, which are unusual clinical features of adult onset MD.

Atrophy↗
PubMed1999

[A case of adult neuronal ceroid lipofuscinosis type A].

A 20-year-old Japanese woman was diagnosed as suffering from adult type A neuronal ceroid lipofuscinosis (NCL) by rectal biopsy in the first year of manifestation. Her sister was in good health, and her parents were non-consanguineous. She had graduated from a public high school and then went to a typist school, when she developed action myoclonus and dystonia. On admission, she was of short stature and her clinical features included high arched palate, cataracta, and accentuated deep tendon reflexes. Her IQ was 50. Visual failure was not observed. Brain MRI showed no abnormalities. Together with myoclonus and the abnormalities in EEG which included poly spike and wave complex, progressive myoclonus epilepsy was considered as differential diagnoses. Ultrastructurally, lipopigments of granular matrix and curvilinear profile were found in Schwann cells in rectal biopsy. Adult NCL, known as Kufs' disease, is classified into two clinical types; progressive myoclonus epilepsy (type A) and dementia with motor disturbance (type B). Adult NCL is very rare in Japan, and this is the first report of adult NCL type A in Japan.

Adult↗
PubMed1999

[An autopsy case with lower motor neuron disease showing a transient-appearance of anti-GM1 antibody and an improvement of conduction block after gamma-globulin administration].

We report a 63-year-old man who died of respiratory failure. He was well until 1992 (57 years of his age), when he had an onset of progressive weakness of the bilateral upper limbs. He showed no improvement with TRH administration in other hospital. On January 12, 1994, he admitted to our department because of the progressive muscle weakness. Neurologic examination revealed a muscular atrophy associated with severe weakness and hyporeflexia in both upper limbs, and fasciculation were seen in his tongue. Electrophysiological studies revealed mild conduction block in the left medial nerve, and F-waves were not evoked in the left ulnar nerve and bilateral median nerves. After an administration of 25 g/day of human gamma-immunoglobulin for 5 days, conduction block as well as F-wave abnormalities in the left median and left ulnar nerve were improved, yet no improvement of muscle weakness was seen. The anti-GM1 IgG titer was transiently elevated in the patient's serum after gamma-immunoglobulin therapy. On September 8, 1994, subtotal gastrectomy was performed because of the early stage gastric cancer. Histological examination showed poorly differentiated adenocarcinoma (signet-ring cell carcinoma). His muscle weakness had been gradually extended to the lower limbs and he couldn't walk himself on January, 1998. On March, 1998, he developed tetraplegia, mild dysphagia, dysuria and the respiratory disturbance. On April 12, 1998, he admitted to our department for the second time. Neurologic examination revealed a muscular atrophy and fasciculation associated with severe weakness in all of his limbs, tongue and musclus masseter. Neither deep tendon reflex nor pathologic reflex was evoked in his upper and lower extremities. His ocular movements and sensations were well preserved. He died of respiratory failure on May 1, 1998. The patient was presented in a neurological CPC. Neurological and laboratory findings suggested a spinal progressive muscular atrophy (SPMA). However, there were several unusual points as a typical SPMA in this case, that is, an improvement of the electrophysiological abnormalities by gamma-globulin treatment, as well as transient elevation of anti-GM1 antibody. The clinical neurologists have arrived at the conclusion that the patient had lower motor neuron syndrome associated with anti-ganglioside antibody and cause of death was ascribed to the respiratory failure. We discussed whether this case was SPMA or multifocal motor neuropathy. Postmortem examination revealed numerous diverticulums in the ascending colon and lymphothyroiditis. No recurrent carcinoma was detected. Neuropathologically, both severe atrophy of the anterior spinal roots, and severe gliosis and neuronal loss in the anterior horn of the spinal cord were observed. Onuf nuclei were not affected. Neurogenic muscular atrophy was detected in the tongue, diaphragm, and limb muscles. Motor neurons of the brainstem were relatively preserved, but skein-like inclusions as detected by anti-ubiquitin antibody, were present in the facial and hypoglossal nuclei. Neither motor cortex nor cortico-spinal tracts were affected. Demyelination, remyelination or cellular infiltrations were not apparent in the right median nerve and sciatic nerves. The neuropathologic features were compatible with SPMA.

Autoantibodies↗
PubMed1999

[A posterior horn syndrome presumably due to direct trauma to the sacral cord: a rare complication of epidural anesthesia].

