1/113. Congenital muscular dystrophy with central and peripheral nervous system involvement in a Belgian patient.We report a patient with congenital muscular dystrophy (CMD), developmental brain defects, and peripheral neuropathy. Marked hypotonia and plagiocephaly were noted at birth. failure to thrive, generalized muscle weakness and wasting, absent deep tendon reflexes, partial seizures, and secondary microcephaly developed. brain MRI showed a large area of cortical dysplasia, a thin but complete corpus callosum, and diffuse ventriculomegaly. Nerve conduction velocities were slow and creatine kinase levels only mildly elevated. Muscle biopsy showed dystrophic features with normal merosin, sarcoglycan, and dystrophin immunostaining. The Japanese Fukuyama CMD founder mutation was not detected. This is the first report of a patient with merosin-positive CMD, cobblestone lissencephaly, and demyelinating peripheral neuropathy.- - - - - - - - - - ranking = 1keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
2/113. Migration of silicone oil into the brain: a complication of intraocular silicone oil for retinal tamponade.PURPOSE: To report a case in which intravitreal silicone oil migrated along the intracranial portion of the optic nerve and into the lateral ventricles of the brain after the repair of a retinal detachment secondary to cytomegalovirus retinitis. methods: A 42-year-old man with acquired immunodeficiency syndrome (AIDS) developed a rhegmatogenous retinal detachment in his left eye secondary to a cytomegalovirus infection of the retina. The detachment was repaired using 5000 cs intraocular silicone oil for a long-term tamponade. Subsequently, the affected eye developed glaucoma, which was poorly controlled. Fifteen months after the retinal surgery, he developed a peripheral neuropathy that was thought to be AIDS related. Computed tomography and magnetic resonance imaging of the head were performed to investigate the neuropathy. RESULTS: The patient was found to have a foreign substance within his lateral ventricles that shifted with position and was identical with respect to its imaging properties to the remaining intraocular silicone oil. Additional material was found along the intracranial portion of his optic nerve. CONCLUSION: Under certain circumstances, intraocular silicone oil may migrate out of the eye, along the intracranial portion of the optic nerve, and into the lateral ventricles of the brain.- - - - - - - - - - ranking = 0.0097452262756417keywords = ocular (Clic here for more details about this article) |
3/113. hydroxychloroquine neuromyotoxicity.hydroxychloroquine (HCQ) is commonly prescribed for treatment of inflammatory arthritis. The most frequently observed serious side effect is retinal toxicity; however, case reports have described HCQ induced neuromyotoxicity. We describe a case of HCQ neuromyotoxicity and a literature review from 1965 to September 1998 using medline and Embase. Including our patient, there are 10 reported cases of HCQ neuromyotoxicity. Muscle biopsy consistently reveals curvilinear bodies and muscle fiber atrophy with vacuolar changes. Most cases manifest as insidious onset proximal myopathy that may be associated with peripheral neuropathy and cardiac myotoxicity. Resolution of symptoms is slow after discontinuation of therapy and may be incomplete. Possible predisposing factors include Caucasian race and concomitant renal failure. patients treated with HCQ who develop a proximal myopathy, cardiomyopathy, or neuropathy, especially in the setting of worsening renal function, should be evaluated for possible HCQ neuromyotoxicity.- - - - - - - - - - ranking = 0.17777052262748keywords = myopathy (Clic here for more details about this article) |
4/113. critical illness neuropathy.critical illness neuropathy frequently accompanies the septic syndrome in intensive care units. Another entity that may occur independently or concurrently in critically ill patients is a myopathy, giving rise to difficulties in distinguishing between them. The two patients described had sensorimotor axonal peripheral neuropathy. Axonopathy as a rule has a poor prognosis for recovery, which is slow and often incomplete. There are few reports of the functional outcome after rehabilitation therapy. The two patients described had 5-6 weeks of active rehabilitation therapy with improvement from moderate/severe disability at the onset to slight debility at the end of therapy.- - - - - - - - - - ranking = 0.059256840875828keywords = myopathy (Clic here for more details about this article) |
5/113. Hereditary motor and sensory neuropathy with minifascicle formation in a patient with 46XY pure gonadal dysgenesis: a new clinical entity.This case report is of a patient with 46XY pure gonadal dysgenesis, who presented with chronic progressive motor and sensory polyneuropathy. The sural nerve biopsy exhibited minifascicle formations accompanied by a marked decrease in myelinated fibers. This is the first report of polyneuropathy with minifascicle formations in 46XY pure gonadal dysgenesis. Because a similar polyneuropathy was recently reported in a case with 46XY partial gonadal dysgenesis, it is possible that these cases represent a new type of hereditary motor and sensory neuropathy associated with gonadal dysgenesis.- - - - - - - - - - ranking = 4.488878045356keywords = chronic progressive (Clic here for more details about this article) |
