1/216. Encephalopathy associated with haemophagocytic lymphohistiocytosis following rotavirus infection.A 2-year-old Japanese boy with a haemophagocytic lymphohistiocytosis (HLH) associated encephalopathy which developed after rotavirus infection is described. The neurological symptoms consisted of coma, seizures and spastic quadriplegia. On therapy with steroids, etoposide and cyclosporin A, the patient recovered without any neurological deficits. The interferon-gamma levels in serum and CSF were elevated at onset of the disease but had returned to normal at the time of clinical remission. Brain MRI revealed diffuse white matter abnormalities and parenchymal volume loss. Proton magnetic resonance spectroscopy revealed elevated lactate in the abnormal lesions observed on MRI, indicating that macrophages not exhibiting aerobic metabolism had infiltrated the CNS. At the time of clinical remission, the white matter abnormalities and brain lactate had disappeared. These findings suggested that the neurological symptoms resulted from the overproduction of cytokines by activated T-cells and macrophages. The pathophysiology of a HLH associated encephalopathy was considered to be a local immune response within the CNS, because interferon-gamma can induce the expression of major histocompatibility complex class I and II antigens on glial cells in the CNS. CONCLUSION: Haemophagocytic lymphohistiocytosis associated encephalopathy should be considered early in the differential diagnosis of cases with acute onset neuropathy.- - - - - - - - - - ranking = 1keywords = spastic (Clic here for more details about this article) |
2/216. Progressive ponto-bulbar palsy with deafness. A clinico-pathological study.Progressive ponto-bulbar palsy with deafness is a rare disease. It seems to be an abiotrophic process with autosomal recessive inheritance in most instances. Only one autopsy case had been briefly described (Lelong et al., 1941). The clinical features and the pathological findings of a new case are reported. The structures primarily involved are the grey matter of the brain stem and the spinal cord, including to some extent the optic tracts and most of the fiber tracts in the brain stem with exception of the pyramidal tracts.- - - - - - - - - - ranking = 3.530257977418keywords = palsy (Clic here for more details about this article) |
3/216. cyclosporine-induced white and grey matter central nervous system lesions in a pediatric renal transplant patient.Major neurologic complications secondary to cyclosporine are well documented and are known to include confusion, cortical blindness, seizure, spasticity, paresis, ataxia and coma. Most previous reports attribute these to white matter central nervous system (CNS) lesions or white/grey matter border lesions. Many predisposing factors have been identified, including: elevated levels of cyclosporine, hypomagnesemia, hypocholesterolemia, aluminium toxicity, high dose steroids, hypertension and infection. However CNS events attributed to cyclosporine have been reported without any of these risk factors. We report a case of a child developing multiple white and grey matter thalamic and cortical lesions along with acute neurologic deterioration, and then review cyclosporine mediated CNS injury, including the roles of p-glycoprotein and cyclophilin.- - - - - - - - - - ranking = 1keywords = spastic (Clic here for more details about this article) |
4/216. Infantile and juvenile presentations of Alexander's disease: a report of two cases.We describe 2 new cases of Alexander's disease, the first to be reported in belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examination showed widespread myelin loss with Rosenthal fibers (RFs) accumulation throughout the neuraxis. She was the third of heterozygotic twins, the 2 others having developed normally and being alive at age 5 years. The second patient developed at age 10 years and over a decade spastic paraparesis, palatal myoclonus, nystagmus, thoracic hyperkyphosis and thoraco-lumbar scoliosis with radiological findings of bilateral anterior leukoencephalopathy. Brain stereotactic biopsy at age 16 years demonstrated numerous RFs. With these 2 cases, we review the literature on the various clinico-pathological conditions reported as Alexander's disease. We discuss the nosology of this entity and the pathogeny of RFs formation and dysmyelination. Clues to the diagnosis of this encephalopathy in the living patient are briefly described.- - - - - - - - - - ranking = 2keywords = spastic (Clic here for more details about this article) |
5/216. A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome.Two sibs with an encephalopathy, including intracerebral calcification and a white matter disease, are reported. In the younger sister, the cerebrospinal fluid showed chronic pleocytosis and clinically she strictly fits to the diagnosis of Aicardi-Goutieres syndrome. Both sisters were affected by a spastic tetraplegia, truncal hypotonia and dystonic posturing, but the clinical course and the neuroradiological findings were milder in the older sister and she showed no cerebrospinal fluid pleocytosis. The present cases and recent reports of intrafamilial variability of Aicardi-Goutieres syndrome may raise interesting aspects as to the limits and criteria of this syndrome.- - - - - - - - - - ranking = 1keywords = spastic (Clic here for more details about this article) |
6/216. Epidermoid cysts of the pineal region.Localization of epidermoid cysts to the pineal region is rare. The 7-year-old boy now reported presented with an 18-month history of progressive ataxia. CT and MRI scans demonstrated a 2.5x2.5 cm cyst at the pineal region with obstructive hydrocephalus. At surgery via an occipital transtentorial approach, a characteristic "pearly tumour" was encountered, and complete resection was achieved. We present the management of this child with pineal region epidermoid cyst and review 11 cases reported in the literature since 1968. In all, 8 of the 12 patients were males. The age at the time of diagnosis ranged from 7 years to 69 years. Parinaud's syndrome and hydrocephalus are the most common presenting findings. All but 1 patient underwent direct surgical resection; 1 had stereotactic decompression. Surgical treatment brought about complete resolution of the presenting symptoms and signs in 10 of the 12 cases. One patient had persistent upgaze palsy. One patient died from progression of the pineal region mass. This patient presented with hemiparesis, which is a marker of clinical aggressiveness. The authors advocate direct surgical attack as opposed to stereotactic diagnosis and aspiration to: (1) obtain maximal resection and thereby limit the potential for recurrence and delayed complications of the cyst; (2) possibly avoid shunt placement in patients who present with hydrocephalus; and (3) decrease the likelihood of sampling error.- - - - - - - - - - ranking = 0.7060515954836keywords = palsy (Clic here for more details about this article) |
