RESUMO
Severe forms of hypophosphatasia due to loss-of-function in the ALPL gene may present with diverse neurological problems including pyridoxine-responsive seizures. We present a short report of pyridoxine-responsive neonatal seizures. Due to severe osteopenia with unmeasurable levels of alkaline phosphatase, targeted genetic screening was performed and two pathogenic variants in the gene for the nonspecific alkaline phosphatase confirmed the diagnosis of hypophosphatasia. We would like to emphasize the importance of considering infantile hypophosphatasia in the differential diagnosis of pyridoxine-responsive seizures with concomitant low alkaline phosphatase level and bone pathology, especially with the new treatments becoming available in the future.
Assuntos
Hipofosfatasia/complicações , Convulsões/etiologia , Fosfatase Alcalina/genética , Testes Genéticos/métodos , Humanos , Hipofosfatasia/genética , Recém-Nascido , Masculino , Convulsões/genéticaAssuntos
Anticoagulantes/uso terapêutico , Calcinose/diagnóstico , Infarto Cerebral/diagnóstico por imagem , Hematoma Subdural/complicações , Administração Oral , Idoso , Anticoagulantes/administração & dosagem , Fibrilação Atrial/tratamento farmacológico , Cardiomiopatias/tratamento farmacológico , Humanos , Masculino , Tomografia Computadorizada por Raios XRESUMO
Sigmund Freud was the first to write about cerebral palsy as a nosographic category, uniting various infantile motor deficits of brain origin. He did not ascribe more than a temporary value to the term (infantile) cerebral palsy, but it has become--and still is--an indispensable part of the nosographic system. Nevertheless, it is still easier to explain what cerebral palsy is not than to define it precisely.
Assuntos
Paralisia Cerebral/diagnóstico , Formação de Conceito , Asfixia/diagnóstico , Paralisia Cerebral/etiologia , Paralisia Cerebral/história , História do Século XIX , História do Século XX , História do Século XXI , Humanos , Exame Neurológico , Terminologia como AssuntoRESUMO
Changes in the prevalence of cerebral palsy (CP) in a population of Slovenian children born between 1981 and 1990 were determined. A population-based birth-cohort study was undertaken. Seven hundred and sixty-eight children with CP (aged 5 to 14 years) were identified from the National Cerebral Palsy Register in 1995. Spastic syndromes accounted for 84.8%. Of the 768 children studied, the total prevalence of CP per 1000 live births fell significantly from 3.3 in 1981 to 2.3 in 1990. This decreasing trend was observed in children born at < or = 38 weeks of gestation and in those with a birthweight of < 1500 g, but the prevalence of CP remained fairly constant in those born at > 38 weeks of gestation and in those with a birthweight of > or = 2500 g. The results show that a statistically significant improvement in the survival rate of infants born in Slovenia between 1981 and 1990 was not accompanied by an increase in the prevalence of CP. Additionally, in the group of very-low-birthweight infants the prevalence of CP considerably decreased.
Assuntos
Paralisia Cerebral/epidemiologia , Adolescente , Peso ao Nascer , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Idade Gestacional , Humanos , Masculino , Prevalência , Eslovênia/epidemiologiaRESUMO
Crowding in the dental arch is an indication for planned extraction of the appropriate teeth, provided that this is accomplished on time. The authors describe a case where extraction of both upper premolars was to be followed by treatment with a monomaxillary plate. After the extraction the patient was unable to attend for further treatment. When he returned three month later, spontaneous regulation had already occurred. The final outcome is illustrated by photographs.
