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At least 1,063 records · Page 59Linked to original sources
PubMed1999

Gestational thyrotoxicosis with acute Wernicke encephalopathy: a case report.

A 35-year-old hyperthyroid woman who developed nausea, vomiting, tachycardia, nystagmus and mental disturbance, was referred to our hospital with a suspected diagnosis of thyroid storm. However, the thyroid gland was only slightly palpable, bruits were not audible, and exophthalmos was not present. Serum levels of thyroid hormone were increased, but TSH receptor antibodies were negative. Echography and color flow doppler ultrasonography revealed a slightly enlarged thyroid gland and a slightly increased blood flow, both of which were much less milder than those expected for severe hyperthyroid Graves' disease. Under the diagnosis of hyperthyroidism due to gestational thyrotoxicosis associated with Wernicke encephalopathy, vitamin B1 was administered on the first day of admission. Her consciousness became nearly normal on the second day except for slight amnesia. Her right abducent nerve palsy rapidly improved, but horizontal and vertical nystagmus, diminished deep tendon reflexes and gait ataxia improved only gradually. MRI findings of the brain were compatible with acute Wernicke encephalopathy. We concluded that history taking and physical findings are important to make a differential diagnosis of gestational thyrotoxicosis with acute Wernicke encephalopathy from Graves' thyroid storm, and that Wernicke encephalopathy should be treated as soon as possible to improve the prognosis.

Acute Disease↗
PubMed2001

Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses.

We report a case of congenital hypomyelination neuropathy presenting at birth. The infant had generalized hypotonia and weakness. There was decreased respiratory effort along with a right phrenic nerve and left vocal cord paralyses. Tongue fasciculations were present. Deep tendon reflexes were absent in the upper extremities and hypoactive (1+) in the lower extremities. Magnetic resonance imaging of the head revealed no intracranial abnormalities, including normal cerebral myelination. Nerve conduction study showed absence of motor and sensory action potentials in the hands when the nerves in the upper limbs were stimulated. A motor response could be elicited only in the proximal leg muscles. Needle electromyography study was normal in the proximal limb muscles, but showed active denervation in the distal muscles of the arm and leg. These findings were thought to be consistent with a length-dependent sensorimotor peripheral polyneuropathy of axonal type with greater denervation of the distal muscles. A biopsy of the quadriceps muscle showed mild variability in fiber diameter, but no group typing or group atrophy. The muscle fibers showed no intrinsic abnormalities. Biopsy of the sural nerve showed scattered axons with very thin myelin sheaths. There was also a nearly complete loss of large diameter myelinated fibers. No onion bulb formations were noted. These findings were thought to be consistent with congenital hypomyelination neuropathy with a component of axonopathy. DNA analysis for identification of previously characterized mutations in the genes MPZ, PMP22, and EGR2 was negative. Several attempts at extubation failed and the infant became increasingly ventilator-dependent with increasing episodes of desaturation and hypercapnea. He also developed increasing weakness and decreased movement of all extremities. He underwent surgery at 2 months of age for placement of a gastrostomy tube and a tracheostomy. He was discharged from the hospital on a ventilator at 6 months of age. The infant was 13 months old at the time of submission of this report. Although he appears cognitively normal, he remains profoundly hypotonic and is on a home ventilator. There was no evidence of progressive weakness. Congenital hypomyelination neuropathy is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. It appears to be a heterogeneous disorder with some of the cases being caused by specific genetic mutations.

Demyelinating Diseases↗
PubMed2002

Chiari I malformation in the very young child: the spectrum of presentations and experience in 31 children under age 6 years.

