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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO) syndrome is a rare, apparently autosomal recessive condition in which characteristic dysmorphic features are associated with subcutaneous edema, visual deficit, early arrest of psychomotor development, seizures, and cerebellar atrophy. A condition similar to PEHO syndrome, but without the neuroradiologic or ophthalmologic signs, is known as PEHO-like syndrome. We present the case of a child with PEHO-like syndrome and underline the need for a careful follow-up of these patients to identify signs and symptoms that can have a later onset, such as optic atrophy.
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PMID:Progressive encephalopathy with edema, hypsarrhythmia, and optic nerve atrophy (PEHO)-like syndrome: what diagnostic characteristics are defining? 1596 34

This study aimed at reviewing cases presenting with optic atrophy at the eye clinic of the University College Hospital, Ibadan, Nigeria with a view to identifying some of the diagnostic problems. The study was a retrospective review of 100 cases selected by systematic random sampling method of a total of 6160 patients presenting with optic atrophy to the eye clinic over 6 years (April 1990 to March 1996). Diagnosis was based on ophthalmoscopic appearance of optic disc corroborated with visual field studies. The mean age of the patients was 40.8 years. The male to female ratio was 2:1 bilateral. Eighty percentages were bilateral, whereas 20% were unilateral. Only in 38% of cases could the cause of the optic atrophy be identified. The most frequently diagnosed were cranio-orbital neoplasms (8%), those referable to trauma (8%), hydrocephalus (7%), retinitis pigmentosa (3%) and post infectious (2%). Other causes include toxins, congenital, seizure disorders, birth asphyxia and papilloedema. In 62% of cases, the aetiology cannot be satisfactorily elicited. Some suggestions have been made to overcome some of these diagnostic problems.
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PMID:The aetiology of optic atrophy in Nigerians--a general hospital clinic study. 1603 18

Krabbe disease is a rare, recessively inherited degenerative disorder of myelin, caused by a deficiency of the lysosomal enzyme galactocerebroside beta-galactosidase. Ninety-five percent of cases begin in early infancy, typically presenting with irritability, hypertonicity, tonic spasms, visual loss with optic atrophy, and occasionally seizures. In 5% of cases, symptoms begin late, between 15 months and 10 years, usually presenting with spastic paralyses, cerebellar ataxia, visual failure, and peripheral neuropathy. Seizures occasionally develop months to years after symptom onset. In a review of 50 such cases from the world literature, in only two did seizures signal the onset. This report describes an 18-month-old male with late-onset Krabbe disease who is the first such reported patient presenting with myoclonic seizures, an epileptic encephalopathy normally thought to reflect gray matter disease.
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PMID:Myoclonic seizures in Krabbe disease: a unique presentation in late-onset type. 1687 17

The amino acid homocysteine (Hcy), formed from methionine has profound importance in health and diseases. In normal circumstances, it is converted to cysteine and partly remethylated to methionine with the help of vit B12 and folate. However, when normal metabolism is disturbed, due to deficiency of cystathionine-beta-synthase, which requires vit B6 for activation, Hcy is accumulated in the blood with an increase of methionine, resulting into mental retardation (homocystinuria type I). A decrease of cysteine may cause eye diseases, due to decrease in the synthesis of glutathione (antioxidant). In homocystinurias type II, III and IV, there is accumulation of Hcy, but a decrease of methionine, thus, there is no mental retardation. Homocysteinemia is found in Marfan syndrome, some cases of type I diabetes and is also linked to smoking and has genetic basis too. In hyperhomocysteinemias (HHcys), clinical manifestations are mental retardation and seizures (type I only), ectopia lentis, secondary glaucoma, optic atrophy, retinal detachment, skeletal abnormalities, osteoporosis, vascular changes, neurological dysfunction and psychiatric symptoms. Thrombotic and cardiovascular diseases may also be encountered. The harmful effects of homocysteinemias are due to (i) production of oxidants (reactive oxygen species) generated during oxidation of Hcy to homocystine and disulphides in the blood. These could oxidize membrane lipids and proteins. (ii) Hcy can react with proteins with their thiols and form disulphides (thiolation), (iii) it can also be converted to highly reactive thiolactone which could react with the proteins forming -NH-CO- adducts, thus affecting the body proteins and enzymes. Homocystinuria type I is very rare (1 in 12 lakhs only) and is treated with supplementation of vit B6 and cystine. Others are more common and are treated with folate, vit B12 and in selected cases as in methionine synthase deficiency, methionine, avoiding excess. In this review, the role of elevated Hcy levels in cardiovascular, ocular, neurologial and other diseases and the possible therapeutic measures, in addition to the molecular mechanisms involved in deleterious manifestations of homocysteinemia, have been discussed.
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PMID:Biochemistry of homocysteine in health and diseases. 1713 33

