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PubMed1983

Congenital autonomic dysfunction with universal pain loss.

Three patients who appear to have a previously undescribed congenital neuropathy are described. None is of Ashkenazi Jewish extraction, but each seems to fulfill the clinical diagnostic criteria for familial dysautonomia. All lack overflow tears, fungiform papillae, and deep-tendon reflexes; intradermal administration of histamine did not produce an axon flare. Intraocular instillation of dilute mecholyl produced miosis in the one patient tested. In contrast to patients with familial dysautonomia, the three patients had universal loss of pain sensation, profound hypotonia, and unusual facies. Pathologic examination of the sural nerve in one patient was not consistent with the usual findings in familial dysautonomia. These patients are believed to have a previously undescribed congenital neuropathy.

Child, Preschool↗
PubMed1988

Effect of vitamin E deficiency on neurologic function in patients with cystic fibrosis.

We evaluated neurologic function in 18 patients, ages 5 to 26 years, with cystic fibrosis. Eight were deficient in vitamin E. Sural nerve conduction latency was increased and nerve action potential amplitude decreased in the vitamin E-deficient group in comparison with the vitamin E-sufficient group. Two vitamin E-deficient patients had absent deep tendon reflexes; findings of clinical neurologic examinations were otherwise normal. We recommend early supplementation with vitamin E for patients with cystic fibrosis who have pancreatic insufficiency, to prevent neurologic dysfunction.

Action Potentials↗
PubMed2002

Hyperreflexia in axonal Guillain-Barré syndrome subsequent to Campylobacter jejuni enteritis.

We describe a patient with the acute motor axonal neuropathy (AMAN) form of Guillain-Barré syndrome (GBS), who showed generalized hyperreflexia. A 24-year-old man developed acute paralysis following Campylobacter jejuni enteritis. He showed exaggerated tendon reflexes with abnormal reflex spread to other segments, and was initially diagnosed as having post-infectious myelitis. Nerve conduction studies showed motor axonal degeneration (the AMAN pattern), and increased soleus H-reflex amplitudes. His serum was positive for IgG antibodies to gangliosides GM1b and GalNAc-GD1a. He was treated with plasmapheresis, resulting in rapid recovery. Hyperreflexia was still present 12 months after onset when muscle strength was completely normal. This case provides further evidence that patients with AMAN can develop increased motor neuron excitability, and possible mechanisms for the hyperreflexia are discussed.

Adult↗
PubMed1998

Clinical diagnosis in Karwinskia humboldtiana polyneuropathy.

Intoxication by Karwinskia humboldtiana presents a neurological picture similar to that for Guillain-Barré syndrome or other polyradiculoneuropathies. Clinical diagnosis in poisoned humans may be difficult if no evidence of previous fruit ingestion is available. We present our experience in the clinical diagnosis of Karwinskia humboldtiana polyneuropathy, as confirmed by toxin detection in blood. We designed an open trial at the Pediatric Neurology service and included all cases with acute ascending paralysis that were admitted to our hospital in the last two years. In all cases, we performed hematological, immunological and biochemical profiles, CSF analysis including immunological studies, oligoclonal bands and myelin basic protein determinations. Electrodiagnostic studies were performed, including motor conduction velocities, distal latencies, F-wave latency and compound muscle action potential (CAMP) amplitude. The presence of Karwinskia humboldtiana toxins in blood were determined by thin layer chromatography. In six cases, T-514 Karwinskia humboldtiana toxin was detected. These cases had a symmetric motor polyneuropathy with the absence of tendon reflexes and no sensory signs or cranial nerve involvement. Only one patient required assisted ventilation due to bulbar paralysis. In two of these cases, a sural nerve biopsy revealed a segmental demyelination with swelling and phagocytic chambers in Schwann cells and without lymphocytic infiltration. All six cases survived, with complete recovery in five. We conclude that this intoxication is common in Mexico. The availability of toxin detection in blood samples allows the clinician to establish an accurate diagnosis and should be included in the study of children with polyradiculoneuropathy, especially in countries where this poisonous plant grows.

Child↗
PubMed1998

Early-onset multisystem degeneration with central motor, autonomic and optic nerve disturbances: unusual Riley-Day syndrome or new clinical entity?