INTRODUCTION: The entity of hindbrain herniation without myelodysplasia in the very young child has been poorly described. A retrospective analysis of children diagnosed with Chiari I malformation (CM I) before their sixth birthday is presented. METHODS: Since 1985, 31 children with CM I (0.3-5.8) years of age have been diagnosed at University of Iowa Hospitals and Clinics. Their records were reviewed for presenting symptoms, signs, radiographic findings, treatment, complications, and outcome. RESULTS: The average age at diagnosis was 3.3 years. Sixteen patients were under age 3. Chief presenting complaints included impaired oropharyngeal function (35%), scoliosis (23%), headache or neck pain (23%), sensory disturbance (6%), weakness (3%), and other (10%). Sixty-nine percent of children under age 3 had abnormal oropharyngeal function. Three patients under age 3 (19%) had undergone fundoplication and/or gastrostomy before diagnosis of CM I. Common physical findings included abnormal tendon reflexes (68%), scoliosis (26%), abnormal gag reflex (13%), and normal examination (13%). Vocal cord dysfunction (26%, all under age 3) and syringohydromyelia (52%) were also seen. Twenty-five patients were treated surgically at our institution with posterior fossa decompression, duraplasty, and cerebellar tonsillar shrinkage. Three patients were lost to follow-up. Ninety-one percent of patients reported improved symptomatology at last follow-up (mean: 3.9 years). Three patients required reoperation for recurrence of symptoms. Syringomyelia improved in all patients. Scoliosis resolved in 2 of 8 patients, improved in 5, and stabilized in 1. There was no permanent morbidity from surgery. DISCUSSION: We show that children with Chiari I abnormality are very likely to present with oropharyngeal dysfunction if under age 3, and either scoliosis or headache or neck pain worsened by valsalva if age 3 to 5. These symptoms are very likely to improve after Chiari decompression, which can be done with low morbidity. CONCLUSIONS: Very young children presenting with oropharyngeal dysfunction, pain worsened by valsalva, or scoliosis should prompt the clinician to consider CM I as a possible cause.

Arnold-Chiari Malformation↗
PubMed2003

Opisthotonic posturing with neuromuscular irritability attributable to 4-aminopyridine ingestion by a healthy pediatric patient.

INTRODUCTION: 4-Aminopyridine (4-AP) is a potassium channel blocker used to increase muscle strength in the treatment of demyelinating diseases such as multiple sclerosis. We describe a case of ingestion by an 8-month-old child that resulted in severe but transient symptoms. CASE REPORT: An 8-month-old boy was found with greenish saliva, and a capsule with green 4-AP powder was missing. On arrival to an emergency department, he was jittery, tachycardic, and tachypneic. Activated charcoal, a cathartic, and midazolam (0.5 mg/kg) were administered before transfer to a tertiary pediatric hospital. On arrival, the infant remained tachycardic and tachypneic. His eyes deviated upward and he was noted to have 3+ deep tendon reflexes bilaterally. He was administered 0.9% normal saline (20 mL/kg) for a wide pulse pressure with low diastolic blood pressure. The patient developed dramatic opisthotonic posturing and vermiform tongue fasciculations. The symptoms responded well to repeated intravenous doses of benzodiazepines. In this case, we used 2 doses of lorazepam (0.05 mg/kg each). During opisthotonic posturing, an electroencephalogram performed in the intensive care unit revealed no evidence of seizure activity. Within 20 hours after admission, the patient became asymptomatic. CONCLUSION: This case is, to our knowledge, the first documented pediatric 4-AP ingestion. Clinical signs and symptoms are described as well as the response to therapy with benzodiazepines. The electroencephalogram performed while the patient was symptomatic was negative for seizures.

4-Aminopyridine↗
PubMed1980

[Metachromatic leukodystrophy: report of 2 cases with histochemistry of nerves and muscles].

Two cases of metachromatic leukodystrophy, of the late infantile form are reported. The patients were a girl and a boy of 2 years 10 months old, with initial normal development, but by the age of 18 months began with gait disturbances, difficulty to speak and developed progressive mental deterioration, with signs of long tract involvement, absence of deep tendon reflexes, spasticity, blindness, muscle atrophy and finished in a vegetative state. The diagnosis was made electromyography (signs of denervation), motor nerve conduction velocity (very decreased), assay of arylsulfatase A in the urine (absence of activity), sural nerve biopsy (demyelination and presence of metachromatic granules by the cresyl-violet and toluidine blue) and muscle biopsy (atrophy of type I fibers and presence of metachromatic material in the intramuscular nerve fibers). A quick revision about diagnostic methods, transmission, pathogenesis and variant forms is made.

Cerebroside-Sulfatase↗
PubMed1984

[Acute atypical polyneuropathy in chronic Chagas' disease: report of a case].

The author reports the case of a 47-year-old man who developed an acute polyneuritis in the course of the chronic Chagas' disease. Neurological examination on admission forty-five days after onset showed total ptosis of the left eyelid without internal and external ophthalmoplegia. There was moderate diffuse weakness in the limbs. Tendon reflexes were depressed. Plantar responses were normal. The cerebrospinal fluid cell count and protein level were raised. The relationship between chronic Chagas' disease and peripheral polyneuritis is discussed.

Acute Disease↗
PubMed1984

[Neurological pathology in the newborn infant].