There is paucity of studies on predictors of long-term sequelae of tuberculous meningitis (TBM). We report the neurological sequelae of TBM at 1 year and their predictors. Patients with TBM who were followed up for 1 year were included. The diagnosis of TBM was based on clinical, cerebrospinal fluid (CSF) and computed tomography (CT) scan findings. Detailed neurological examinations at admission and at 1 year were carried out. All the patients received four-drug antitubercular therapy. The frequency of sequelae at 1 year were noted and the role of various demographic (age, sex, duration of illness, BCG vaccination), clinical (weakness, seizure, extra central nervous system tuberculosis, Glasgow Coma Scale (GCS) score, cranial nerve palsy, stage, corticosteroid, drug-induced hepatitis, shunt surgery), and laboratory findings (erythrocyte sedimentation rate (ESR), CSF cell and protein, CT scan evidences of hydrocephalus, basal exudates, infarctions and tuberculoma) at presentation were evaluated employing logistic regression analysis. Sixty-five patients with TBM were included in this study whose age ranged between 13 and 80 years (mean 33.2), 27 of whom were females. Complete neurological recovery at 1 year occurred in 21.5% patients only although about 50% were independent for activities of daily living. Neurological sequelae were observed in 78.5% patients, which included cognitive impairment in 55%, motor deficit in 40%, optic atrophy in 37% and other cranial nerve palsy in 23%. On logistic regression analysis, focal motor deficit at admission was the most important predictor of neurologic deficits at 1 year. GCS score predicted the cognitive and motor sequelae. Neurological sequelae at year occurred in 78.5% patients with TBM in the form of cognitive impairment, motor deficit and optic atrophy. Sequelae were common in patients who had focal motor deficit and altered sensorium at admission.
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PMID:Predictors of long-term neurological sequelae of tuberculous meningitis: a multivariate analysis. 1722 10

Canavan disease is an autosomal recessive leukodystrophy characterized by excessive excretion of N-acetylaspartic acid (NAA) in urine. The disease is caused by deficiency of aspartoacylase, the enzyme responsible for the hydrolysis of NAA into acetate and l-aspartate. Patients, who are often asymptomatic in their early months, show a wide spectrum of clinical presentation thereafter that includes macrocephaly, poor head control, seizures, abnormal muscle tone, optic atrophy, significant developmental delay and death. In this work, we describe a simple liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for the determination of NAA in urine. The internal standard d3-NAA was added to untreated urine and the mixture was injected into the LC-MS/MS system operated in the negative ion mode. Detection was achieved in multiple reaction monitoring (MRM) mode by monitoring m/z 174 --> 88, 174 --> 130 and 174 --> 58 for NAA and 177 --> 89 for the internal standard. Separation was carried out on a C8 column (2.1 x 150 mm) using a mixture of acetonitrile and water (1:1 v/v) containing 0.05% formic acid at a flow rate of 0.25 ml/min. NAA was eluted at 1.6 min and the run time was approximately 2 min. Using spiked urine, the assay was linear up to 2 mmol/L with limit of quantification at 1 micromol/L (S/N = 12). NAA in patients' urine (n = 17) ranged between 366 and 21,235 mmol/mol creatinine compared to controls of <39 mmol/mol creatinine (n = 159). This LC-MS/MS method for NAA as described involved no extraction and no derivatization, showed no interference, and gave excellent recovery with low variability and short analytical time.
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PMID:Quantification of N-acetylaspartic acid in urine by LC-MS/MS for the diagnosis of Canavan disease. 1763 91