7/216. Apneustic breathing in children with brainstem damage due to hypoxic-ischemic encephalopathy.To confirm the presence of apneusis in patients with hypoxic-ischemic encephalopathy and to clarify which factors influence their respiratory patterns, polygraphic studies were performed on two patients. Apneusis was clinically suspected in both patients who had severe brainstem damage. In one subject, inputs of vagal afferents from the gastrointestinal tract and the urinary bladder often resulted in extreme tachypnea instead of apneusis. lung inflation facilitated expiration during inspiratory arrest. Expiration preceded a periodic inhibition of rigospastic discharge in the right biceps muscle. In the other subject, prolonged inspiratory pauses with cyanosis occurred with or without preceding epileptic seizure. Both phenytoin dose reduction and treatment with tandospirone, a serotonin-1A agonist, were effective in improving the respiratory distress in this subject.- - - - - - - - - - ranking = 1keywords = spastic (Clic here for more details about this article) |
8/216. Leukoencephalopathy and raised brain lactate from heroin vapor inhalation ("chasing the dragon")BACKGROUND: inhalation of heated heroin vapor ("chasing the dragon"), which is gaining popularity among drug users seeking to avoid the risks of parenteral drug administration, can produce progressive spongiform leukoencephalopathy. methods: We studied the clinical phenotype and course, MRI, MRS, and brain pathology in the first American patients described with this syndrome. RESULTS: Two of the three heroin users studied inhaled heroin pyrolysate together daily over the course of 2 weeks. They developed ataxia, dysmetria, and dysarthria. Patient 1 progressed to an akinetic mute state with decorticate posture and subsequent spastic quadriparesis. Patient 2 developed a mild spastic quadriparesis and gait freezing. Patient 3 was asymptomatic following less heroin exposure. Brain MRI showed diffuse, symmetrical white matter hyperintensities in the cerebellum, posterior cerebrum, posterior limbs of the internal capsule, splenium of the corpus callosum, medial lemniscus, and lateral brainstem. MRS showed elevated lactate. Brain biopsy (Patient 1) showed white matter spongiform degeneration with relative sparing of U-fibers; electron microscopy revealed intramyelinic vacuolation with splitting of intraperiod lines. Progressive deterioration occurred in patients 1 and 2 over 4 weeks. Both were treated with antioxidants including oral coenzyme Q, and clinical improvement occurred. Patient 1 recovered nearly completely over 24 months. Patient 2 improved, but developed a delayed-onset cerebellar hand tremor. Both still have white matter abnormalities on MRI and MRS. CONCLUSIONS: Elevated lactate in white matter and the possible response to antioxidants suggests mitochondrial dysfunction in progressive spongiform leukoencephalopathy following inhalation of heated heroin vapor.- - - - - - - - - - ranking = 3.8301460113349keywords = dysarthria, spastic (Clic here for more details about this article) |
9/216. Histiocytic lesion mimicking intrinsic brainstem neoplasm. Case report.This 10-year-old girl presented with a 1-month history of progressive bulbar palsy and a solitary enhancing mass originating within the floor of the fourth ventricle. Results of initial imaging studies and presentation were suggestive of neoplasia. Subtotal resection was performed and pathological examination revealed the mass to be a histiocytic lesion, with no evidence of a glioma. The patient had no other stigmata of histiocytosis and was treated with steroid medications, resulting in prolonged resolution of the lesion. This case demonstrates that for discrete brainstem lesions the differential diagnosis includes entities other than glioma for which treatment is available. biopsy sampling should be considered when technically feasible.- - - - - - - - - - ranking = 0.7060515954836keywords = palsy (Clic here for more details about this article) |
10/216. Etiology and surgical management of horizontal pontine gaze palsy with ipsilateral esotropia.INTRODUCTION: An esotropia ipsilateral to a horizontal pontine gaze palsy has been infrequently reported. We discuss the etiology and review the surgical management of this ocular motility defect. methods: Four patients with radiographically documented dorsal pontine lesions and persistent horizontal gaze palsy with esotropia ipsilateral to the gaze palsy were treated. In each patient, the esotropia was present in attempted primary gaze, producing symptomatic diplopia. An anomalous face turn was required to attain single binocular vision. RESULTS: All 4 patients underwent surgical correction to alleviate the anomalous head position and diplopia. Bilateral, asymmetric surgery was required to achieve a long-term successful result. Single binocular vision in the primary position with elimination or marked improvement of the compensatory head posture was initially achieved in all 4 patients. One patient, who had not undergone asymmetric strabismus surgery to reconcile incomitance produced by the esotropia, rapidly developed a residual esotropia. CONCLUSIONS: Ophthalmologists should recognize that concurrent esotropia may occur in patients with horizontal pontine gaze palsy. Single binocular vision in the primary position, an expanded binocular visual field, and alleviation of a compensatory head position are achievable with strabismus surgery.- - - - - - - - - - ranking = 5.6484127638688keywords = palsy (Clic here for more details about this article) |
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