I report here a case of a posterior horn syndrome presumably due to sacral cord injury during the procedure of epidural anesthesia. A 43-year-old female underwent hysterectomy for myoma uteri. The operation was initially planned to be performed under epidural anesthesia. When a needle was inserted at the level of Th 12/L 1, she felt severe pain in the medial aspect of the left thigh. After the operation under general anesthesia, intolerable pain continued in the buttocks, the medial aspect of the left thigh, and the posterolateral aspect of the left lower leg. Lumbar MR images demonstrated slight disc hernia but no intra- and extramedullary hematomas. Seven weeks after the operation, she was referred to my clinic for neurologic evaluation. Motor functions were intact. Knee jerks on both sides were hyperactive; other tendon reflexes were normal. Plantar reflexes were indifferent. Thermal and pin-prick sensations were lost in the left S1 dermatome, and moderately impaired in the left S2 dermatome. Light touch and vibration sense showed no remarkable changes. Her sensory disturbance could have been caused by a lesion involving the left posterior horn and lateral spinothalamic tract within the S1 segment of the spinal cord.

Adult↗
PubMed1999

[Central pontine myelinolysis induced by hyperemesis gravidarum].

An 18-year-old woman in her first pregnancy with hyperemesis gravidarum, presented dehydration, without hyponatremia. She was confused with profound disorientation, apathy, and drowsiness. She presented upbeating nistagmus on upward gaze and gate ataxia recognised as Wernicke's encephalopathy. Laboratory tests demonstrated hypokalemia, hypernatremia and aminotransferase elevation. The serum osmolality was 319 mOsm/kg and the water deficiency 2.73 l. The patient developed weakness in the four limbs, with hypotonicity, absence of tendon reflexes and showed bilateral Babinski signs. A T2 weighted sagittal cranial-magnetic resonance imaging revealed a high signal within mid-pons suggesting central pontine myelinolysis. In this case we highlight the absence of hyponatremia. Furthermore, the central pontine myelinolysis was probably secondary to hypokalemia, hypernatremia and hyperosmolality.

Adolescent↗
PubMed1999

[Myasthenia gravis with electrophysiological features of Lambert-Eaton myasthenic syndrome: usefulness of serum autoantibodies assay and neuromuscular junction biopsy].

A 60-year-old man with a 40-year history of seronegative ocular myasthenia gravis (MG) developed generalized weakness cumulating crisis over 2 years. On admission, ophthalmoplegia, severe ptosis and marked generalized weakness were observed without autonomic symptoms and signs. The deep tendon reflexes were decreased, but were normalized after repeated muscle contractions. EMG of the abductor digiti minimi muscle showed low amplitude in compound muscle action potentials (0.6 mV), waxing phenomenon (292%) with 20 Hz repetitive nerve stimulation (RNS), waning phenomenon (34%) in 3 Hz RNS, and posttetanic facilitation (393%). Stimulated single fiber EMG showed reduced jitter with higher stimulation rates. Serum anti-P/Q-type voltage-gated calcium channel antibodies were negative with no evidence of malignancy. Sensitive assay of acetylcholine receptor antibody in serum revealed a positive titer, while conventional assay was negative. A muscle biopsy was performed and immune complex deposition was demonstrated at the endplate. A nearly complete clinical remission and normalization of electrophysiological features followed immunoadsorption and prednisolone therapy. A sensitive immunoassay of acetylcholine receptor antibodies and immunolocalization of complement at the endplate are useful diagnostic tools in cases presenting with features of myasthenia gravis and Lambert-Eaton myasthenic syndrome.

Autoantibodies↗
PubMed1999

[A case of motor and sensory polyneuropathy with retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis].

We here report a 53-year-old man who presented with motor and sensory polyneuropathy, retinitis pigmentosa and diffuse idiopathic skeletal hyperostosis (DISH). He had a 15-year history of diabetes mellitus (DM). Visual impairment appeared at 17 years of age. Since age 47, he showed a slowly progressive sensory impairment and muscle weakness of the extremities. On neurological examination, retinitis pigmentosa and severe muscle atrophy, muscle weakness and sensory disturbance of all modalities in the distal portions of all four extremities were observed. Deep tendon reflexes were absent. A plain X-P showed diffuse ossification of the spinal and extraspinal ligaments. The motor nerve conduction velocities were severely reduced and no sensory nerve action potentials were evoked. The CSF examination revealed an increased protein level without pleocytosis. The sural nerve biopsy showed a marked onion bulb formation and a loss of the myelinated nerve fibers, which could not be solely explained by DM. As the phytanic acids levels, beta-lipoprotein, lactate and pyruvate in the sera were within the normal ranges, Refsum disease, Bassen-Kornzweig syndrome and mitochondrial diseases were unlikely in this patient. The presence of demyelinating and axonal polyneuropathy in this patient may have been caused by a common metabolic disturbance which produced both retinitis pigmentosa and DISH.

