1/14. seizures as a presenting feature of late onset metachromatic leukodystrophy.OBJECTIVES: We describe 2 patients with epilepsy as an early manifestation of late onset metachromatic leukodystrophy (MLD). methods AND RESULTS: The first patient presented with epileptic seizures at the age of 34 years while neurological and cognitive abnormalities appeared later. MRI findings were compatible with leukodystrophy and low levels of arylsulphatase-A activity confirmed MLD. The second patient developed epileptic seizures and behavioral disturbances at the age of 19 years. She remained stable and seizure free for 8 years. Afterwards she developed uncontrolled epileptic seizures and status epilepticus as well as neurological and cognitive impairment. Leukodystrophy was diagnosed by MRI findings and low levels of arylsulphatase-A activity were compatible with MLD. CONCLUSION: Our 2 cases postulate that epileptic seizures may be an early and prominent manifestation of late onset MLD.- - - - - - - - - - ranking = 1keywords = dystrophy (Clic here for more details about this article) |
2/14. Ictal and nonictal paroxysmal events in infantile neuroaxonal dystrophy: polygraphic study of a case.A 7.5-year-old girl, with infantile neuroaxonal dystrophy (INAD), showed a gradual deterioration from 16 months; at age 5 years she was bedridden, with severe tetraplegia, strabismus, nystagmus and optic atrophy, and dementia. From age 5.5 years, she had paroxysmal tonic events. Videopolygraphic recordings disclosed two different kinds of motor events: (a) epileptic tonic seizures, in wakefulness and sleep, associated with autonomic changes and ictal EEG discharges; and (b) nonepileptic prolonged clusters of brief tonic spasms, without ictal modifications of the EEG. Both motor events were characterized by a minimal and clinically similar tonic contraction of the upper extremities. Video-polygraphic studies are mandatory for a correct paroxysmal event classification and treatment in INAD patients.- - - - - - - - - - ranking = 0.71428571428571keywords = dystrophy (Clic here for more details about this article) |
3/14. Congenital ocular motor apraxia associated with idiopathic generalized epilepsy in monozygotic twins.Identical female twins (age 11 years) with congenital ocular motor apraxia and generalized idiopathic epilepsy are reported. Their presenting symptoms were a long history of abnormal head and eye movements. One twin developed partial sensory seizures. The patients underwent 16-channel EEG, electro-oculographic recordings, MRI of the brain, and genetic and metabolic investigations. EEG findings were consistent with idiopathic generalized epilepsy. Electrooculographic recordings of the saccades confirmed an inability to elicit horizontal saccades without preceding head movement; saccades to the left were better than saccades to the right. MR scans for one twin showed normal findings, however, for the twin who had meningitis they revealed asymmetry between the right and left temporal lobes but no specific abnormality. dna analysis using a series of autosomal polymorphic markers confirmed the monozygocity of the twins. White blood cell enzyme analysis excluded sandhoff disease, tay-sachs disease, GM1 gangliosidosis, metacromatic leucodystrophy, gaucher disease, Niemann-Pick disease (A and B), and Krabbe leucodystrophy. Albumin and immunoglobulin (IgA, IgG, and IgM) levels were normal. It is concluded that autosomal recessive inheritance seems the most likely explanation here, as recent studies have found insertion and missense mutations of the aprataxin gene which have been related to an early onset form of ataxia with ocular motor apraxia and hypoalbuminaemia.- - - - - - - - - - ranking = 0.28571428571429keywords = dystrophy (Clic here for more details about this article) |
4/14. epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?Autosomal recessive limb girdle muscular dystrophies (LGMD) type 2A are a group of disorders characterised by progressive involvement of proximal limb girdle muscles and caused by changes in the CAPN3 gene. Involvement of tissues other than the skeletal muscle has not been reported so far. Here we describe the unusual association of LGMD2A and idiopathic generalised epilepsy in a 14-year-old girl.- - - - - - - - - - ranking = 6.5917250227155keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/14. Facioscapulohumeral muscular dystrophy can be a cause of isolated childhood cognitive dysfunction.Facioscapulohumeral muscular dystrophy is one of the most prevalent muscular dystrophies in the world, resulting from the deletion of tandem repeats on chromosome 4q35. Extramuscular associations include sensorineural hearing loss, mental retardation, and epilepsy. These manifestations are commonly found in those with large deletions and early onset of weakness. A 26-year-old patient with a long-standing history of hearing loss, learning disabilities, and epilepsy presented with new-onset weakness and an elevated serum creatinine kinase level. genetic testing confirmed sporadic facioscapulohumeral muscular dystrophy with a fragment length of 12 kilobases (normal > 35 kilobases). This unique presentation suggests that facioscapulohumeral muscular dystrophy should be considered in the differential diagnosis of children with cognitive impairment, seizures, and hearing loss.- - - - - - - - - - ranking = 174.8988043757keywords = facioscapulohumeral muscular dystrophy, facioscapulohumeral, muscular dystrophy, dystrophy (Clic here for more details about this article) |