The purpose of this work was to review the literature about the newborn neurological pathology and to compare it with our results starting from the observation of 650 children who born at the Clinical Hospital of Porto Alegre from September 1979 to June 1980. Out of these, 100 presented with neonatal neurological pathology. These newborn were studied as to the age of the mother at the birth time, Apgar rate, weight and cephalic perimeter at the birth time, probable etiologies, and clinical picture and evolution. These newborn were compared to control groups and the results were discussed on the grounds of literature. Out of 100 newborn with neurological pathology, 65% presented with pathological neurological examination and 35% with normal neurological examination. The 65 newborn with pathological neurological examination had hypotonia, decreased deep tendon reflexes, decreased or absence of superficial reflexes in 40 cases. Hyperactivity, hypertonia and tremors were observed in 25 cases. Coma was present in 6 of these newborn with apathy and hypotonia. Seizures were present in 41 cases. EEG was performed in 29 of these 41 cases in the first five days of life. The EEG was normal in 15 (51.7%) newborn and it was pathologic in 14 (48.3%) newborn. The 100 newborn had the following diagnosis: 37 birth anoxia, 13 hemorrhages, 24 meningitis, 14 metabolic seizures, 4 sepsis, 1 kernicterus, 2 chromosomopathies, 3 malformation, 1 cerebral palsy, and 1 congenital rubeola. Out of the 37 newborn with birth anoxia, 20 (54.1%) had a good evolution, 7 (18.9%) had sequela and 10 (27.0%) died. Out of 13 newborn with hemorrhages 2 (15.4%) had a good evolution, 5 (38.5%) had sequela, and 6 (46.1%) died. Out of 24 newborn with meningitis, 18 (75.0%) had a good evolution, 5 (20.8%) had sequela, and 1 (4.2%) died. Out of 58 newborn with a good evolution, 30 had normal newborn neurological exam, and 28 had transient alterations. Out of 23 newborn who presented with sequela later on, only 5 had normal newborn neurological exam. All the 19 who died, had pathological newborn neurological exam.

Adolescent↗
PubMed1989

Chronic recurrent Guillain-Barré syndrome: report of 3 cases.

The classical Guillain-Barré syndrome is an acute or subacute polyradiculo-neuropathy whose main clinical features are progressive weakness of the limbs, decrease or absence of tendon reflexes, and sensory changes. Although in most of the cases there is complete recovery in weeks or months, some patients have a slow and progressive relapsing course and present thickening of the peripheral nerves. In this paper we describe three cases of the chronic and relapsing variety of Guillain-Barré syndrome, two of which had prominent hypertrophic changes in the peripheral nerves with onion bulb formations. The clinical and pathological features of this disease are reviewed. The three patients improved with the use of steroids.

Aged↗
PubMed1989

[Hypoglycemic polyneuropathy: report of a case with insulinoma].

A case of a young man who presented symptoms and clinical signs of polyneuropathy that occurred in connection with recurrent hypoglycemic episodes is reported. The hypoglycemia was probably caused by a pancreatic islet tumor. There were symmetric weakness and wasting of hands and feet, absent tendon reflexes and 'glove and stocking' loss of sensation. Electromyographic studies showed denervation potentials with slight reduction of nerve conduction velocities. Sural nerve biopsy studied by optic and electronic microscopy showed axonal degeneration without signs of demyelination or remyelination. There are only 30 similar cases reported in the literature. According to experimental findings, the authors believe that glucopenia is the mechanism responsible for the development of the neuropathy, and that at present time there is no evidence for a direct insulin effect.

Adenoma, Islet Cell↗
PubMed1991

[Congenital muscular dystrophy: clinical study of 17 patients].

We concur with the idea that congenital muscular dystrophy (CMD) is a distinct clinical entity, and report 17 patients (2 negroes and 15 whites; 12 M and 5 F; median age 6 years, range 1 to 24 years) with genetic, clinical, laboratorial, electrophysiological and histochemical studies. All our cases have an inheritance compatible with an autosomal recessive pattern. A decrease in fetal movements was reported by 57% of the mothers, generalized hypotonia at birth was present in 82%, limb girdle and neck weakness, absent or decreased deep tendon reflexes, and limb contractures were present in all. Severe muscular wasting was found in 41%. Calf pseudo-hypertrophy was observed in one patient. A patient was severely mentally retarded and another was borderline. During a 30-month follow-up, the muscle weakness of the majority remained essentially unchanged but the degree of motor activity deteriorated and was proportional to the worsening of the limb contractures. Serum CK levels were normal or increased to a maximum of 8 times. The electromyogram was myopathic in 74%, neurogenic in 13% and normal in 13%. CT scans showed a symmetrical white matter hypodensity in the hemispheres in 8 cases. All but 5 patients were operated upon to release the limb contractures and all were submitted to physical therapy. The contractures recurred in 4 patients submitted to surgery and were probably related to the cessation of physical therapy.

