Assuntos
Oxirredutases do Álcool/deficiência , Oxirredutases do Álcool/genética , Doenças Cerebelares/enzimologia , Doenças Cerebelares/genética , Lisina/administração & dosagem , Mutação , Adulto , Encéfalo/enzimologia , Encéfalo/patologia , Encéfalo/fisiopatologia , Doenças Cerebelares/dietoterapia , Doenças Cerebelares/fisiopatologia , Transtornos Cognitivos/etiologia , Progressão da Doença , Feminino , Humanos , Imageamento por Ressonância Magnética , Movimentos Sacádicos/genética , Tremor/etiologiaRESUMO
In this article we report on two patients with arachnoid cysts previously treated by shunt implantation presenting with clinical signs of an increased intracranial pressure i. e., papilledema, headache and nausea. Repeated MRI scans showed no alteration of the cerebrospinal fluid circulation and no space-occupying effect of the cysts. Although neuroimaging showed no signs of increased intracranial pressure, neurosurgical exploration was performed and revealed a distinctly increased pressure in both arachnoid cysts. After replacement of the shunt a prompt reduction of papilledema and relief of symptoms was observed.
Assuntos
Cistos Aracnóideos/cirurgia , Derivações do Líquido Cefalorraquidiano/efeitos adversos , Hipertensão Intracraniana/etiologia , Adolescente , Cistos Aracnóideos/complicações , Cistos Aracnóideos/patologia , Criança , Humanos , Hipertensão Intracraniana/patologia , Imageamento por Ressonância Magnética , MasculinoRESUMO
Pallister-Killian syndrome (PKS; OMIM: # 601803) is a rare sporadic syndrome of multiple congenital anomalies attributable to the presence of a de novo mosaic supernumerary isochromosome 12p [i(12p)]. The syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia, and coarsening of the facial features), and developmental delay. The developmental phenotype of PKS is quite variable, but most are considered to fall into the profound range of developmental retardation. We report on two individuals with classical features of PKS. Notably, in one child the neuropsychological development was significantly more favourable than commonly reported in the literature. This illustrates the loose correlation between geno- and phenotype in PKS.
Assuntos
Anormalidades Múltiplas/genética , Aneuploidia , Aberrações Cromossômicas , Cromossomos Humanos Par 12/genética , Deficiência Intelectual/genética , Mosaicismo , Anormalidades Múltiplas/diagnóstico , Criança , Bandeamento Cromossômico , Feminino , Genótipo , Humanos , Hibridização in Situ Fluorescente , Lactente , Deficiência Intelectual/diagnóstico , Isocromossomos , Cariotipagem , Masculino , Fenótipo , SíndromeRESUMO
PURPOSE: To identify the biochemical and molecular genetic defect in a 16-year-old patient presenting with apical hypertrophic cardiomyopathy and neuropathy suspected for a mitochondrial disorder. METHODS: Measurement of the mitochondrial energy-generating system (MEGS) capacity in muscle and enzyme analysis in muscle and fibroblasts were performed. Relevant parts of the mitochondrial DNA were analysed by sequencing. Transmitochondrial cybrids were obtained by fusion of 143B206 TK(-) rho zero cells with patient-derived enucleated fibroblasts. Immunoblotting techniques were applied to study the complex V assembly. RESULTS: A homoplasmic nonsense mutation m.8529G-->A (p.Trp55X) was found in the mitochondrial ATP8 gene in the patient's fibroblasts and muscle tissue. Reduced complex V activity was measured in the patient's fibroblasts and muscle tissue, and was confirmed in cybrid clones containing patient-derived mitochondrial DNA. Immunoblotting after blue native polyacrylamide gel electrophoresis showed a lack of holocomplex V and increased amounts of mitochondrial ATP synthase subcomplexes. An in-gel activity assay of ATP hydrolysis showed activity of free F(1)-ATPase in the patient's muscle tissue and in the cybrid clones. CONCLUSION: We describe the first pathogenic mutation in the mitochondrial ATP8 gene, resulting in an improper assembly and reduced activity of the complex V holoenzyme.