6/14. Severe fascioscapulohumeral muscular dystrophy presenting with Coats' disease and mental retardation.We describe two Norwegian children with fascioscapulohumeral muscular dystrophy in whom Coats' disease, deafness, mental retardation and possible epilepsy were the presenting features. The children have a 4q35 deletion giving a small residual repeat fragment that they have inherited from their father who is a mosaic. Fundal changes consistent with bilateral Coats' disease were found in both children. The rapid development of neovascular glaucoma necessitated removal of an eye from one child that on pathological examination showed the classical features of Coats' disease. cryotherapy was successful in maintaining sight in the other affected eyes.- - - - - - - - - - ranking = 8.2396562783944keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
7/14. White matter abnormalities in congenital muscular dystrophy.central nervous system (CNS) characteristics were examined in seventeen patients with autosomal recessive classic or "pure" congenital muscular dystrophy (CMD). In three patients, neuroradiological examination (CT/MRI) indicated hypodense white matter areas. Two out of these three patients had epilepsy (seizures and epileptic discharges on their EEG). Only two of the remaining patients had epileptic EEG discharges, but without clinical seizures. By comparing our results to data in the literature, we could conclude that the classic or "pure" form of CMD can be subdivided into two subtypes, i.e. those with and those without white matter hypodensities. A mild form of epilepsy or an epileptic predisposition on EEG can be part of the subtype with white matter hypodensities.- - - - - - - - - - ranking = 8.2396562783944keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
8/14. Late onset globoid cell leukodystrophy (Krabbe's disease)--Swedish case with 15 years of follow-up.We describe a male patient with late onset globoid cell leukodystrophy (GLD) (Krabbe's disease) still alive at 24 years of age, with a well preserved intellectual and communicative capacity, in contrast to visual failure and severe central pyramidal and extrapyramidal motor disability with spasticity, dystonia, ataxia and peripheral neuropathy. Visual dysfunction began at 4 years of age, limping and balance problems at 8 years and epilepsy at 14 years of age. neuroimaging at 15 years of age revealed white matter lesions, and nerve conduction velocity examinations showed a slowly developing polyneuropathy. galactosylceramidase activity was reduced in leukocytes to 0.07 mu kat/kg protein compared with 0.02 (SD 0.01) mu kat/kg protein in infantile GLD.- - - - - - - - - - ranking = 0.71428571428571keywords = dystrophy (Clic here for more details about this article) |
9/14. Ictal video-EEG analysis of infantile neuroaxonal dystrophy.A 4-year-old boy with infantile neuroaxonal dystrophy (INAD) showed gradual deterioration from age 9 months with seizure development at age approximately 36 months. sural nerve biopsy performed at age 42 months confirmed INAD. The seizure, recorded by video-EEG, consisted of a series of symmetrical tonic spasms of both upper extremities after a prodrome period of staring and akinesis. Each spasm had phonation, and episodic autonomic symptoms such as hypertension and flushing of the face occurred throughout the seizure. Ictal EEG with each tonic spasm, showed diffuse 1-s, irregular sharp and high-voltage slow wave complexes followed by desynchronization.- - - - - - - - - - ranking = 0.71428571428571keywords = dystrophy (Clic here for more details about this article) |
10/14. reflex sympathetic dystrophy associated with antiepileptic drugs.reflex sympathetic dystrophy syndrome (RSDS) complicating antiepileptic drug (AED) therapy is not well acknowledged in the neurologic literature. We report 4 patients with reflex sympathetic dystrophy that occurred while they were receiving AEDs. All patients had shoulder and hand involvement, which in 2 was bilateral, and 1 had ipsilateral foot involvement. Two patients did not respond to a change in AEDs, but all improved with a course of prednisone. One patient with phenobarbital (PB)-associated RSDS relapsed on inadvertent rechallenge with secobarbital. A review of the literature showed that several other fibrosing disorders are associated with AED administration, including Dupuytren's contractures, frozen shoulder, plantar and hand nodules, and Peyronie's disease. RSD associated with AEDs is important to recognize because it may result in permanent disability if treatment is delayed.- - - - - - - - - - ranking = 0.85714285714286keywords = dystrophy (Clic here for more details about this article) |
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