6/113. Selective hypertrophy of the cauda equina nerve roots.Two patients are described with a previously unreported hypertrophic radiculopathy of the cauda equina with preservation of peripheral nerve function. In one removal of an associated bronchial carcinoid tumour led to marked improvement in the neurological condition suggesting a paraneoplastic cause. The second patient later developed an external ophthalmoplegia but the underlying aetiology remains obscure.- - - - - - - - - - ranking = 0.10979345521824keywords = ophthalmoplegia (Clic here for more details about this article) |
7/113. Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation.BACKGROUND: Metachromatic leukodystrophy (MLD) is a genetic neurodegenerative disorder resulting from a deficiency of arylsulfatase A. Late onset forms are relatively rare. central nervous system (CNS) involvement is characteristic at all ages. methods: A patient in her late 40s with peripheral neuropathy was assessed by EEG, evoked potentials, CT and nerve conduction studies. Nerve and muscle biopsy samples were investigated by electron microscopy. Arylsulfatase A activity in leukocytes and excreted cerebroside sulfate were determined. The arylsulfatase A gene was investigated for mutations using polymerase chain reaction (PCR) and dna sequencing. The identified mutation was expressed transiently in African green monkey kidney (COS) cells to determine the effect of the mutation on arylsulfatase A activity. RESULTS: central nervous system functions were normal. Nerve conduction velocities were decreased. sural nerve biopsy showed inclusions typical of MLD. Arylsulfatase A was less than 5% of normal. A homozygous mutation thr286pro was identified in the arylsulfatase A gene and demonstrated to be deleterious through transient expression studies. CONCLUSIONS: Our patient has a progressive peripheral neuropathy but has apparently intact CNS function at her present age of 57 years. Biochemical, physiological and pathological findings are consistent with a diagnosis of MLD. A homozygous mutation, thr286pro, found in her arylsulfatase A gene, decreased enzyme activity to a level consistent with a late onset form of MLD.- - - - - - - - - - ranking = 0.1131950886455keywords = dystrophy (Clic here for more details about this article) |
8/113. Involvement of the central nervous system in miller fisher syndrome: a case report.miller fisher syndrome (MFS) is characterised by ophthalmoplegia, ataxia and areflexia. Reports on cerebellar ataxia and supranuclear oculomotor derangement in MFS suggested an additional involvement of the central nervous system (CNS), resembling Bickerstaff's brainstem encephalitis (BBE). In the present report, a patient with a monophasic acute illness, early recovery and specific clinical-laboratory findings suggested both intrinsic brainstem and peripheral nerve disease (MFS and BBE). In pons and medulla oblangata, blurred to discrete T2-lesions were revealed by cranial MRI, while involvement of peripheral nerves was detected with EMG. The CSF showed no increase in protein or cell content, such as occurs in brainstem encephalitis.- - - - - - - - - - ranking = 0.10979345521824keywords = ophthalmoplegia (Clic here for more details about this article) |
9/113. Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial dna deletion.The common 4977 base pair mitochondrial deletion has been identified in association with a number of distinct clinical phenotypes. These include the kearns-sayre syndrome, the Pearson marrow-pancreas syndrome, and chronic progressive external ophthalmoplegia. We report the clinical and pathological findings in two siblings in whom the 4977 base pair mitochondrial dna deletion was identified in muscle-derived mitochondrial dna. One sibling manifested early onset liver and renal failure, and both developed prominent peripheral sensorimotor neuropathy. These clinical findings have not been previously described in association with the 4977bp mtDNA deletion and thus represent a further expansion of the spectrum of mitochondrial disease.- - - - - - - - - - ranking = 4.5986715005742keywords = chronic progressive, ophthalmoplegia (Clic here for more details about this article) |
10/113. Diffuse large B-cell lymphoma with infiltration-associated peripheral neuropathy and paraneoplastic myopathy with a prolonged course over seven years.Rarely lymphoproliferative disorders (LPD) may be associated with peripheral neuropathy, based on different mechanisms of pathogenesis. Here, we report a case of a primary extranodal diffuse large B-cell lymphoma which showed a prolonged course with several recurrences manifesting as neuropathies, and long term remissions achieved by chemotherapy and involved field radiation. Repeated pathohistologic evaluations showed spread of lymphoma growth predominantly along nerve structures, suggesting neurotropism of the lymphoma cells.- - - - - - - - - - ranking = 0.23702736350331keywords = myopathy (Clic here for more details about this article) |
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