Assuntos
Cardiomiopatia Hipertrófica/enzimologia , Cardiomiopatia Hipertrófica/genética , Códon sem Sentido , Genes Mitocondriais , ATPases Mitocondriais Próton-Translocadoras/deficiência , ATPases Mitocondriais Próton-Translocadoras/genética , Doenças do Sistema Nervoso/enzimologia , Doenças do Sistema Nervoso/genética , Adolescente , Sequência de Aminoácidos , Sequência de Bases , Primers do DNA/genética , Humanos , Células Híbridas , Masculino , Doenças Mitocondriais/enzimologia , Doenças Mitocondriais/genética , ATPases Mitocondriais Próton-Translocadoras/química , Dados de Sequência Molecular , Homologia de Sequência de AminoácidosRESUMO
There is an ongoing debate as to whether propofol exhibits pro- or anticonvulsant effects, and whether it should be used in patients with epilepsy. We prospectively assessed the occurrence of seizure-like phenomena and the effects of intravenous propofol on the electroencephalogram (EEG) in 25 children with epilepsy (mean (SD) age: 101 (49) months) and 25 children with learning difficulties (mean (SD) age: 52 (40) months) undergoing elective sedation for MRI studies of the brain. No child demonstrated seizure-like phenomena of epileptic origin during and after propofol sedation. Immediately after stopping propofol, characteristic EEG changes in the epilepsy group consisted of increased beta wave activity (23/25 children), and suppression of pre-existing theta rhythms (11/16 children). In addition, 16 of 18 children with epilepsy and documented EEG seizure activity demonstrated suppression of spike-wave patterns after propofol sedation. In all 25 children with learning difficulties an increase in beta wave activity was seen. Suppression of theta rhythms occurred in 11 of 12 children at the end of the MRI study. In no child of either group was a primary occurrence or an increase in spike-wave patterns seen following propofol administration. The occurrence of beta wave activity (children with learning difficulties and epilepsy group) and suppression of spike-wave patterns (epilepsy group) were transient, and disappeared after 4 h. This study demonstrates characteristic, time-dependent EEG patterns induced by propofol in children with epilepsy and learning difficulties. Our data support the concept of propofol being a sedative-hypnotic agent with anticonvulsant properties as shown by depression of spike-wave patterns in children with epilepsy and by the absence of seizure-like phenomena of epileptic origin.
Assuntos
Anticonvulsivantes/administração & dosagem , Epilepsia/tratamento farmacológico , Deficiências da Aprendizagem/tratamento farmacológico , Propofol/administração & dosagem , Adolescente , Anticonvulsivantes/efeitos adversos , Criança , Pré-Escolar , Esquema de Medicação , Eletroencefalografia/métodos , Epilepsia/fisiopatologia , Feminino , Humanos , Hipnóticos e Sedativos/administração & dosagem , Hipnóticos e Sedativos/efeitos adversos , Lactente , Deficiências da Aprendizagem/fisiopatologia , Masculino , Propofol/efeitos adversos , Estudos Prospectivos , Convulsões/fisiopatologia , Convulsões/prevenção & controleRESUMO
Three rare autosomal recessive disorders share the combination of congenital muscular dystrophy and brain malformations including a neuronal migration defect: muscle-eye-brain disease (MEB), Walker-Warburg syndrome (WWS), and Fukuyama congenital muscular dystrophy (FCMD). In addition, ocular abnormalities are a constant feature in MEB and WWS. We report on two brothers with MEB. The clinical and radiological characteristics are demonstrated.
Assuntos
Encéfalo/anormalidades , Oftalmopatias Hereditárias/genética , Genes Recessivos , Distrofias Musculares/genética , Encéfalo/patologia , Pré-Escolar , Mapeamento Cromossômico , Diagnóstico Diferencial , Eletromiografia , Éxons , Oftalmopatias Hereditárias/diagnóstico , Triagem de Portadores Genéticos , Humanos , Hidrocefalia/diagnóstico , Hidrocefalia/genética , Lactente , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Hipotonia Muscular/diagnóstico , Hipotonia Muscular/genética , Distrofias Musculares/diagnóstico , N-Acetilglucosaminiltransferases/genética , Mutação PuntualRESUMO
Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed.