RESUMO
We studied the proportion of developmental dysplasia of spastic hip in children with cerebral palsy. Children with cerebral palsy aged 2-12 years were enrolled. Migration percentage was measured on pelvic radiographs. Hip dysplasia was seen in 15 (12.7%) children.
Assuntos
Paralisia Cerebral/complicações , Paralisia Cerebral/epidemiologia , Luxação Congênita de Quadril/complicações , Luxação Congênita de Quadril/epidemiologia , Criança , Pré-Escolar , Estudos de Coortes , Humanos , Índia/epidemiologiaRESUMO
Glucose transporter type 1 (GLUT-1) deficiency is a rare cause of preventable intellectual disability. Intellectual disability is due to refractory seizures in infancy and reduced supply of glucose to the brain. The authors report a third born male child of consanguineous parentage who presented with infantile spasms. Initially, he had refractory convulsions of focal, generalised, and myoclonic jerks, not responding to multiple anticonvulsants. He also had choreoathetoid movements. On examination he had microcephaly. MRI of brain was normal and EEG showing diffuse slowing. CSF glucose was low compared to blood glucose, with normal lactate and without any cells, hence diagnosed as Glucose transporter-1 deficiency and started on ketogenic diet. With ketogenic diet, child was seizure free, anticonvulsants decreased to 2 from 5, and improvements in development were noted.
Assuntos
Dieta Cetogênica , Transportador de Glucose Tipo 1/deficiência , Espasmos Infantis/dietoterapia , Espasmos Infantis/etiologia , Humanos , Lactente , Masculino , Indução de RemissãoAssuntos
Hemiatrofia Facial/patologia , Criança , Face/patologia , Hemiatrofia Facial/diagnóstico , Humanos , MasculinoRESUMO
Niemann-Pick group of diseases are rare lysosomal storage disorders. The clinical phenotype is variable. We report a child who first time presented with tremors of tongue and tremors of one side of the body. On examination child had hemiparesis and hepatosplenomegaly. Bone marrow examination shows storage cells suggestive of Niemann-Pick cells and enzyme assay confirmed the diagnosis.
Assuntos
Doença de Niemann-Pick Tipo A/diagnóstico , Tremor/diagnóstico , Feminino , Humanos , Lactente , Paresia/diagnósticoRESUMO
A 7-year-old boy with acquired immunodeficiency syndrome, receiving antiretroviral drugs for 2 years, presented with a recent onset of myoclonic jerks and cognitive deterioration. On examination, he manifested myoclonic jerks once every 10-15 seconds. His electroencephalogram indicated periodic complexes, and his cerebrospinal fluid tested positive for measles antibodies.