Diabetes Complications↗
PubMed1999

[Severe forms of eosinophilic meningitis in infants of Mayotte. Apropos of 3 cases].

BACKGROUND: Eosinophilic meningitis caused by Angiostrongylus cantonensis is widespread in Southeast Asia and the Pacific islands. Adults develop transient meningitis with a benign course, whilst severe or fatal disease may occur in pediatric patients. CASE REPORTS: Three infant girls, aged 8 to 11 months, living on the island of Mayotte, developed fever, hypotonia, coma (2 cases), and, for one of them, seizures. Eosinophilia was detected in the peripheral blood and cerebrospinal fluid. Secondary, flaccid quadraplegia (1 case) or paraplegia (2 cases) with absence of deep tendon reflexes, urinary retention and anal incontinence were noted. Three patients had autonomic dysfunction. Computerized tomography showed enlarged ventricles and cerebral subarachnoid spaces. One patient had sequelae. Two patients could not be followed. Retrospectively, the diagnosis of angiostrongylus infection was established for two infants by a serological study. CONCLUSION: We report three new cases of infants with severe Angiostrongylus cantonensis infection in the French island of Mayotte (Comoro Islands). In this Indian Ocean area, eosinophilic meningitis seems to occur exclusively in infants and with severe radiculomyeloencephalitic forms.

Angiostrongylus cantonensis↗
PubMed1999

Preformatted admission charts for poisoning admissions facilitate clinical assessment and research.

STUDY OBJECTIVE: The assessment of patients with poisoning should include assessment of psychiatric details, the level of consciousness, and clinical features occurring in a number of toxidromes (toxicology syndromes). To ensure these aspects were routinely covered, we introduced a preformatted chart (PFC) to record our poisoning admissions. The aim of our study was to determine whether using a PFC improved the quality, accuracy, and completeness of the data obtained from admissions with poisoning. METHODS: Clinical details recorded on patients admitted with tricyclic antidepressant, neuroleptic, or carbamazepine poisoning between 1987 and 1994 were compared according to whether a PFC was used. A large number of items of history and examination of interest in poisonings were analyzed. The reproducibility of the findings recorded on the PFCs was measured in 20 patients. Findings initially recorded on the chart in the emergency department were compared with those recorded within the next 30 minutes by a second more experienced observer who did not have reference to the initial record. RESULTS: There were large and statistically significant differences in the completeness of recording of neurologic examination, such as pupil size (100% versus 68%), conjugate eye movements (97% versus 35%), deep tendon reflexes (97% versus 51%), and in the percentage that were reported as having abnormal signs, such as dilated pupils (26% versus 14%), nystagmus (12% versus 5%), and hyperreflexia (19% versus 8%). In all cases, more information was recorded when a PFC was used; however, the differences were small for items such as vital signs and drugs ingested. Agreement between 2 observers for history and examination was moderate to good, with items on history and level of consciousness generally recorded with greater agreement than other examination findings, perhaps reflecting fluctuations in these signs. CONCLUSION: Data collected prospectively with a PFC collects more information than can be obtained retrospectively from case records. In particular, the validity of data on clinical signs on presentation gained from retrospective chart review is questionable. Centers that are interested in collecting data on series of poisonings would benefit from using a PFC or some other systematic prospective method of data collection.

Emergency Service, Hospital↗
PubMedDate not supplied

[Juvenile amyotrophic lateral sclerosis. Apropos of a case].

INTRODUCTION: There are scanty reports on juvenile forms of amyotrophic lateral sclerosis, specially amyotrophic lateral sclerosis and deafness, and it is known as Madras pattern of motor neurone disease. CLINICAL CASE: We describe an sporadic case of juvenile amyotrophic lateral sclerosis with deafness in a young person who started with hearing loss at 21 years old, loss of strength in upper limbs and muscular atrophy. He was seen by a neurologist when he was 25 years old, there were evident generalized fasciculation activity in proximal and distal muscles in the four limbs and the tongue, with swallowing troubles, and increased tendon reflexes in lower limbs with abnormal plantar extensor responses. All the paraclinical test were normal, except the electromyogram, showing a classical pattern of lower motor neuron disease, and the auditory brain stem response with absence of the main components of this evoked response, as expression of VIII cranial nerve damage. DISCUSSION: Patients like this one were first described in Madras (India), and the evolution of this kind of juvenile form of amyotrophic lateral sclerosis is chronically progressive and relative benign, in relation to the classical form of amyotrophic lateral sclerosis and other forms of motor neurone disease which begin in childhood, adolescence or young adulthood. CONCLUSION: Its recognition is very important in order to diminish misleading therapies in these patients.

