1/60. Kenny-Caffey syndrome: an Arab variant?We describe 2 unrelated Bedouin girls who met the criteria for the diagnosis of Kenny-Caffey syndrome. The girls had some unusual features--microcephaly and psychomotor retardation--that distinguish the Kenny-Caffey syndrome profile in Arab children from the classical Kenny-Caffey syndrome phenotype characterized by macrocephaly and normal intelligence. The 2 girls did not harbor the 22q11 microdeletion (the hallmark of the DiGeorge cluster of diseases) that we previously reported in another Bedouin family with the Kenny-Caffey syndrome (Sabry et al. J Med Genet 1998: 35(1): 31-36). This indicates considerable genetic heterogeneity for this syndrome. We also review previously reported 44 Arab/Bedouin patients with the same profile of hypoparathyroidism, short stature, seizures, mental retardation and microcephaly. Our results suggest that these patients represent an Arab variant of Kenny-Caffey syndrome with characteristic microcephaly and psychomotor retardation. We suggest that all patients with Kenny-Caffey syndrome should be investigated for the 22q11 microdeletion. Other possible genetic causes for the Kenny-Caffey syndrome or its Arab variant include chromosome 10p abnormalities.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
2/60. A novel mutation in the mitochondrial dna transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.A novel A7543G mutation was found in the mitochondrial dna transfer ribonucleic acidAsp gene in an 11-year-old girl with myoclonic seizures, developmental delay, and severe behavioral problems. Muscle histochemistry failed to show any ragged red fibers or cytochrome c oxidase-negative fibers, and muscle biochemistry showed partial cytochrome c oxidase deficiency. The mutation was heteroplasmic in muscle, fibroblasts, and blood from the patient and in blood from other affected family members, and the proportion of mutant mitochondrial dna correlated with the severity of symptoms.- - - - - - - - - - ranking = 9.1740825103647keywords = epilepsy, seizure (Clic here for more details about this article) |
3/60. Clinical and neuroradiological follow-up in mucopolysaccharidosis type III (Sanfilippo syndrome).Mucopolysaccharidosis type III (Sanfilippo syndrome) is an autosomal recessive disorder characterised by progressive nervous system involvement with mental retardation, behavioural problems and seizures. Three patients, of 20 months to 12 years of age, were followed up for 3 years both clinically and by using brain magnetic resonance imaging (MRI). Our results suggest that in MPS III patients MRI findings, including atrophy and abnormal or delayed myelination, may precede the onset of overt neurological symptoms. The increasing neurological morbidity is accompanied by different degrees of progressive atrophic changes, mainly affecting the cerebral cortex and the corpus callosum. However, it appears that, across subjects, the rate of MRI changes is unrelated to the severity of the clinical phenotype. On this basis it could be argued that in MPS III the worsening of the neurological symptoms might not necessarily reflect only the progressive cerebral abnormalities detectable by MRI.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
4/60. Psychogenic non-epileptic seizures: can we make a positive diagnosis?Many disorders other than epilepsy are characterized by paroxysmal events. Psychogenic non-epileptic seizures (NES) form one differential diagnostic group which mimic epileptic phenomena and are caused by various psychic disorders. The diagnosis of NES is mostly based on the exclusion of epilepsy. We review the histories of six patients, who were hospitalized in an epilepsy unit and were diagnosed as having psychogenic NES. Most of them had been previously given the diagnosis of epilepsy. It is suggested that for accurate diagnosis it is very important that a patient initially undergoes psychiatric assessment along with standard diagnostic procedures (e.g. neurologic, psychological and physical investigations), that may encourage making a positive diagnosis of non-epilepsy.- - - - - - - - - - ranking = 15.217603137956keywords = epilepsy, seizure (Clic here for more details about this article) |
5/60. Mental and psychomotoric retardation in two brothers with pure partial trisomy 7q32-q34 due to a maternal insertion (14;7).We present two brothers with mental retardation, seizures disorder, generalized muscular hypertonia, kyphoscoliosis, minor anomalies and a prominent midface. GTG-banded chromosome analysis showed a derivative chromosome 14 without clues toward the origin of the rearrangement. microdissection of the derivative chromosome 14 and subsequent reverse painting demonstrated partial trisomy 7q32-q34 as the unbalanced product of a maternal insertion (14;7). Thus, we identified two cases with pure trisomy 7q32-q34 that allowed further delineation of this aneusomy syndrome.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
