1/10. Hypertonia, hyperreflexia, and excessive startle response in a neonate.Following an uneventful gestation, a newborn girl presented with hypertonia, hyperreflexia, tremor, and excessive startle response. nose tap elicited a dramatic head recoil. Her mother had similar symptoms beginning as a child that improved but persisted into adulthood. In addition, several members of mother's family died unexpectedly in infancy. Hypertonia in the newborn period indicates central nervous system dysfunction of several possible causes, most of which are associated with severe cognitive deficits and limited neurological development.- - - - - - - - - - ranking = 1keywords = hyperreflexia (Clic here for more details about this article) |
2/10. cyproheptadine for intrathecal baclofen withdrawal.OBJECTIVE: To evaluate the efficacy of cyproheptadine in the management of acute intrathecal baclofen (ITB) withdrawal. DESIGN: Descriptive case series. SETTING: University hospital with a comprehensive in- and outpatient rehabilitation center. PARTICIPANTS: Four patients (3 with spinal cord injury, 1 with cerebral palsy) with implanted ITB infusion pumps for treatment of severe spasticity, who had ITB withdrawal syndrome because of interruption of ITB infusion. INTERVENTIONS: patients were treated with 4 to 8mg of cyproheptadine by mouth every 6 to 8 hours, 5 to 10mg of diazepam by mouth every 6 to 12 hours, 10 to 20mg of baclofen by mouth every 6 hours, and ITB boluses in some cases. MAIN OUTCOME MEASURES: Clinical signs and symptoms of ITB withdrawal of varying severity were assessed by vital signs (temperature, heart rate), physical examination (reflexes, tone, clonus), and patient report of symptoms (itching, nausea, headache, malaise). RESULTS: The patients in our series improved significantly when the serotonin antagonist cyproheptadine was added to their regimens. fever dropped at least 1.5 degrees C, and heart rate dropped from rates of 120 to 140 to less than 100bpm. Reflexes, tone, and myoclonus also decreased. patients reported dramatic reduction in itching after cyproheptadine. These changes were associated temporally with cyproheptadine dosing. DISCUSSION: Acute ITB withdrawal syndrome occurs frequently in cases of malfunctioning intrathecal infusion pumps or catheters. The syndrome commonly presents with pruritus and increased muscle tone. It can progress rapidly to high fever, altered mental status, seizures, profound muscle rigidity, rhabdomyolysis, brain injury, and death. Current therapy with oral baclofen and benzodiazepines is useful but has variable success, particularly in severe cases. We note that ITB withdrawal is similar to serotonergic syndromes, such as in overdoses of selective serotonin reuptake inhibitors or the popular drug of abuse 3,4-methylenedioxymethamphetamine (Ecstasy). We postulate that ITB withdrawal may be a form of serotonergic syndrome that occurs from loss of gamma-aminobutyric acid B receptor-mediated presynaptic inhibition of serotonin. CONCLUSION: cyproheptadine may be a useful adjunct to baclofen and benzodiazepines in the management of acute ITB withdrawal syndrome.- - - - - - - - - - ranking = 2.055347058376E-6keywords = spinal (Clic here for more details about this article) |
3/10. cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: a new phenotype.OBJECTIVE: To describe three unrelated children with a distinctive variant of Aicardi-Goutieres syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures. RESULTS: neuroimaging showed bilateral calcification of basal ganglia and white matter. CSF glucose, protein, cell count, and interferon alpha were normal. Abnormal CSF findings included extremely high neopterin (293 to 814 nmol/L; normal 12 to 30 nmol/L) and biopterin (226 to 416 nmol/L; normal 15 to 40 nmol/L) combined with lowered 5-methyltetrahydrofolate (23 to 48 nmol/L; normal 64 to 182 nmol/L) concentrations in two patients. The absence of pleocytosis and normal CSF interferon alpha was a characteristic finding compared to the classic AGS syndrome. Genetic and enzymatic tests excluded disorders of tetrahydrobiopterin metabolism, including mutation analysis of gtp cyclohydrolase feed-back regulatory protein. CSF investigations in three patients with classic AGS also showed increased pterins and partially lowered folate levels. CONCLUSIONS: Intrathecal overproduction of pterins is the first biochemical abnormality identified in patients with AGS variants. Long-term substitution with folinic acid (2-4 mg/kg/day) resulted in substantial clinical recovery with normalization of CSF folates and pterins in one patient and clinical improvement in another. The underlying defect remains unknown.- - - - - - - - - - ranking = 8.2213882335041E-6keywords = spinal (Clic here for more details about this article) |