Adult↗
PubMedDate not supplied

[Late onset polyneuropathy due to exposure to organophosphates].

INTRODUCTION: Organophosphate esters are widely used both in agriculture and in industry and may give rise to acute intoxication due to their direct anticholinesterase effect. Less often a polyneuropathic syndrome of late onset may occur. This is predominantly motor, symmetrical, with muscle atrophy and pyramidal signs. These neurotoxic features are due to inhibition of the target esterase of this neuropathy. Histopathological studies show axon degeneration of 'dying back' type. CLINICAL CASE: We present the case of a 24 year old man with severe sensomotor neuropathy, predominantly distal, with marked atrophy of the interosseus muscles, claw hand and foot drop, together with increased deep tendon reflexes. This patient had worked on the land, cultivating maize, from the age of 14, when his symptoms began and became progressively worse. On electromyography there was sensomotor peripheral polyneuropathy, which was primarily axonal and predominantly motor and distal. Peripheral nerve biopsy confirmed the presence of 'dying back' type axonopathy. Extensive biochemical investigations ruled out other causes of polyneuropathy. Cerebral resonance study was normal. CONCLUSIONS: Agricultural workers chronically exposed to organophosphate insecticides, without adequate protection, have an increased risk of developing late onset neuropathy due to organophosphates. The risk of developing late onset neuropathy is not necessarily related to a history of acute intoxication, since chronic sublethal exposure may mean that previous acute anticholinergic symptoms pass undetected.

Acute Disease↗
PubMed1999

[A family of hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V) presenting with phenotypic uniformity including onset in early childhood].

The proband was a 38 year old mother, who had begun to walk abnormally at one year old. She developed weakness and wasting in the intrinsic hand muscles in the third decades. On neurological examinations, she showed weakness with atrophy in the distal muscles of the upper and lower limbs, mild impairment of deep sensation in the feet, and severe spastic gait with scissoring. Deep tendon reflexes were hypoactive in the arms and at the ankles, and brisk at the knees. Babinski sign was present bilaterally. Nerve conduction studies revealed mild slowing of conduction velocities and reduction of muscle and sensory action potential amplitudes. Sural nerve biopsy showed a prominent decrease in myelinated fiber density, especially in the large fibers. Neither demyelination nor typical onion-bulb was found. Results of gene analysis of PMP-22 was negative. Her two daughters, 14- and 11-year-old, respectively, also presented with gait disturbance from the beginning of walking at one year old and had almost the same clinical manifestations as their mother, indicating autosomal dominant inheritance. This family of the hereditary motor and sensory neuropathy with spastic paraplegia (HMSN type V) was distinctive in having phenotypic uniformity including onset in early childhood.

Adolescent↗
PubMed1999

[A 54-year-old man with action myoclonus, parkinsonism and epilepsy].

We describe 3-year clinical course of a 54-year-old Japanese man who presented with action myoclonus, parkinsonism and epilepsy. There was no family history or consanguinity. The patient was well until the age of 51 years (in 1986), when he noted slow movements, memory disturbance and left hand tremor. He was treated with anti-Parkinson drugs without any improvements. Soon thereafter, he developed a gait disturbance and generalized tonic clonic seizures. He was admitted to our service at the age of 53 years. General physical examination revealed no hepatosplenomegaly. Neurological examination showed mild dementia. Neither retinal pigmentation nor cherry red spot was noted. He was unable to walk due to marked frozen gait. His upward gaze was limited and saccadic eye movement was slow. He had action myoclonus in both upper extremities and resting tremor on the left side. He showed mild left hemiparesis. Deep tendon reflex was hyperactive in both side with extensor plantar responses. MRI demonstrated cortical atrophy, especially marked at the bilateral temporal lobes with a right side predominance. Leukocyte lysosomal enzyme activities of beta-hexosaminidase, beta-galactosidase and sialidase were within normal limits. The patient died of pneumonia on April 25, 1989. At the time of a neurological CPC, neurologists reached the clinical diagnosis of adult-type neuronal ceroid-lipofuscinosis. Postmortem examination revealed bilateral bronchopneumonia. The brain weighed 1,219 g and showed atrophy of the temporal lobes. Histological examination showed neuronal cells with swollen cytoplasm and lipofuscin-like granules throughout the CNS, including the cerebral cortex, thalamus, substantia nigra, motor nuclei of the brain stem, dentate nuclei, inferior olivary nuclei. Clarke's nuclei and anterior horn cells. Marked neuronal loss was noted in the right temporal lobe and substantia nigra. Electron micrographs of the frontal cortex revealed "fingerprint profiles" in the cytoplasm of neuronal and glial cells. Pathological findings were consistent with the diagnosis of adult-type neuronal ceroid-lipofuscinosis (Kufs' disease).

