Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Leigh syndrome (also termed subacute, necrotizing encephalopathy) is a devastating neurodegenerative disorder, characterized by almost identical brain changes, e.g., focal, bilaterally symmetric lesions, particularly in the basal ganglia, thalamus, and brainstem, but with considerable clinical and genetic heterogeneity. Clinically, Leigh syndrome is characterized by a wide variety of abnormalities, from severe neurologic problems to a near absence of abnormalities. Most frequently the central nervous system is affected, with psychomotor retardation, seizures, nystagmus, ophthalmoparesis, optic atrophy, ataxia, dystonia, or respiratory failure. Some patients also present with peripheral nervous system involvement, including polyneuropathy or myopathy, or non-neurologic abnormalities, e.g., diabetes, short stature, hypertrichosis, cardiomyopathy, anemia, renal failure, vomiting, or diarrhea (Leigh-like syndrome). In the majority of cases, onset is in early childhood, but in a small number of cases, adults are affected. In the majority of cases, dysfunction of the respiratory chain (particularly complexes I, II, IV, or V), of coenzyme Q, or of the pyruvate dehydrogenase complex are responsible for the disease. Associated mutations affect genes of the mitochondrial or nuclear genome. Leigh syndrome and Leigh-like syndrome are the mitochondrial disorders with the largest genetic heterogeneity.
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PMID:Leigh and Leigh-like syndrome in children and adults. 1880 59

In contrast to the recommendations of the International Liga against Epilepsy, many hospitals perform routinely complete ophthalmological examinations in children admitted after a first seizure. As there is no study available to date to prove the benefit of complete eye examinations in first seizure diagnosis, we conducted a study to analyse the value of a complete ophthalmological examination. All children aged 1 month to 18 years who were admitted to the children's university hospital of Leipzig with the clinical diagnosis of a first convulsive or non-convulsive afebrile seizure between 1999 and August 2005 were investigated. All children who had obtained a complete ophthalmological examination within 72 h after the seizure were included in the observational study. A total of 310 children were analysed in the study. Two hundred thirty patients had a tonic-clonic afebrile seizure, the others focal, complex-partial seizures or absences. Two hundred seven out of 310 children showed no ophthalmological pathologies. Eighty-three children had refraction anomalies or strabism, 18 children had optic atrophy, three had congenital eye muscle paresis, and three had malformations. A 16-year-old girl had a homonymous quadrantanopia due to an occipital glioglioma that caused the seizure. An 11-year-old girl had a retinal haemorrhage without any brain lesions after a fall caused by a first tonic-clonic seizure. None of the ophthalmological findings influenced directly the immediate clinical course of diagnosis and treatment of the seizure. Our data suggest that routine ophthalmological examination in all children does not have additional benefit in the first seizure diagnosis management.
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PMID:Is there a need for ophthalmological examinations after a first seizure in paediatric patients? 1927 Dec 36

Pontocerebellar hypoplasia (PCH) is a heterogeneous group of disorders characterized by abnormally small cerebellum and brainstem. Recently a rare, novel form of PCH has been reported called cerebellar atrophy with progressive microcephaly (CLAM). Here we report a second family of CLAM with additional phenotypic features and novel molecular findings. Three-year old index patient had severe developmental delay and presented with short stature and microcephaly. Her cranial magnetic resonance imaging revealed hypoplasia of the cerebellum, brainstem and cerebrum associated with hypoplasia of the corpus callosum. Brainstem auditory evoked potentials revealed hearing loss and visual evoked potentials confirmed the optic atrophy. She also had seizures with two posterior epileptic foci on electroencephalogram. Molecular analysis revealed a homozygous haplotype between the markers D7S802 and D7S630 within the originally linked region, narrowing the critical region from 20 Mb to 7 Mb. Two highly relevant candidate genes, CROT and SLC25A40 located in this region were sequenced, but no causative mutations identified. Our case provides additional clinical characteristics on the previously described features of this new entity, and reducing the critical region will now allow systematic positional cloning efforts to identify the causative gene.
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PMID:Pontocerebellar hypoplasia type III (CLAM): extended phenotype and novel molecular findings. 1927 61

Leigh syndrome is a progressive neurodegenerative disorder occurring in infancy and childhood characterized in most cases by a psychomotor retardation, optic atrophy, ataxia, dystonia, failure to thrive, seizures and respiratory failure. In this study, we performed a systematic sequence analysis of mitochondrial genes associated with LS in Tunisian patients. We sequenced the encoded complex I units: ND2, ND3, ND4, ND5 and ND6 genes and the mitochondrial ATPase 6, tRNA(Val), tRNA(Leu(UUR)), tRNA(Trp) and tRNA(Lys) genes in 10 unrelated patients with Leigh syndrome. We revealed the presence of 34 reported polymorphisms, nine novel nucleotide variants and two new mutations (T5523G and A5559G) in the tested patients. These two mutations were localized in two conserved regions of the tRNA(Trp) and affect, respectively, the D-stem and the T-stem of the mitochondrial tRNA leading to a disruption of the secondary structure of this tRNA. SSP-PCR analysis showed that the T5523G and A5559G mutations were present with respective heteroplasmic rates of 66% and 43 %. We report here the first mutational screening of mitochondrial mutations in Tunisian patients with Leigh syndrome which described two novel mutations associated with this disorder.
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PMID:Two new mutations in the MT-TW gene leading to the disruption of the secondary structure of the tRNA(Trp) in patients with Leigh syndrome. 1934