We report a 21-year-old woman presenting with a slowly progressive tetraparesis, optic nerve atrophy on both sides, and autonomic disturbances since early childhood. The patient has been carefully followed up for 5 years with clinical and ancillary investigations. The results and the time course strongly suggest an underlying degenerative syndrome affecting parts of three major systems: autonomic, motor and visual. Some symptoms resemble familial dysautonomia (FD, Riley-Day syndrome), however, hallmarks of FD, such as absence of fungiform papillae of the tongue, abnormal reaction on intradermal histamine injection, absent tendon reflexes, are missing, and central motor disturbances have not been described in FD. We consider this syndrome a slowly progressive multisystemic degeneration with two unusual hitherto unreported features: the combination of affected systems (autonomic and motor systems, optic nerves), and the early onset.

Adult↗
PubMed1998

Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia.

A 24-year-old male, who suffered since childhood from a progressive form of ataxia associated with peripheral neuropathy, was found severely deficient in serum vitamin E. He walked with bilateral aid and presented severe dysmetria of the limbs and dysarthric speech; muscular strength and trophism were slightly diminished in the distal muscles of four limbs and there was hypotonia of the arms; he presented absent deep tendon reflexes, bilateral Babinski's sign, reduced proprioception at four limbs, pes cavus and fasciculations of the tongue. Intestinal fat malabsorption and other gastrointestinal or haematological conditions associated with deficiency of this vitamin were ruled out. In this patient, after 2 years of a daily supplement of high doses of vitamin E, a further progression of the disease was not observed and, moreover, the neurophysiological characteristics of his neuropathy appeared clearly improved. A longitudinal evaluation of serum vitamin E levels showed values in the normal range after 13 months of therapy. The patient had molecular genetic analysis of chromosome 8 and was found homozygous for the unusual mutation 513insTT in the alpha-tocopherol transfer protein gene.

Administration, Oral↗
PubMed1998

New method to measure central motor conduction time using transcranial magnetic stimulation and T-response.

Measuring central motor conduction time (CMCT) is one of the useful methods to detect an impaired level of the spinal segment in cervical myelopathy patients. We modified a new technique to calculate the CMCT using tendon reflex latency (T-response) and investigated its accuracy. Motor-evoked potentials (MEPs) following transcranial stimulation were recorded in 19 patients with cervical myelopathy caused by a single level of spinal cord compression. CMCT was measured by subtracting the peripheral conduction time, which was calculated by using the T-response for the biceps brachii muscle (Biceps), the compound muscle action potentials (CMAPs) and the F-wave of the abductor digiti minimi muscle (ADM). In the control subjects, the mean value of CMCT of the Biceps and ADM was 3.8 and 7.0 ms, respectively. The accuracy of the determination of the CMCT for Biceps using T-response was investigated beforehand in the unilateral brachial plexus palsy patients and thoracic spinal cord myelopathy patients. The calculated CMCT (3.88+/-0.65 ms) for Biceps was close to the N2 latency (4.06+/-0.3 ms) of the evoked spinal cord potentials which were recorded from the epidural space on the C3-4 vertebral level following transcranial magnetic stimulation. The CMCT of both the Biceps and ADM was delayed in all cases of C1-2 cord compression. In patients with cord compression on the C3-4 level, two of four patients showed CMCT prolongation in Biceps. The prolongation of CMCT was observed only in ADM in patients with C4-5 or C5-6 cord compression. Measurement of the CMCT using T-responses was useful in proximal limb muscles. Comparison of the CMCT in Biceps and ADM could allow us to better detect the functional level diagnosis for compressive cervical myelopathy.

Adult↗
PubMed1998

Neurocognitive effects of chronic lead intoxication in Andean children.

Lead (Pb) intoxication in children has been associated with neurodevelopmental disabilities which may result in motor and cognitive impairment. We conducted blood lead (PbB) measurements, neurological examinations and cognitive tests on children living in Ecuadorian villages where Pb is used extensively in the glazing of ceramics. Group I consisted of 55 children with a mean PbB level of 48.0 microg/dl (SD: 26.4, range: 9.2-119.1 microg/dl) who received PbB tests and complete neurological examinations. An appreciable number of the children with elevated PbB levels were normal on specific components of the neurological examination. Among the children who showed neurological deficits, higher PbB levels were associated with abnormal tendon reflexes, finger tapping, visual pursuit, size discrimination, draw-a-person, and math calculation skills. Group II consisted of 41 children with a mean PbB level of 47.4 microg/dl (SD: 22.0, range: 6.6-84.7 microg/dl) who were administered Raven's Coloured Progressive Matrices (RCPM) non-verbal reasoning test. Performance on RCPM was abnormal in 22 (53.7%) of 41 children. Children with abnormal RCPM scores had higher PbB levels (t-test: P=0.030). There was a significant inverse correlation between RCPM scores and PbB levels for children ages 9 years and older (r=-0.618, P=0.011). Males had higher mean PbB levels as a function of age than females (t-test: P=0.037), and more males showed neurocognitive deficits. The results demonstrate a range of neurological responses in children with chronically elevated PbB levels from apparent exceptional neuro-physiological tolerance of PbB intoxication, to some fine motor and cognitive deficits.

Ceramics↗
PubMed2004

[Neurological damage in pelvic injuries: a continuous prospective series of 50 pelvic injuries treated with an iliosacral lag screw].

PURPOSE OF THE STUDY: The purpose of this study was to analyze lesions to the lumbosacral plexus related to pelvic injury and its treatment. MATERIAL AND METHODS: Forty-four patients presented 50 posterior osteoligamentary lesions of the pelvic girdle. All patients except eight had other injuries. Mean ISS was 27/75. Posterior lesions were: iliosacral disjunction (n=23), extra-foraminal fracture of the sacrum (n=4), transforaminal fracture (n=22), intra-foraminal fracture (n=1). Vertical posterior displacement was > 1 cm for 24 posterior lesions. Orthopedic reduction was performed at admission for all patients. Fluoroscopy-guided percutaneous lag screw fixation was performed in all cases, on the average eight days after the accident. Neurological involvement was evaluated at admission, after surgery, and at last follow-up. Data were recorded for skeletal muscles, lower limb dermatomes, tendon reflexes, and anal tone. Screw emplacement was checked on the CT-scan. Outcome was assessed subjectively with the Majeed score, a self-administered visual analog scale, and use of antalgesic drugs according to the WHO classification. RESULTS: The neurological examination could not be performed for ten patients at admission. Postoperatively, there was a neurological deficit associated with 26 osteoligamentary lesions (23 lesions of the lumbosacral trunk, 14 lesions of the S1 spinal nerve, 3 lesions of the pudendal nerve, 12 lesions of the superior gluteal nerve, and 10 lesions of the femoral nerve). Patients with neurological involvement had experienced more severe trauma. The iliosacral screw was partially extra-osseous in thirteen cases, with an associated iatrogenic neurological deficit in seven. At mean follow-up of 20 Months (range 4-50) there persisted ten major sequelae including eight cases of hallux extensor deficit. DISCUSSION: Neurological involvement is underestimated during the acute phase of trauma. After recovery, only the manifestations of major injuries persist. The prognosis is poor in the event of a stretched lumbosacral trunk or gluteal nerve due to iliosacral disjunction. Prognosis is good for nerve contusion due to sacral fracture because of early reduction. The femoral nerve is generally injured by compression due to a peri-fracture hematoma; recovery is the rule. Iliosacral screwing requires rigorous technique by a skilled and experienced surgeon. CONCLUSION: About 52% of posterior osteoligamentary injuries are associated with neurological symptoms. After recovery, permanent deficit persists in 21.7%. The most common sequelae are hallux extensor and gluteus medius palsy due to stretching of the lumbosacral trunk.

Adolescent↗
PubMed2004

Lambert-Eaton myasthenic syndrome.

The Lambert-Eaton Myasthenic Syndrome (LEMS) is characterised by proximal muscle weakness initially affecting gait, autonomic symptoms (dry mouth, constipation, erectile failure), augmentation of strength during initial voluntary activation, and depressed tendon reflexes with post-tetanic potentiation. The disorder is paraneoplastic (small cell lung cancer) in about 60p. cent (P-LEMS); no cancer is associated in the remainder (NP-LEMS). LEMS affects all races. NP-LEMS can occur in childhood as well as adult life; P-LEMS is unusual at<30 Years. The weakness results from a reduction in the quantal release of acetylcholine from motor nerve terminals, caused by autoantibodies to P/Q-type voltage-gated calcium channels (VGCCs) that are provoked by tumour VGCCs in P-LEMS; the stimulus in NP-LEMS is not known. These antibodies may be implicated in the rarely associated cerebellar degeneration. The diagnosis can be confirmed by detecting the specific antibody in a radioimmunoprecipitation assay, and by finding a reduced compound muscle action potential amplitude that increases by>100p. cent following maximum voluntary activation. Most patients benefit from 3,4-diaminopyridine; pyridostigmine is less effective. Specific tumour therapy in P-LEMS will often ameliorate the neurological disorder. In those with severe weakness, IVIg or plasmapheresis confers short-term benefits. Prednisone alone or combined with azathioprine or cyclosporin can achieve long-term control of the disorder.