DOOR syndrome (deafness, onychodystrophy, osteodystrophy, and mental retardation) is a rarely described disorder with less than 35 reports in the literature. The hallmarks of the syndrome, represented in the DOOR acronym, include sensorineural hearing loss, hypoplastic or absent nails on the hands and feet, small or absent distal phalanges of the hands and feet, and mental retardation. The purpose of our communication is to report on an additional patient with DOOR syndrome, delineate common as well as less frequent manifestations of DOOR syndrome, bring attention to the under appreciated facial features in DOOR syndrome, document the natural history of this disorder, and propose a suggested workup of those suspected of DOOR syndrome. DOOR syndrome is associated with characteristic, coarse facial features with large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth. The natural history is one of a deteriorative course, with progressive neurological manifestations including sensorineural deafness, seizures from infancy, optic atrophy, and a peripheral polyneuropathy. The majority of patients with DOOR syndrome have elevated levels of 2-oxoglutarate in the urine and plasma. In this report, we present a newborn with manifestations consistent with DOOR syndrome and a progressive clinical course. A comprehensive literature review reveals 32 patients with DOOR syndrome. In conclusion, DOOR syndrome is a neurometabolic disorder with recognizable facial features and a progressive natural history.
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PMID:DOOR syndrome: clinical report, literature review and discussion of natural history. 1799 65

Thrombosis of the dural sinus and encephalic veins (CVT) is an infrequent condition accounting for less than 1% of all strokes. Several recent prospective series, in particular the large International Study on Cerebral Vein and Dural Sinus Thrombosis cohort, definitely have shown a more benign prognosis compared with that of arterial strokes: CVT has an acute case fatality of less than 5%, and almost 80% of patients recover without sequelae. However, patients surviving the acute phase of CVT are at risk of a number of complications such as recurrence of any thrombotic events in about 7%, recurrence of CVT in about 2-12%, seizures in 5 to 32%, visual loss due to optic atrophy in percentages that range from less than 1 to 5%, presence of dural fistula (there are no data available about exact frequency) and neuropsychological and neuropsychiatric sequelae characterized by aphasia, abulia and depression. However, there is only little information on the long-term neuropsychological outcome. Studies investigating professional status, cognitive performance, depressive symptoms and quality of life evidenced depression and anxiety in 2/3 of CVT patients despite an apparent good recovery in 87% of these patients. Thus, patients should be encouraged to return to previous occupations and hobbies and reassured about the very low risk of recurrence.
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PMID:Complications of cerebral vein and sinus thrombosis. 1800 61

Numerous numbers of pre-, peri- and postnatal damages cause West syndrome in early infancy, however, etiology in many cases are not still elucidated despite intensive biochemical and neuroradiologic investigations. We described four patients having early onset epileptic encephalopathy with severe hypomyelination and reduction in cerebral white matter. The clinical symptoms of these patients are impaired visual attention, acquired microcephaly, spastic tetraplegia, profound psychomotor delay and infantile spasms since early infancy. All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI. Serial MRI investigations in three patients showed absence of myelination of the white matter. On EEG, one patient revealed suppression-burst and other three had hypsarrhythmia. Despite having intractable seizures, no patient showed deterioration of neurological development. The group of these findings is mimicking to clinical manifestations of 3-phosphoglycerate dehydrogenase deficiency, and has some overlap with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) like syndrome, however it is not compatible with these two conditions. The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome.
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PMID:Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter. 1806 76

MERRF is an acronym of myoclonus epilepsy associated with ragged-red fibers and was first reported as a new nosological entity belonging to mitochondrial encephalomyopathies in San Remo symposium on "Mitochondrial Pathology" in 1982. MERRF was named Fukuhara disease by Rowland (1983). The first reported patient had been diagnosed as having Ramsay Hunt syndrome associated with Friedreich's ataxia. However, nowadays, the previously reported cases as having Ramsay Hunt syndrome associated with Friedreich's ataxia are regarded as having been suffered from MERRF. The history in establishing the nosological entity of MERRF was described. Patients with MERRF develop myoclonus, epileptic seizures, cerebellar ataxia, dementia, sensorineural hearing disturbance, optic atrophy, muscular wasting, and foot deformities at the advanced stage. Pathological findings show degeneration of the dentate nuclei, globus pallidus, and red nuclei, substantia nigra, inferior olivary nuclei, cerebellar cortex, and spinal cord. The posterior columns, the spinocerebellar tracts, and Clark's columns are degenerating in the spinal cord. The pyramidal tracts never show a severe degeneration as in Friedreich's ataxia. The skeletal muscles show mitochondrial abnormalities histologically and electron microscopically. Clinical features of MERRF are not necessarily uniform in the early stage and muscle biopsy findings are also very mild in some patients with MERRF, necessitating genetic analysis for diagnosis. Most of patients show a point mutation (A --> G) of nt 8344 in mitochondrial DNA.
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PMID:[Fukuhara disease]. 1823 33


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