Brain↗
PubMed1999

[A case of congenital non-progressive cerebellar ataxia with pigmentary retinal degeneration, fiber type disproportion and hypercreatine kinasemia].

We report a 20-year-old female who presented with congenital non-progressive cerebellar ataxia, pigmentary retinal degeneration, fiber type disproportion, hypercreatine kinasemia and mental retardation. No family history of neuromuscular disorders was found. There was consanguinity between the grandfather and grandmother. Pregnancy and delivery were uneventful. Although neck control was obtained at three months old, she could walk at 23 months old. She had a tendency to tumble. Her mentality was retarded. At 12-years-old, she was diagnosed as having pigmentary retinal degeneration. When she visited to our hospital at 20-year-old, she had slight scoliosis. Neurological examination disclosed mental retardation, pigmentary retinal degeneration, gaze evoked nystagmus on horizontal gaze and proximal dominant muscle weakness. Tandem gait was unsteady. Deep tendon reflexes were slightly hyperactive in all four extremities. The serum creatine kinase was elevated to 2346U/l. Muscle biopsy revealed type I. fiber atrophy and predominance. This case is therefore considered to be cogenital non-progressive cerebellar ataxia presenting with fiber type disproportion, pigmentary retinal degeneration and hypercreatine kinasemia.

Adult↗
PubMed1999

[Therapeutic case of general paresis manifested by bradykinesia and recent memory loss].

We reported a 32-year-old man with general paresis. He showed slowly progressive bradykinesia and recent memory loss. Argyll Robertson pupils were not present. Muscle strength and sensations were normal except for slight vibratory disturbance. Tendon reflexes were slightly exaggerated. MMSE, HDS-R and WAIS-R scores showed the intellectual impairment. His laboratory investigations revealed elevated both TPHA and FTA-ABS titers in the serum and the CSF. The CSF contained leukocytosis (25/mm3) and protein 80 mg/dl. Cranial CT and MRI demonstrated diffuse cortical atrophy. SPECT revealed marked reduction of the blood flow in bilateral cerebral hemisphere. Cerebral angiography revealed moderate stenosis of the major vessels. The diagnosis of neurosyphilis (general paresis) was made and the treatment of intravenous benzyl penicillin potassium 24 million units per day was started. After 6 weeks of the treatment, the clinical signs (includes MMSE, HDS-R and WAIS-R scores) and the findings of SPECT and cerebral angiography showed improvement. Although the cell count and protein in the CSF became decreased, the titers of TPHA and FTA-ABS in the serum and the CSF were not decreased. Neurosyphilis should always be considered in a etiologically unknown case with bradykinesia and dementia.

Adult↗
PubMed1999

A three generations family with blepharo-naso-facial malformations suggestive of Pashayan syndrome.

Blepharo-naso-facial syndrome, described by Pashayan et al. (10), is characterized by telecanthus, lateral displacement and stenosis of lacrimal puncta, bulky nose, mask-like facies, trapezoïdal upper lip, torsion dystonia and mental retardation. We report on a family with this rare malformation syndrome, confirming the existence of this syndrome and its dominant inheritance. The proband had a fleshy nose, a prominant nose bridge, an hypoplastic midface, telecanthus with temporal displacement of puncta, lacrimal excretory obstruction. CNS torsion dystonia, increased deep tendon reflexes, Babinski reflexes, poor coordination and joint laxity. The proband's mother, brother and maternal grandfather also showed manifestations of the syndrome. The proband and his brother had delayed developmental milestones. Hearing impairment was present in the proband, his mother and his grandfather but was absent in the proband's brother. The blepharonasofacial syndrome was described by Pashayan et al. (10) in four members of one family, two male and one female sib and their mother. Two other sibs were unaffected. Many of the features of the blepharo-facio-nasal syndrome also occur in other well known syndromes i.e. Waardenburg syndrome. The pedigrees of the family of Pashayan et al. (10) and of our family are compatible with Mendelian dominant inheritance, either autosomal or X-linked. X-linked dominant inheritance cannot be ruled out except by male-to-male transmission, which does not occur in these families. Pashayan et al. (10) suggested that an autosomal gene with variable expressivity appears more likely. More families are needed for defining the transmission of the condition and for mapping the gene involved in the blepharo-naso-facial syndrome.