4-Aminopyridine↗
PubMed2005

[Cortical blindness associated with Guillain-Barre syndrome: a complication of dysautonomia?].

INTRODUCTION: We report a case of a Guillain-Barre syndrome (GBS) with subarachnoid hemorrhage and regressive occipital white matter lesions. OBSERVATION: A 62-year-old woman developed ascendant progressive paresthesia and weakness of arms and legs, 48 hours after enteritis infection. Neurological examination showed tetraparesia with loss of deep tendon reflexes and alteration of proprioception tests. Nerve conduction studies revealed polyradiculoneuritis. Then she presented an acute blindness and hypertension. Brain magnetic resonance imaging showed bilateral occipital lesions and subarachnoid hemorrhage. Cerebrospinal fluid analysis revealed an elevated protein level (1.54 g/l) and red blood cells without meningitis. Brain arteriography was normal. Intravenous immunoglobulins improved neurological symptoms. CONCLUSION: Posterior localisation of reversible white matter lesions evoked a reversible posterior leukoencephalopathy. The implication of arterial hypertension caused by dysautonomia during GBS could be suspected.

Autonomic Nervous System Diseases↗
PubMed2006

[Peripheral neuropathy induced by acute methyl bromide skin exposure: a case report].

INTRODUCTION: Methyl bromide is a pesticide used as a fumigating agent in homes, for food storage and soil disinfection. Chronic and acute exposures to methyl bromide are known to cause damage to the central and peripheral nervous system. OBSERVATION: We describe a case of a 31-year-old patient who developed a peripheral neuropathy due to an acute exposure on skin of methyl bromide. This patient was admitted after an accidental dermal exposure to methyl bromide while fumigating dates. The patient suffered dermal burns and vesicles on the upper limbs. Two weeks following exposure, she developed weakness of the lower and upper limbs, ataxia, paresthesiae of both legs and arms, abolition of tendon reflexes in the upper and lower limbs and Babinski sign. An axonal neuropathy was detected at the electrophysiological study. The patient recovered gradually. CONCLUSION: While cases of methyl bromide are rare, this study illustrates the toxic effect on the peripheral nervous system.

Adult↗
PubMedDate not supplied

She could not look to either side.

A young woman presented with the recent onset of an inability to move the eyes on a horizontal plane. Examination revealed limited horizontal gaze to the right and a complete left ophthalmoplegia. The limitation of eye movement could not be overcome by the doll's head maneuver. Other signs included bilateral orbicularis oculi weakness and brisk deep tendon reflexes. Her condition gradually improved and two months following the onset of the illness she was symptom free.

Acute Disease↗
PubMed1999

Medically treated intraspinal "Brucella" granuloma.

BACKGROUND: Although there have been reports of Brucella granuloma or abscess in the literature, they were all localized extradurally except one, and most patients underwent surgery. CASE REPORT: A 40-year-old female presented with urinary and fecal incontinence and a two-month history of progressive weakness of the right leg and numbness of the left leg. Four months previously, she had been diagnosed with systemic brucellosis with a period of radiculomeningoencephalitis; she was treated successfully with rifampicin, doxycycline, trimethoprim/sulfamethoxazole (TMP/SMZ), and streptomycin, and was discharged symptom-free on rifampicin and doxycycline. Neurological examination revealed spastic paraparesis, globally hyperactive deep tendon reflexes (DTRs) and sensory level at T6. Magnetic resonance imaging (MRI) of the spinal cord revealed a 10 x 30 mm intradural-intramedullary mass lesion at the T5 level with surrounding edema that enhanced with contrast. The cerebrospinal fluid (CSF) was xanthochromic with lymphocytic pleocytosis and elevated levels of albumin, immunoglobulins, and antibody titers for Brucella. The medications were modified to rifampicin 1200 mg, doxycycline 400 mg, and TMP/SMZ 480/2400 mg daily, and methylprednisolone 100 mg in decremental doses (for 6 weeks). After 2 months, the patient was almost symptom-free and her medication doses were decreased. After 5 months, the mass lesion resolved almost completely. The treatment was discontinued after 2 years. CONCLUSIONS: The case is presented because of its uniqueness. In cases of Brucella granuloma, the authors recommend a trial of medical treatment with adequate dosages for a reasonable length of time before considering surgical intervention.