Combined immunodeficiency (SCID) can be isolated and involve the immune system only or associated with abnormalities affecting other organs, mainly the skeletal and neurological systems. We report on sisters, born to consanguineous parents, with CID, facial dysmorphism, developmental delay, optic atrophy, myoclonic seizures, and skeletal anomalies. To the best of our knowledge, this is a hitherto new syndrome with most probably autosomal recessive inheritance and unknown etiology.
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PMID:Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome. 1986 61

We report the case of a 16-year-old boy diagnosed to have Sotos syndrome, with rare association of bilateral primary optic atrophy and epilepsy. He presented with accelerated linear growth, facial gestalt, distinctive facial features, seizures and progressive diminution of vision in both eyes. He had features of gigantism from early childhood. An MRI showed that brain and endocrine functions were normal. This case is of interest, as we have to be aware of this not so rare disorder. In addition to the classic features, there were two unusual associations with Sotos syndrome in the patient.
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PMID:Sotos syndrome: An interesting disorder with gigantism. 1989 68

We report the longitudinal history of a 48-year-old, right-handed woman with Rasmussen's encephalitis (RE) who presented with seizures and cerebral atrophy confined to the left hemisphere, as well as with bilateral uveitis, during her 21-year disease course. Neurological symptoms included recurrent partial seizures with secondary generalized convulsions, reduced visual acuity of the left eye with optic atrophy, right hemianopsia, right hemiplegia and aphasia. MRI T2-weighted images revealed progressive atrophy and high signal intensity lesions localized in the left cerebral hemisphere. An interictal electroencephalogram showed slowing of background activities to 4-7c/s and epileptiform discharges in the left hemisphere. Anti-glutamate receptor (GluR) epsilon2 IgG and IgM antibodies were detected in her serum. Our diagnosis was RE. Intravenous administration of high-dose methylpredonisolone immediately ameliorated her condition. Use of interferon beta-1b, as well as immunosuppressants, appeared to reduce seizure frequency, prevented exacerbation of her other central nervous system symptoms and slowed development of brain hemiatrophy. Her case is notable because it was complicated with bilateral uveitis and managed favorably by immunotherapy.
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PMID:Twenty-one-year course of adult-onset Rasmussen's encephalitis and bilateral uveitis: case report. 2044 55

Mutations of the BCS1L gene are a recognised cause of isolated respiratory chain complex III deficiency and underlie several fatal, neonatal mitochondrial diseases. Here we describe a 20-year-old Kenyan woman who initially presented as a floppy infant but whose condition progressed during childhood and adolescence with increasing muscle weakness, focal motor seizures and optic atrophy. Muscle biopsy demonstrated complex III deficiency and the pathogenicity of a novel, homozygous BCS1L mutation was confirmed by yeast complementation studies. Our data indicate that BCS1L mutations can cause a variable, neurological course which is not always fatal in childhood.
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PMID:Long-term survival of neonatal mitochondrial complex III deficiency associated with a novel BCS1L gene mutation. 2047 82

Degos disease, or malignant atrophic papulosis, is a rare vasculopathy of uncertain aetiology manifesting as a primary dermatological disorder in most cases, but with widespread systemic involvement developing in an undefined proportion of patients. Reported neurological features of Degos disease include ischaemic and haemorrhagic stroke, subdural effusion, seizures, neuropathy, transverse myelitis, and optic atrophy. The description of contrast enhancement of the leptomeninges possibly indicates a defect of blood vessel integrity likely explaining the pleiotropic neurological manifestations. Degos disease is usually considered a disorder of adulthood, although a small number of infantile cases have been described. Here, we report a female who demonstrated a neonatal onset of Degos disease, eventually showing the highly characteristic skin lesions together with ptosis and a generalized weakness as part of her systemic disorder. Subsequent exacerbations led to an inexorable neurodevelopmental and physical decline. CT scan revealed intracranial calcification, a feature described in two previous cases. Our report highlights the need to consider Degos disease in the differential diagnosis of childhood neurological disease with skin involvement.
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PMID:Infantile neurological Degos disease. 2065 9

Biotinidase deficiency is the primary enzymatic defect in biotin-responsive, late-onset multiple carboxylase deficiency. Untreated children with profound biotinidase deficiency usually exhibit neurological symptoms including lethargy, hypotonia, seizures, developmental delay, sensorineural hearing loss and optic atrophy; and cutaneous symptoms including skin rash, conjunctivitis and alopecia. Although the clinical features of the disorder markedly improve or are prevented with biotin supplementation, some symptoms, once they occur, such as developmental delay, hearing loss and optic atrophy, are usually irreversible. To prevent development of symptoms, the disorder is screened for in the newborn period in essentially all states and in many countries. In order to better understand many aspects of the pathophysiology of the disorder, we have developed a transgenic biotinidase-deficient mouse. The mouse has a null mutation that results in no detectable serum biotinidase activity or cross-reacting material to antibody prepared against biotinidase. When fed a biotin-deficient diet these mice develop neurological and cutaneous symptoms, carboxylase deficiency, mild hyperammonemia, and exhibit increased urinary excretion of 3-hydroxyisovaleric acid and biotin and biotin metabolites. The clinical features are reversed with biotin supplementation. This biotinidase-deficient animal can be used to study systematically many aspects of the disorder and the role of biotinidase, biotin and biocytin in normal and in enzyme-deficient states.
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PMID:Development and characterization of a mouse with profound biotinidase deficiency: a biotin-responsive neurocutaneous disorder. 2105 Dec 54


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