Adolescent↗
PubMed1992

[Parkinsonism secondary to ethylene oxide exposure: case report].

Ethylene oxide is a gas widely used in the production of industrial chemicals. It is also used to sterilize heat-sensitive medical supplies. Previous reports of acute and chronic exposure have described neurotoxic effects like peripheral neuropathy and cognitive impairment. We describe a pure parkinsonian syndrome following acute ethylene oxide intoxication. A 39-years-old male was referred to our Movement Disorders Clinic for evaluation of a parkinsonian syndrome. He was acutely exposed to ethylene oxide four years before and remained comatose for three days, and gradually regained consciousness. At that time he showed a global parkinsonian syndrome including bradykinesia, rigidity and rest tremor, with a severe motor disability; no other neurological disorders were found. The symptomatology was partially controlled with biperidene and levodopa plus carbidopa. Two years later he developed L-dopa induced dyskinesias. Four years after the intoxication he was evaluated at our clinic. General examination showed no abnormalities. Neurologic examination revealed a normal mental status. Motor evaluation disclosed moderate bradykinesia, rigidity and rest tremor, shuffling gait, poor facial mimic, stooped posture, and his speech was low and monotonous; deep tendon reflexes were brisk. The Hoehn-Yahr disability score was degree IV. Routine laboratory and radiological exams showed results within normal limits. The CSF examination was normal. Brain computed tomography and magnetic ressonance were normal. A trial with bromocriptine and levodopa plus carbidopa did not improve dyskinesia, and he was put on a schedule including amantadine and biperidene with improvement to grade III in Hoehn-Yahr scale. In the present case there was a clear relation between the acute exogenous intoxication and irreversible parkinsonism.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1994

Familial dysautonomia (Riley-Day syndrome).

Familial dysautonomia, also known as Riley-Day syndrome, is a disorder of autonomic nervous system with an autosomal recessive mode of inheritance. Reduction and/or loss of unmyelinated and small myelinated fibers is found, as reduction of dopamine beta-hydroxylase in blood. The diagnosis is based on clinical features: diminished lacrimation, insensitivity to pain, poor temperature control, abolished deep tendon reflexes, postural hypotension, vomiting attacks, poor motor coordination, and mental retardation. The treatment is symptomatic and many children die during the first years of life, usually as a result of repeated aspiration pneumonia. We report the case of a 1 year-old child with familial dysautonomia.

Dopamine beta-Hydroxylase↗
PubMed1995

[Charcot-Marie-Tooth disease. Clinical study in 45 patients].

Charcot-Marie-Tooth (CMT) disease is the commonest inherited peripheral neuropathy. The clinical study of 45 patients with CMT is presented. They were derived from Antonio Pedro Hospital of Universidade Federal Fluminense in Niteroi, RJ, Brazil. Such patients could be divided by the motor conduction velocity in two types: a demyelinating form or type I (11 cases) and an axonal form or type II (34 cases). The disease was inherited as an autosomal dominant trait in 23 patients and as an autosomal recessive trait in 7 cases. In 15 patients the disorder was sporadic. The age of onset was in most of our cases before the 20 years. All of them had distal weakness in lower limbs. 38.2% had also distal weakness in upper limbs. 80% had distal wasting of the lower limbs and 50% had distal wasting of upper limbs. The tendon reflexes were absent in 64% in lower limbs and in 28% in upper limbs. The sensitive impairment in the distal regions of the extremities was mild in most patients. We found enlargement of peripheral nerves in 7 patients of type I. Pes cavus was present in 21 cases and scoliosis in 7. We found postural tremor of hands in 6 patients. In 9 cases there were rare features as mental retardation, trigeminal nevralgia, optic atrophy, deafness and calf enlargement. In most of our cases the clinical course was very slow progressive. A greater severity was seen in our sporadic cases.

Adolescent↗
PubMed1996

Shock of birth. Evaluation of neurologic status of term newborn in the first 48 hours of life.