Adult↗
PubMedDate not supplied

Mexiletine for treatment of chronic painful diabetic neuropathy.

Sixteen of nineteen patients completed a randomised double-blind crossover trial to assess the effect of oral mexiletine (10 mg/kg bodyweight daily) on the symptoms and signs of chronic painful diabetic neuropathy. The median age of the sixteen patients was 50 years (range 30-64). Assessment with a five-item clinical symptom scale showed significant improvement during the mexiletine phase compared with the placebo phase. Pain was reduced during mexiletine but not during placebo, as assessed by a visual analogue rating scale. Mexiletine treatment had no effect on tendon reflexes, vibration threshold levels, beat-to-beat variation in heart rate during deep breathing, and postural blood pressure response. Mild side-effects were seen in three of the sixteen patients during mexiletine treatment.

Administration, Oral↗
PubMed1996

Critical illness myopathy and neuropathy.

BACKGROUND: Critically ill patients may develop muscle weakness or paralysis during the course of sepsis and multiple-organ failure. We studied peripheral nerve and muscle disorders (NMD) in comatose patients. METHOD: Comatose patients who developed paralysis associated with absent deep-tendon reflexes had electroneuromyography (ENMG) and muscle-nerve biopsy specimens taken. Onset and duration of sepsis, multiple-organ dysfunction and failure, biochemical alterations, and drugs potentially interfering with nerve-muscle function were recorded. FINDINGS: 24 patients became quadriparetic or quadriplegic; muscle changes were found in 23. Axonal neuropathy was found in eight of 22 patients examined. All patients had prolonged sepsis and multiple-organ dysfunction, but only 14 had multiple-organ failure. Drugs such as steroids, neuromuscular-blocking agents, and aminoglycosides were not responsible for paresis, and the part played by hyperglycaemia and hypoalbuminaemia is uncertain. Attending physicians predicted a fatal outcome in all cases, although six of seven survivors fully recovered within 115-210 days from the onset of paralysis. INTERPRETATION: Comatose patients may become completely paralysed because of NMD. The diagnosis is important to avoid unnecessary investigations and unreasonably pessimistic prognosis. ENMG is essential for the diagnosis and for planning further clinical management. Biopsy needs to be done only when it is necessary to properly classify NMD.

Biopsy↗
PubMed2004

Chiropractic care of a patient with low back pain associated with subluxations and a Malgaigne-type pelvic fracture.

OBJECTIVE: To describe the chiropractic care of a patient with a pelvic ring fracture and concomitant subluxations of multiple segments of the spinal column. CLINICAL FEATURES: A 23-year-old male, after falling down a flight of stairs, was initially hospitalized for fractures of the pelvis. Five weeks posthospitalization, the patient initiated chiropractic care with complaints of severe low back pain with lower extremity involvement. He also complained of neck pain and occipital headache. The patient had several positive low back orthopedic tests with bilaterally absent Achilles deep tendon reflexes. The anteroposterior radiographic view revealed ununited fractures at the left superior and inferior pubic ramus, noted as a type I Malgaigne fracture. Subluxations were detected at the left innominate (ie, fracture-subluxation) and at the patient's lumbar, thoracic, and cervical spine. INTERVENTION AND OUTCOME: The patient was cared for with contact-specific, high-velocity, low-amplitude adjustments to sites of vertebral and sacroiliac subluxations. The patient's response to care was positive, receiving great pain relief. Less than 3 months after initiating care, the patient returned to work on regular duty. CONCLUSION: There are indications that patients suffering from the injuries described above may derive benefits from chiropractic care. The practitioner must pay careful attention to issues of biomechanical and vascular stability and adjustment modifications in these types of patients.

Accidental Falls↗
PubMed1999

Cardiac sympathetic denervation in Ross syndrome demonstrated by MIBG-SPECT.

We investigated cardiac sympathetic innervation by metaiodobenzylguanidine (MIBG) imaging in a patient with tonic pupils, loss of tendon reflexes, and segmental anhidrosis (Ross syndrome). Despite normal cardiovascular reflex tests, we observed a reduced global myocardial MIBG uptake as well as a regional uptake defect over the posterolateral cardiac territory indicating left ventricular peripheral sympathetic denervation. MIBG imaging seems to be a useful noninvasive diagnostic method for detection of early--possibly subclinical--cardiac autonomic impairment in Ross syndrome and provides further evidence of injury to postganglionic autonomic neurons as the underlying pathological mechanism of the disease.

3-Iodobenzylguanidine↗