4/10. Use of botulinum toxin type B for the treatment of detrusor hyperreflexia in a patient with multiple sclerosis: a case report.We describe a patient with multiple sclerosis (MS) who had detrusor hyperreflexia that was not responsive to oral medications or clean intermittent catheterization. This patient was successfully treated with 2 separate injections of botulinum toxin type B into the bladder. The results of the treatment lasted 4 months and there were no side effects. A cystometrogram (CMG) done before the botulinum toxin type B injections showed significant detrusor instability. A repeat CMG months later showed no detrusor instability. To our knowledge, this is the first reported successful use of botulinum toxin type B in a patient with detrusor hyperreflexia from MS.- - - - - - - - - - ranking = 1.2keywords = hyperreflexia (Clic here for more details about this article) |
5/10. frontal lobe dysfunction in sporadic hyperekplexia--case study and literature review.Hyperekplexia (HE), or startle disease, is usually a familial disorder associated with mutations in the glycine receptor alpha1 subunit gene (GLRA1), characterised by exaggerated startle reactions to unexpected auditory, somaesthetic and visual stimuli. Non-familial cases may be idiopathic, or associated with pathology usually in the brainstem or rarely in the supratentorial compartment. The pathophysiological basis of HE is unclear.We report the case of a 40-year-old woman presenting with excessive startle response to unexpected stimuli and falls since the age of 16 years. There was no family history. She was initially diagnosed with epilepsy and started on phenytoin with no resolution of her symptoms. Clinical examination revealed hyperreflexia and an insecure broad-based gait but no other abnormalities. Routine comprehensive neuropsychological assessment revealed below average intelligence with signs of frontal lobe dysfunction. EEG showed non-specific abnormalities in the right frontal and central regions. A (99m)Tc-HMPAO SPET scan revealed hypoperfusion in the frontal (worse on the right) and temporal lobes and to a lesser extent in the basal ganglia. MRI was normal, as well as blood and CSF tests. No mutations were found in a genetic analysis of GLRA1. The patient improved partially with treatment by clonazepam.The localisation of the clinical and neuropsychological findings accord with the EEG and SPET scan abnormalities in our patient and corroborates previous reports. Appropriate neuropsychological testing and functional imaging enable more accurate delineation of the clinical phenotype of this rare disorder.- - - - - - - - - - ranking = 0.2keywords = hyperreflexia (Clic here for more details about this article) |
6/10. Aicardi-Goutieres syndrome: clinical and neuroradiological findings of 10 new cases.AIM: To describe the clinical and neuroimaging findings in new cases with Aicardi-Goutieres syndrome (AGS) from egypt. methods: Ten patients with progressive encephalopathy, bilateral calcification of the basal ganglia and spastic quadriplegia were described. Feeding difficulties, irritability, unexplained episodic fever and acrocyanosis were also observed. They were diagnosed as AGS after excluding possible non-genetic causes (especially TORCH) and because of the high interferon-alpha (IFN-alpha) level in cerebrospinal fluid (CSF) in two children who underwent this specific investigation. RESULTS: Six patients had postnatal microcephaly. putamen was by far the most common site of calcification (nine cases) inside the basal ganglia. Calcifications were extended to the white matter, periventricular and cerebellum in three cases. brain atrophy and/or white matter demyelination were evident in most of the cases. Further, hypogenesis of corpus callosum was detected in two cases; one of them had in addition cerebellar hypoplasia, atrial septal defect (ASD) and horseshoe kidney. To the best of our knowledge, the association of these congenital abnormalities has not been reported before in AGS. Eight families were consanguineous. CONCLUSION: This paper presents variability in both age of onset, clinical picture and neuroimaging findings even in the same family, comprising new congenital abnormalities associated with AGS and subsequently expanding the spectrum of heterogeneity. The observation of familial cases and both affected males and females emphasized the major role of the single gene inheritance.- - - - - - - - - - ranking = 2.055347058376E-6keywords = spinal (Clic here for more details about this article) |