The shock of birth is a transient depression of muscle tone and deep tendon reflexes seen in newborn babies shortly after birth. We evaluated the shock of birth in a sample of 313 consecutive term newborns at 4, 24 and 48 hours of life. We correlated neurologic findings on examination with maternal, obstetric and perinatal data. Special attention was given to the relationship between the mode of delivery and shock of birth. Of the maternal data, factors associated with the shock of birth were obstetric gestational age, previous gestations, abortion or previous vaginal deliveries. Presence of stained amniotic fluid at birth was associated with the shock of birth. There was also a correlation between shock of birth and newborn sex, birth weight, thoracic circumference and the Battaglia and Lubchenco classification. The shock of birth lasted less than 24 hours in 70% of the newborns and less than 48 hours in 84.3%. We conclude that the mode of delivery, vaginal or cesarean section, did not influence the shock of birth. We also established the duration and factors associated with this phenomenon.

Adolescent↗
PubMed1997

[Chronic inflammatory demyelinating polyradiculoneuropathy. Study of 18 cases].

This is a prospective study that describes 18 patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), idiopathic type. The patients have been followed for a period of 4 to 127 months. We evaluated the clinical characteristics, the evolution, and therapeutic response. Male patients outnumbered female patients in a proportion of 1.25:1. Symptoms first appeared at an age ranging from 6 to 85. Most of the patients denied the occurrence of preceding events and a progressive evolution prevailed over relapsing evolution. All patients had both motor and sensory dysfunction associated with loss of tendon reflexes, and only three patients (16.7%) had cranial nerve involvement. The cerebrospinal fluid protein levels were increased in 88.9% of the patients and mean level was 203.4 mg/dl. Electrophysiological studies revealed demyelination in all patients and axonal damage in 94.4%. Preponderant characteristics in the sural nerve biopsy of seven patients showed demyelination and remyelination, and changes indicative of axonal damage were often present. The anti-HLA Dr antibodies were found in the sural nerve of one patient and anti-CD3 antibodies in the sural nerve of two. All patients were first treated with prednisone. The drug was maintained in reduced doses and given in alternate days to 72.2% of the patients with success. Two patients (11.1%) are asymptomatic even after the withdrawal of all medication. We administered azathioprine, associated or not with corticoid, to the four patients who had not had a satisfactory response to the prednisone treatment. By the time of the last evaluation 16 patients (88.9%) had functional improvement.

Adult↗
PubMed1998

[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study].

Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X chromosome (Xq 11-12) with expanded CAG triplets (more than 347 repeats). We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in the carrier asymptomatic woman. This is the first Brazilian family with genetic molecular diagnosis of Kennedy's disease. This disease must be included in the differential diagnosis of motor neuron disease since it has a distinct prognosis and genetic counseling is mandatory to the carriers.

Diagnosis, Differential↗
PubMed1999

[Infantile neuroaxonal dystrophy: report of 2 cases].

We describe two cases of infantile neuroaxonal dystrophy, which is a rare, neurodegenerative disease, with autosomal recessive inheritance. The first case was an 8 year old boy, with arrested motor and mental development, ataxia and muscle weakness. On physical examination there was horizontal and vertical nystagmus, optic disc atrophy, hypotonia; deep tendon reflexes were absent. The second case was a 1.6 year old boy with arrested motor and mental development, and seizures. On physical examination there was optic atrophy, hypertonia and hyperreflexia. Both patients had on sural nerve biopsy neuronal enlargement, consistent with neuroaxonal dystrophy. Diagnosis without pathological confirmation with neuroaxonal spheroids is very difficult, because the clinical picture is variable and the neurophysiological findings are non specific.

Biopsy↗
PubMed2003

[Distal myasthenia gravis: case report].

We report the case of a 30-year-old woman with a 7-year history of distal lower limbs weakness that evolved to upper limbs weakness. On neurological examination, she presented normal cranial nerves, bilateral quadriceps and feet interosseous atrophy, normal muscular tonus, muscular weakness more severe in dorsal feet interosseous and anterior tibial, and decreased deep tendon reflexes. Repetitive nerve stimulation of the ulnar and fibular nerves showed a decrement greater than 10% of the compound muscle action potential. Antibody against acetylcholine receptor titer was positive. Computed tomography scan of the thorax was normal. Thyroid function tests showed evidence of hyperthyroidism. Distal muscular weakness is a rare onset presentation of myasthenia gravis. However, myasthenia gravis must be considered in the differential diagnosis of distal limb weakness.

Adult↗