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PubMed1995

Spinal tract degeneration confined to the bilateral posterior columns in malnutrition: report of an autopsy.

An autopsy case of malnutrition with spinal tract degeneration confined to the bilateral posterior columns is reported. The patient had schizophrenia in adolescence, and suffered from aplastic anemia in late middle age. Subsequently, he took little food due to delusions for 18 months until his death. He had malnutrition resulting in severe hypoproteinemia. He developed gait disturbance, loss of deep tendon reflexes and paresthesia of limbs. Neuropathological examination disclosed tract degeneration confined to the bilateral spinal posterior columns, in addition to the findings of aplastic anemia and hypoxic encephalopathy in the cerebrum. The myelin and axons were severely affected throughout the spinal cord; status spongiosus with many fatty-laden macrophages was seen in these lesions. Neurons in the posterior column nuclei were intact, while the dorsal roots and their ganglia were moderately affected. The unusual distribution and extension of the degeneration of the bilateral posterior columns in the poor nutritional state is discussed.

Anemia, Aplastic↗

PubMed1992

Spinal arachnoid cyst in a newborn infant.

A male infant was born with asphyxia following a prolonged breech delivery at 39 weeks of gestation. He had a chylohemothorax from birth. Soon after birth he exhibited flaccid paraplegia with an absence of deep tendon reflexes in the lower extremities. At 17 days of age, magnetic resonance imaging (MRI) disclosed a hypodense area in the thoracic cord between C7 and Th4 in T1-weighted images, and spinal sonography revealed an echo-free space compressing the spinal cord in the same region observed with MRI. A spinal cyst was removed surgically at 24 days of age. The cyst was confirmed by pathology to be a true arachnoid cyst between C7 and Th4. The cause of this cyst may have been a spinal cord injury during the perinatal period.

Arachnoid Cysts↗

PubMed1995

A boy with atrophic thyroiditis of prepubertal onset, who was positive for TSH-binding inhibitor immunoglobulins.

A 12 year old boy was admitted to our hospital because of short stature. From the age of 7, his growth velocity decreased and he manifested intolerance to low temperatures, hoarseness, dry skin, and slowness of thought and physical movement. On admission, his height was 129.8 cm (-3 s.d.) and his body weight was 43.2 kg (-0.5 s.d.). His clinical features also included relaxation phase of tendon reflexes, periorbital puffiness and cold skin but no struma. His bone age was 9 years. His serum thyroxine (T4), triiodothyronine (T3), free T4 and free T3 were low, while his thyrotropin was high. He was positive for antithyroglobulin antibodies, antimicrosomal antibodies, and TSH-binding inhibitor immunoglobulins. He was diagnosed as having atrophic thyroiditis. We also determined the HLA haplotypes of his family members. His father's HLA haplotypes were A2, BW61(a) and A24, BW52(b), while his mother's haplotypes were A24, BW52(c) and A30, BW60(d). The HLA haplotypes of both the patient and his younger brother showed a and d, while the patient's elder brother's HLA haplotypes showed b and c. His family members all had normal thyroid function, but his father was positive for antimicrosomal antibodies. In summary, we describe a rare case where the onset of hypothyroidism was prepubertal, where the pathogenesis may have involved TSH-receptor blocking antibodies, and where the inheritance of the disease may have been from the paternal side of the family.

Age of Onset↗

PubMed2004

Systematic genome-wide approach to positional candidate cloning for identification of novel human disease genes.

BACKGROUND: Recent large-scale genome projects afford a unique opportunity to identify many novel disease genes and thereby better understand the genetic basis of human disease. Functional Annotation of Mouse (FANTOM) 2, the largest mouse transcriptome project yet, provides a wealth of data on novel genes, splice variants and non-coding RNA, and provides a unique opportunity to identify novel human disease genes. AIMS: To demonstrate the power of combining the FANTOM 2 cDNA dataset with a positional candidate approach and bioinformatics analysis to identify genes underlying human genetic disease. RESULTS: By mapping all FANTOM 2 cDNA to the human genome, we were able to identify mouse clones that co-localised on the human genome with mapped but uncloned human disease loci. By this method we identified mouse and corresponding human genes mapping within the loci of 100 different human genetic diseases (mapped interval of <5 cM). Of particular interest was the elucidation through FANTOM 2 novel mouse gene data of candidate human genes for the following: (i) developmental -disorders: neural tube defect, Meckel syndrome, Wolf--Hirschhorn syndrome and keratosis follicularis spinulosa decalvans cum ophiasi; (ii) neurological disorders: benign familial infantile convulsions 3, early-onset cerebellar ataxia with retained tendon reflexes, infantile-onset spinocerebellar ataxia and vacuolar neuro-myopathy and (iii) cancer-related syndromes: tylosis with oesophageal cancer and low-grade B-cell chronic lymphatic leukaemia. CONCLUSIONS: The FANTOM 2 data will dramatically accelerate efforts to identify genes underlying human disease. It will also facilitate the creation of transgenic mouse models to help elucidate the function of potential human disease genes.