7/10. Acute renal failure associated with dysfunctioning detrusor muscle in multiple sclerosis.patients with multiple sclerosis (MS) typically have neurogenic lower urinary tract dysfunction. Most patients present with bladder hyperreflexia and failure to empty the bladder secondary to detrusor-distal sphincter dyssynergia. This case study is unique in the literature in reporting on a patient presenting with acute renal failure (ARF) due to vesico-sphincter dysfunction associated with MS. A 64-year-old man with MS presented in the emergency department with the chief complaint of a marked decrease in urinary output for 2 days and weakness. He had been treated for MS for 7 years. A mass compatible with a full bladder was palpated in the suprapubic region on examination. digital rectal examination disclosed grade I-Il prostate hypertrophy. urinary catheters were inserted and urinary output was monitored. The residual urine was drained and recorded as 1100 mL. Initial laboratory findings, such as the BUN/creatinine ratio, urinary sodium concentration, and urine gravity, were compatible with ARF. The patient recovered rapidly in 24 hours following urinary catheterization and prompt medication in the emergency department. He was admitted to the neurology ward with a diagnosis of acute urinary outflow obstruction resulting in ARF due to detrusor dysfunction complicating an MS attack. ARF may complicate the course of patients with MS and associated detrusor-external sphincter dyssynergia. Renal recovery of these patients may be facilitated by urinary catheterization and supportive treatment.- - - - - - - - - - ranking = 0.2keywords = hyperreflexia (Clic here for more details about this article) |
8/10. An unusual case of dantrolene sodium-induced urinary retention in post-traumatic minimally responsive state.INTRODUCTION: An unusual case of urinary retention is reported occurring during the inpatient rehabilitation of minimally responsive state (MRS) following severe traumatic brain injury (TBI). CLINICAL PICTURE: Urodynamic evaluation showed detrusor acontractility and subsequent management involved intermittent bladder catheterization and treatment of a single urinary tract infection. TREATMENT: Factors contributing to her bladder paralysis included severe immobility, tetraplegia and treatment of diffuse spasticity with oral dantrolene sodium 250 mg per day. constipation, diabetes and spinal cord injury were absent. In addition, she received unilateral partial sciatic neurolysis with 50% alcohol for severe knee flexor spasticity and intra-muscular Botulinum toxin A to both spastic upper limbs. OUTCOME: Bladder acontractility resolved completely when dantrolene was reduced with subsequent achievement of a catheter-free status and small post-void residual volumes. Repeat urodynamics showed spontaneous detrusor contractions. CONCLUSION: A discussion of possible aetiologic factors for detrusor acontracility following TBI is presented including a brief review of the literature.- - - - - - - - - - ranking = 2.055347058376E-6keywords = spinal (Clic here for more details about this article) |
9/10. Neuroaxonal dystrophy at birth with hypertonicity and basal ganglia mineralization.A full-term male infant exhibited rigidity of all extremities with hyperreflexia beginning soon after birth and lasting until his death at age 6 months. Head circumference remained at the 25th to 50th percentile. Distinct sleep-wake cycles and responsiveness to visual, auditory, and tactile stimuli developed. Metabolic studies, skin biopsy, electroencephalography, and electromyography produced normal results. Head computed tomographic and magnetic resonance imaging scans revealed mineralization of the basal ganglia and thalamus. Muscle and nerve biopsy results were consistent with axonal dystrophy. autopsy showed widespread neuronal loss, with reactive gliosis, marked in the globus pallidus and brainstem reticulate core; spheroids in globus pallidus, nucleus cuneatus, and upper cervical cord; and mineralized neurons in the inner division of globus pallidus and thalamus. Neonatal hypertonia, rapid progression, and mineralization of the basal ganglia are unusual features of neuroaxonal dystrophy exhibited in this case.- - - - - - - - - - ranking = 0.2keywords = hyperreflexia (Clic here for more details about this article) |
10/10. Effect of transdermal clonidine on spinal spasticity. A case series.clonidine, a centrally acting alpha 2 receptor adrenergic agonist, has been successfully used as adjunctive therapy in patients with spinal cord injury with problematic spasticity not adequately controlled by recognized spasmolytic agents. A transdermal system providing approximately constant and continuous systemic delivery of clonidine has been recently introduced to enhance patient compliance. However, experience with transdermal clonidine in the management of spasticity is limited. Three cases are presented of patients with spasticity as the result of cervical spinal cord injury, inadequately managed by oral baclofen, in whom transdermal clonidine was administered. Significant improvement in spastic hypertonia was observed in all three cases. Transdermally delivered clonidine was well tolerated, with reported side effects limited to dryness of the mouth.- - - - - - - - - - ranking = 1.2332082350256E-5keywords = spinal (Clic here for more details about this article) |
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