RESUMO
Troyer Syndrome (TRS) is a rare autosomal recessive complicated spastic paraplegia disorder characterized by various neurological and musculoskeletal manifestations. Pathogenicity stems from mutations in SPG20 which encodes Spartin, a multifunctional protein that is thought to be essential for neuron viability. Here we report on the clinical and molecular characterization of TRS in five patients from an extended consanguineous family in the United Arab Emirates. Molecular analysis involved Whole Exome Sequencing and Sanger sequencing for identification and confirmation of the causative variant respectively. In silico tools including CADD and Polyphen-2 were used to assess pathogenicity of the variant. The clinical description of these patients included spastic paraparesis, motor and cognitive delay, gait abnormalities, musculoskeletal features, as well as white matter abnormalities and emotional liability. Molecular analysis revealed a novel homozygous missense mutation in SPG20 (c.1324G > C; p.Ala442Pro) occurring at an evolutionarily conserved residue in the Plant-Related Senescence domain of Spartin. The mutation segregated with the clinical phenotype in all patients. In silico algorithms predict the mutation to be disease causing, and the variant had not been previously reported in public or ethnic specific variant repositories.
Assuntos
Mutação , Proteínas/genética , Paraplegia Espástica Hereditária/genética , Adolescente , Proteínas de Ciclo Celular , Criança , Pré-Escolar , Feminino , Humanos , Masculino , LinhagemRESUMO
The authors report on seven patients, six males and one female, with Joubert's syndrome who underwent developmental evaluation, neurologic and ophthalmologic examinations, and magnetic resonance imaging of the brain. All patients had severe developmental delay, hypotonia, impairment of smooth visual pursuit, and saccadic eye movements. Six had jerky eye movements and ptosis was observed in two patients and retinal dystrophy in one. The posterior lobe of the vermis was absent in all patients and the small rudimentary anterior lobe lacked fusion in the midline, with cleft formation in five patients. Malformation of the pontomesencephalic junction, with prominent superior cerebellar peduncles and deep interpeduncular fossa, was observed in all patients. Abnormal cerebellar-brainstem and cerebellocortical connections because of the lack of the posterior vermis and dysplasia of the deep cerebellar nuclei might be responsible for the abnormal eye movements and retarded development in Joubert's syndrome. Correlation between radiologic findings and clinical symptoms and the possible role of abnormal patterning of the midbrain-hindbrain by homeotic genes during embryonic development are reviewed.
Assuntos
Anormalidades Múltiplas/genética , Encefalopatias/diagnóstico , Encefalopatias/genética , Encéfalo/anormalidades , Adolescente , Criança , Pré-Escolar , Consanguinidade , Deficiências do Desenvolvimento/diagnóstico , Feminino , Genes Homeobox/genética , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Mesencéfalo/embriologia , Transtornos da Motilidade Ocular/genética , Transtornos da Motilidade Ocular/fisiopatologia , Rombencéfalo/embriologia , SíndromeRESUMO
A 7-year-old male admitted with neck rigidity, severe pain in the abdomen, and progressive weakness in the lower limbs was diagnosed as having a spinal intramedullary arachnoid cyst. There was a dramatic and immediate recovery after fenestration of the cyst.
Assuntos
Dor Abdominal/etiologia , Cistos Aracnóideos/complicações , Debilidade Muscular/etiologia , Doenças da Medula Espinal/complicações , Criança , Humanos , Perna (Membro) , Masculino , Rigidez Muscular/etiologia , Pescoço , Compressão da Medula Espinal/etiologiaAssuntos
Endocardite/microbiologia , Infecções Meningocócicas/microbiologia , Neisseria meningitidis/patogenicidade , Sepse/etiologia , Infecções Estafilocócicas/microbiologia , Pré-Escolar , Feminino , Humanos , Infecções Meningocócicas/complicações , Insuficiência da Valva Mitral/etiologia , Sepse/microbiologia , Sepse/fisiopatologia , Dermatopatias/microbiologia , Infecções Estafilocócicas/complicações , Staphylococcus aureus/patogenicidadeRESUMO
Sixteen cases of external hydrocephalus (EH) were seen from January 1993 to June 1995. There were 13 (81 per cent) male and three female children. Fourteen (88 per cent) were under 12 months of age. Three siblings with EH were seen in one family. All, but three recovered over time without medical or surgical intervention. These three needed cerebral decongestants in the acute phase. This is the first report of EH from Oman.
Assuntos
Hidrocefalia , Cefalometria , Pré-Escolar , Feminino , Seguimentos , Humanos , Hidrocefalia/complicações , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/epidemiologia , Lactente , Recém-Nascido , Masculino , Omã/epidemiologia , Prognóstico , Tomografia Computadorizada por Raios XRESUMO
Twenty seven children with intractable seizures in the age group of 5 months - 14 years were treated with vigabatrin (VGB) and Lamotrigene (LTG) as an add-on therapy. Fourteen children (6M:8F) were given VGB and thirteen children (9M:4F) received LTG. The drug selection was made according to the type of seizures and associated neurological abnormalities. Attempt was made to exclude children with progressive neurologic disorders or severe systemic disease. EEG, CT scan head and relevant metabolic work up was done in all. VGB was found to be most effective in seizures associated with tuberous sclerosis. It was always useful in infantile spasm (IS) and tonic clonic (TC) seizures. LTG was effective in complex partial seizure (CPS) and TC seizures withmyoclonus.
RESUMO
In a tertiary referral centre, midazolam infusion was tried as treatment for 20 children with status epilepticus over a period of two years. The mean age of the children was 4.07 years. Twelve children with refractory status epilepticus had received intravenous or per rectal diazepam and intravenous phenytoin/ phenobarbitone or both before midazolam was given (0.15 mg/kg bolus followed by 1-5 micrograms/kg/min infusion). Eight children required only midazolam to control the established status epilepticus. The seizures were controlled in 19 children. The mean time required for complete cessation of seizures was 0.9 hours. The mean infusion rate required was 2.0 micrograms/kg/min. All children had regained full consciousness by a mean of 5.1 hours after discontinuation of midazolam treatment. No metabolic derangement or compromise of vital functions was noted in any of the children. Midazolam infusion is thus an effective and safe therapeutic approach for the management of childhood status epilepticus.
Assuntos
Anticonvulsivantes/uso terapêutico , Midazolam/uso terapêutico , Estado Epiléptico/tratamento farmacológico , Adolescente , Criança , Pré-Escolar , Esquema de Medicação , Resistência a Medicamentos , Feminino , Humanos , Lactente , Infusões Intravenosas , MasculinoRESUMO
Two-hundred-and-seventeen children admitted with diarrhoea and 204 unmatched controls hospitalized during the 2-year period from November 1990 to October 1992 were included in this prospective study. Their stool samples were subjected to microscopy, cultures, ELISA for rotavirus and electron microscopy. Human rotavirus (HRV) was detected in 68 (31 per cent) of the stool samples in the study group and 12 (6 per cent) in the control group. There was an increased incidence in the cooler months of the year; typically, most of the affected infants and children presented with vomiting and respiratory symptoms, and had mild to moderate dehydration. Biochemical profile showed normal or hyponatraemia and normokalaemia. A more detailed community-based study of diarrhoeal diseases in Oman is to follow this pilot study.