Animals↗

PubMed2006

Abdominal pain related to mitochondrial neurogastrointestinal encephalomyopathy syndrome may benefit from splanchnic nerve blockade.

Patients diagnosed with abdominal pain related to mitochondrial neurogastrointestinal encephalopathy (MNGIE) may benefit from splanchnic nerve blockade. MNGIE, varying in age of onset and rate of progression, is caused by loss of function mutation in thymidine phosphorylase gene. Gastrointestinal dysmotility, pseudo-obstruction and demyelinating sensorimotor peripheral neuropathy (stocking-glove sensory loss, absent tendon reflexes, distal limb weakness, and wasting) are the most prominent manifestations. Patients usually die in early adulthood (mean 37.6 years; range 26-58 years). We report a case of an 18-year-old patient with MNGIE. Our patient's abdominal pain was relieved after splanchnic nerve blockade.

Abdominal Pain↗

PubMed1991

Impact of late complications in type 2 diabetes in a Dutch population.

The prevalence of late complications was determined in four general practices in a representative group of 137 patients with Type 2 diabetes and a control group of 128 non-diabetic individuals. Retinopathy was found in 35% of all diabetic patients, with the same prevalence below and above the age of 70 years. Microalbuminuria was found in 42% of diabetic patients and in 22% of the control group (p less than 0.001). Above 70 years of age microalbuminuria was found with increasing frequency in the control group and was not significantly higher in the diabetes group. Serum creatinine was the same in the diabetic patients and the control group. Peripheral neuropathy was found frequently in the diabetes group, but was not uncommon in the control group (abnormal temperature sensation 63 vs 49% (p less than 0.05), abnormal vibration perception 53 vs 33% (p less than 0.001), absent tendon reflex 62 vs 21% (p less than 0.001]. Above age 70 years there was again a reduction in the difference in prevalence of neuropathy between the diabetes and control groups. Ischaemic heart disease was found more frequently in the diabetes group, but only below 70 years of age (32% of diabetic patients and 14% of the control group with ischaemic changes on ECG (p less than 0.01]. Above that age 46% of the diabetes group and 45% of the control group had ECG signs of ischaemic heart disease.

Aged↗

PubMed2004

The value of the Rydel-Seiffer tuning fork as a predictor of diabetic polyneuropathy compared with a neurothesiometer.

AIMS: The aim of the study was to investigate the predictive value of the Rydel-Seiffer tuning fork for detecting diabetic neuropathy and to compare it with an electronic neurothesiometer. METHODS: In 2022 consecutive diabetic subjects, peripheral polyneuropathy was diagnosed by vibration perception threshold (VPT) at the tip of both great toes using a 128-Hz tuning fork and a neurothesiometer, by simple bedside tests and by the presence of neuropathic symptoms. These evaluations were further combined to diagnose peripheral nerve dysfunction (abnormal bedside tests) and symptomatic neuropathy. VPT was also measured in 175 non-diabetic control subjects to define normal values. RESULTS: VPT was normal in 1917 subjects and abnormal in 105 (5.2%) patients when measured by the tuning fork. Patients with an abnormal vibration test were significantly (P < 0.0001) older than subjects with a normal vibration sense, while diabetes duration and HbA(1c) of the former were also significantly elevated. The same was true for the percentages of an abnormal 10-g monofilament test (66.7% vs. 7.2%, P < 0.0001) and a missing Achilles' tendon reflex (68.6% vs. 24.8%, P < 0.0001). Finally, the VPT measured by the neurothesiometer was 2.5 times higher in patients with an abnormal tuning fork test (32.0 +/- 9.8 vs. 12.5 +/- 6.4 V, P < 0.0001). The plot of the difference of both methods against their mean yielded a good agreement of the two VPT measurements, and the tuning fork had a high sensitivity and positive predictive value for the diagnosis of abnormal bedside tests and for symptomatic neuropathy. CONCLUSION: The tuning fork reliably detected peripheral neuropathy in comparison with the neurothesiometer. A tuning fork is a useful screening test for diabetic neuropathy.

Age Factors↗

PubMed2005

Ross syndrome, an entity included within the spectrum of partial disautonomic syndromes.

Ross syndrome is a degenerative peripheral nervous system disorder defined by the following triad: unilateral or bilateral segmental anhidrosis, hyporeflexia of deep tendon reflexes and Adie's tonic pupils. The most disturbing symptom is segmental compensatory hyperhidrosis. It has only occasionally been reported in the dermatological literature. We present a 35-year-old woman with chronic hepatitis C who developed the characteristic triad of Ross syndrome within 1 month. The patient was otherwise healthy except for an aneurysm of the left medium brain artery not responsible for the syndrome.

Adult↗

PubMedDate not supplied

Lafora's disease in south India: a clinical, electrophysiologic, and pathologic study.

Twenty-one cases (12 males, 9 females) of Lafora's disease in 16 families were studied at the National Institute of Mental Health and Neuro Sciences (NIMHANS), Bangalore, India, from 1982 to 1990. Mean age of onset was 13.5 years (range 9.5-18 years). First symptom was generalized tonic-clonic seizure (17), myoclonus (3), or dementia (1). All patients eventually developed the classical triad, except 1 who has had only myoclonus. Seven had occipital seizures. Other signs included behavioral changes (9), brisk tendon reflexes (11), cerebellar signs (8), and visual impairment (4). Patients from 14 of the 16 families (85%) were products of consanguineous marriage. More than 1 sibling was affected in 6 families. Scalp EEGs showed diffuse background slowing with epileptiform discharges in all and progressive slowing as the disease progressed in 3. Photosensitivity occurred in 4 of the 17 cases studied (23.5%). EEG abnormalities were documented in the presymptomatic stage in 2 cases 6 months and 6 years before clinical symptom onset. Visual evoked responses were abnormal in 4 of the 6 cases studied. Giant somatosensory evoked potentials (SSEP) were observed in all 8 cases studied. Lafora bodies were demonstrated in axillary skin in 14 of 17 (82.4%), in liver in 4 of 10 (40%), and in both brain biopsy specimens. In 2 cases, liver biopsy was positive while axillary skin biopsy was negative. In the brain, inclusions were evident in glial and capillary endothelial cells in addition to neurons. Although our cases were similar to those described earlier, the relative rarity of visual phenomena is emphasized. The clinical pattern was consistent with autosomal recessive inheritance. The high frequency of consanguinity in the South Indian population may be responsible for the many cases observed at our center.

Adolescent↗

PubMed1999

Extremely acute phenytoin-induced peripheral neuropathy.

PURPOSE: Peripheral neuropathy is a rare adverse effect associated with phenytoin (PHT), and it usually occurs after the prolonged use of PHT. Acute PHT-induced peripheral neuropathy is extremely rare. METHODS: An 18-year-old girl was admitted for the control of epilepsy. Just a few hours after the administration of PHT, she complained of distal lower-extremity paresthesia in a stocking distribution and motor weakness: the Achilles tendon reflex was absent. RESULTS: Electrophysiological studies revealed slightly reduced sensory-conduction velocity and mild prolongation of distal latency in the lower extremities. After the discontinuation of PHT, these symptoms disappeared gradually, and sensory-conduction velocity and distal latency became normal. CONCLUSIONS: Although it has been reported that peripheral neuropathy occurred after treatment with PHT for a week, there has been no report of a patient such as ours, who developed peripheral neuropathy just a few hours after the initial administration of PHT. The underlying mechanism remains unknown; however, we should pay attention to such extremely acute peripheral neuropathy when using PHT.

Acute Disease↗

PubMed1975

Effect of dantrolene sodium on spasticity associated with hemiplegia.

The effects of dantrolene sodium (Dantrium) were studied in 23 patients with hemiplegic spasticity, 13 of whom were younger than 50, and 10 older than 50. The dosage of dantrolene ranged from 100 mg per day initially to 600 mg per day maximally. The drug was most effective in reducing or abolishing clonus and somewhat less efficacious in decreasing the resistance to stretch and the tendon reflexes. Functionally, gait was improved and the patients found it easier to take care of their personal needs. In general, motor performance was improved. The observation that patients in the 50+ age group responded less well remains unexplained. Dantrolene sodium is a valuable tool in the management of spasticity due to hemiplegia.

Adult↗

PubMed1984

Botulism in the elderly.

Two cases of type A botulism in elderly patients are presented, followed by an overview of the disease. Typical features demonstrated by these patients included home food preservation, multiple cases, and early GI tract symptoms followed by diplopia, ptosis, generalized weakness, and respiratory impairment while sensation and deep tendon reflexes remained intact. Fatal outcomes are more likely in the elderly. The CDC should be contacted early in cases of suspected botulism.

Aged↗

PubMed1983

Chorea-acanthocytosis. Neurological disease with acanthocytosis.

A case of chorea-acanthocytosis (CA) syndrome is described. CA is a rare, inherited syndrome characterized by normolipoproteinemic acanthocytosis and progressive neurological disturbances (orofacial dyskinesia, limb chorea, lip and tongue biting, distal muscle wasting, muscle hypotonia, absent or diminished tendon reflexes) with adult onset. Thus far, 10 independent reports of CA have been published. The present case is the first patient reported in Europe outside Great Britain. Due to obvious clinical similarities between CA and Huntington's chorea, particular attention is drawn to the differential diagnosis between these 2 syndromes. Investigation of the red blood cell morphology should necessarily be performed in the examination of choreic patients, particularly when the disorder is familial.

Abetalipoproteinemia↗

PubMed1984

Neurotoxic and other side effects of high-dose interferon in amyotrophic lateral sclerosis.

6 patients with amyotrophic lateral sclerosis were treated with intravenous infusion of 100-200 million IU per day of human leukocyte interferon. Side effects of treatment included fever, chills, malaise, nausea, marked leukopenia, mild anemia, and thrombocytopenia. Tiredness, confusion, papilledema, and overall signs of acute encephalitis were observed. Tendon reflexes and muscle force decreased. EEG activity was slowed, and evoked potentials showed significant slowing of conduction times. Neuropsychological tests revealed congitive dysfunction. The syndrome of inappropriate antidiuretic hormone secretion developed in all patients. All side effects were reversible with cessation of interferon treatment.

Adult↗

PubMed1984

The clinical effect of the GABA-agonist, progabide, on spasticity.

In a double-blind cross-over trial of two 2-week periods, the clinical effect of progabide was compared to placebo. 16 patients with spasticity in a stationary phase completed the trial. 14 had multiple sclerosis, 2 hereditary spastic paraplegia. 5 were female and 11 male. The median age was 45.5 years (range 30-62 years). The median daily dosage of progabide was 24.3 mg/kg (range 14.3-32.7 mg/kg). During progabide treatment, there was a reduction in spastic hypertonia (P less than 0.01), a suppression of tendon reflexes (patellar) (P less than 0.01), and a reduction in the frequency of flexor spasms (P less than 0.05). No significant changes in voluntary power were registered. The global clinical impression revealed a therapeutic effect in 87% of the patients (95% confidence limits 61-98%). The improvement was judged as medium or important in 50% of the patients (95% confidence limits 23-77%). No side-effects or laboratory abnormalities were seen.

Adult↗

PubMed1985

Thermal sensitivity in uremic neuropathy.

Clinical neurological examination, nerve conduction velocity measurements, and quantitative tests of thermal and vibratory sensitivity were performed in 64 non-diabetic uremic patients, who were all treated with chronic maintenance dialysis. Clinical or neurographic signs of neuropathy were found in 83% of the patients. The most common abnormalities were reduced nerve conduction velocity, increased vibratory perception threshold, loss of tendon reflexes, and impaired temperature sensibility. Hypesthesia to pinprick or touch, or paresis were rarely found and none of them was ever the first sign of neuropathy. Thermal sensation was abnormal in 30% of the patients, which is a much higher prevalence than that which has previously been reported. There were no significant correlations between measures of thermal sensation and measures of large fibre dysfunction. Impaired thermal discrimination was the first sign of neuropathy in 15% of the patients. This indicates that a small fibre uremic neuropathy may exist as a separate entity.

Adult↗

PubMed1986

Symptoms and signs of polyneuropathy and their relation to alcohol intake in a normal male population.

In a normal population of 468 45-year-old males symptoms and signs of polyneuropathy were investigated and related to self-reported alcohol consumption and associated problems. Sensory disturbances in the feet were claimed by 3.4%, 5.8% had abolished Achilles tendon reflexes, and 7.7% increased vibratory perception thresholds. Significant correlations were found between persons with signs of neuropathy and persons with physical or social consequences of alcohol abuse.

Alcohol Drinking↗

PubMed1987

Vaccine-associated contact paralytic poliomyelitis with atypical neurological presentation.

Paralytic poliomyelitis presenting with quadriparesis, transient encephalitis and bulbar symptoms in 2 patients in close contact with recently vaccinated children with trivalent live oral polio vaccine is described. Symmetrical lower motor neuron involvement of deltoid muscles with electromyographic confirmation was found. Upper motor neuron signs, with symmetrical hyperactive deep tendon reflexes developed in the lower extremities. Poliovirus Type-2 vaccine-like strain was cultured from one patient and both patients showed significant antibody titers rises to poliovirus. Attention is drawn to the possible clinical differences between vaccine associated poliomelitis and the usual features found in wild strain poliomyelitis. It is suggested that in selected cases, non-immunized contacts be given inactivated polio-vaccine when the vaccinees are immunized with the live oral-vaccine.

Adult↗