Abnormalities, Multiple↗
PubMed1999

[A case of Miller Fisher syndrome with gadolinium-enhancing lesions in the cranial nerves and the cauda equina on magnetic resonance imaging].

MRI findings for a patient with Miller Fisher syndrome (MFS) are reported. A 25-year-old woman presented with blephaloptosis, double vision, and gait disturbance after antecedent upper respiratory infection. Neurologic examination on admission revealed bilateral blephaloptosis and restriction of extraocular movement. She was unable to maintain an upright posture, nor able to walk because of severe truncal ataxia. Mild limb ataxia was also seen. The tendon reflexes were generally absent and she had hypesthesia in her shoulder and upper limbs. On the next day, her eyes became fixed in the central position. Based on these characteristic symptoms, she was diagnosed as having MFS and underwent plasmapheresis therapy six times. Although ataxia gradually reduced, ophthalmoplegia did not improve and severe symmetric facial nerve palsy appeared. Antiganglioside IgG antibodies (anti-GQ1b and GD1b) were detected in the sera on admission. Spinal fluid examination on day 18 revealed 5 cells/microliter and protein 171 mg/dl. T1-weighted images with Gd-DTPA on day 15 demonstrated enhancement of the posterior nerve roots of the cauda equina. MRI on day 32 revealed swelling and enhancement of the bilateral oculomotor nerves, as well as the facial nerves and the abducens nerves. Marked improvement of ophthalmoplegia followed high dose intravenous immunoglobulin therapy. Gd-enhanced MRI after recovery showed no enhancement of the cauda equina, nor the cranial nerves. These findings well correlated with her clinical features. Although abnormal Gd-enhancement of the cranial nerves or cauda equina in several neurological disorders has been documented, similar findings have been rarely reported in MFS. In our patient, IgG anti-GQ1b and GD1b antibodies were detected and the distribution of Gd-enhanced lesions was compatible with the distribution of the involved gangliosides. We suggest that contrast enhanced MRI is useful for identifying affected cranial nerves and cauda equina nerve roots. In addition, MRI may play a significant role in disclosing the pathophysiology of this disease.

Adult↗
PubMed2000

[A case of Wernicke-Korsakoff syndrome with dramatic improvement in consciousness immediately after intravenous infusion of thiamine].

A 68-year-old man was hospitalized on March 4, 1998 for disturbances in consciousness. In 1995, he had received proximal subtotal gastrectomy and reconstructive surgery of the jejunal interposition for gastric cancer. Thereafter he had been taking enough food without the habit of taking liquor. In October 1997, his short term memory was becoming gradually worse. On February 12, 1998, he suffered from numbness in the feet, and then dysphagia, unsteady gait, and diplopia developed gradually. On February 26, brain MRI showed no abnormalities. On March 3, he had a fever of 38.5 degrees C and his consciousness became unclear. Neurological examination revealed semi-coma, total ophthalmoplegia, and absence of doll's eye movement. Deep tendon reflexes were absent. The serum thiamine level was 9 ng/ml (normal range: 20-50). Brain MRI demonstrated symmetrical high intensity lesions in the periaqueductal area of the midbrain, dorsomedial nuclei of bilateral thalami, and vestibular nuclei. About 30 seconds after intravenous infusion of thiamine, his consciousness improved dramatically, but returned to semi-coma after about two minutes. Wernicke-Korsakoff syndrome usually occurs acutely. In the present case, however, the disease showed slow onset, chronic progression, and then rapid worsening after fever. Reconstructive surgery of the jejunal interposition might have caused the slow onset of Wernicke-Korsakoff syndrome, and fever might have facilitated the rapid progression of the disease. An immediate high concentration of thiamine modifies the kinetics of acetylcholine receptor ion channels, thereby maintaining wakefulness, and the level of consciousness may change dramatically.

Aged↗