6/60. dementia with impaired temporal glucose metabolism in late-onset metachromatic leukodystrophy.An unusual case of very-late-onset metachromatic leukodystrophy (MLD) with dementia was studied. The patient was a 41-year-old male who presented with mild dementia and a single generalized tonic clonic seizure. Neuropsychological assessment demonstrated mild amnesia, visuospatial dysfunction and attention deficits with a slow psychomotor speed. MR brain imaging displayed confluent hyperintensities of periventricular and subcortical white matter. Low levels of arylsulfatase A confirmed the diagnosis. Impaired cortical glucose metabolism especially of the medial temporal and frontal cortices was observed using positron emission tomography and fluor-18-labeled fluorodesoxyglucose. The neuropsychological deficits are related to the location of deficits in glucose metabolism.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
7/60. Clinical studies on cerebral schistosomiasis japonica in the philippines.The author examined the cerebral schistosomiasis japonica (CSJ) in the philippines which is one of the areas heavily infected with S. japonicum. Seventy-five subjects were selected randomly from 307 patients with CSJ, who showed neurological symptoms such as convulsions, paroxysmal disturbance of consciousness and hemiparesis. The mean age of the subjects was 33. Of the 71 patients who had paroxysmal disease, 54 had convulsions, in 33 of which it was of the Jacksonian type, and 24 had psychomotor seizures and 1 autonomic seizures. Thus, 58 patients or 82% of the paroxysmal disease group showed a sign of the localized lesion of the brain. Fifty-one patients (72%) of this group had attacks more than once a month, and the onset of the paroxysmal disease was later than 20 years old in 49 (69%). EEGs were judged as abnormal in 24 (32% of total subjects), borderline in 13 (17%) and normal in 38 (51%). The characteristic abnormal or borderline findings of EEG were random and paroxysmal slow waves with asymmetry. Discussion was made in reference to the strong suspicion that the cerebral symptoms of the subjects, the paroxysmal diseases in particular, were a syndrome associated with schistosoma japonicum and to the difference between CSJ in japan and that in the philippines.- - - - - - - - - - ranking = 2.7990805347901keywords = seizure, convulsion (Clic here for more details about this article) |
8/60. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids.Congenital microcephaly, intractable seizures and severe psychomotor retardation characterize 3-phosphoglycerate dehydrogenase (3-PGDH) deficiency, a disorder of L-serine biosynthesis. The enzyme defect results in low concentrations of serine and to a variable degree of glycine in plasma and cerebrospinal fluid. Short-term beneficial effects have been reported of oral treatment with the deficient amino acids. In this paper, we report the first follow-up data of amino acid therapy in five patients treated for 3-7.5 years. Different treatment regimes were used, but a favourable response to amino acids was observed in all patients. A major reduction in seizure frequency occurred in all patients; two patients became free of seizures. amino acids were well tolerated and no adverse effects were documented. A progress of psychomotor development was only observed in one patient, diagnosed early and treated with a high dosage of L-serine. A favourable outcome of 3-PGDH deficiency depends on early diagnosis and treatment.- - - - - - - - - - ranking = 7keywords = seizure (Clic here for more details about this article) |
9/60. Successful treatment of Ohtahara syndrome with chloral hydrate.We present a patient with early infantile epileptic encephalopathy with suppression bursts (Ohtahara syndrome) with an excellent response to chloral hydrate to draw attention to a possible role of the "old" drug in the treatment of intractable epilepsy. chloral hydrate (58 mg/kg/day) was used for a short-term administration in a 5-week-old female with typical features of cryptogenic Ohtahara syndrome after the failure of conventional antiepileptic drugs. seizures disappeared in the course of 24 hours after the launch of chloral hydrate therapy and have not recurred. Results of electroencephalogram studies of the child demonstrate marked improvement. Psychomotor development is significantly delayed. Detailed diagnostic tests have not revealed any metabolic or structural abnormalities of the brain. We conclude that chloral hydrate could be useful in the treatment of severe epileptic encephalopathies. Possible indications of the drug for intractable epilepsy treatment are discussed.- - - - - - - - - - ranking = 4.0870412551823keywords = epilepsy (Clic here for more details about this article) |
10/60. FISH and cytogenetic characterization of a terminal chromosome 1q deletion: clinical case report and phenotypic implications.We report a 24-year-old woman with minor facial anomalies, mental retardation, seizures, and partial agenesis of the corpus callosum. cytogenetic analysis showed a de novo terminal chromosome 1 long arm deletion. FISH with a panel of chromosome 1q42-qter bands-specific BAC and YAC clones located the breakpoint at the 1q42-q43 junction, with monosomy restricted to the 1q43 and 1q44 bands. The changing craniofacial phenotype of this patient with age is described as part of the del(1)(q) syndrome natural history. The patient's features are compared with those of other patients with similar deletions, and variable phenotypic findings due to different deleted chromosomal segments are discussed.- - - - - - - - - - ranking = 1keywords = seizure (Clic here for more details about this article) |
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