RESUMO
Schizencephaly rarely presents in the neonatal period. We present the case of a baby girl born with growth retardation and microcephaly who developed seizures on the 3rd day of life. There was no clinical or laboratory evidence of a congenital viral infection but brain imaging revealed widespread calcification and bilateral schizencephaly clefts. By the age of 11 months, she had developed gross psychomotor retardation.
Assuntos
Encefalopatias/diagnóstico , Encéfalo/anormalidades , Calcinose/diagnóstico , Encéfalo/diagnóstico por imagem , Ecoencefalografia , Feminino , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XAssuntos
Deleção Cromossômica , Cromossomos Humanos Par 2/genética , Transtornos do Crescimento/genética , Microcefalia/genética , Adolescente , Adulto , Pré-Escolar , Bandeamento Cromossômico , Consanguinidade , Feminino , Transtornos do Crescimento/patologia , Humanos , Lactente , Cariotipagem , Masculino , Microcefalia/patologiaRESUMO
Prognosis of congenital infantile cortical hyperostosis (Caffey's disease) is poor particularly in premature babies. Two cases are presented of congenital Caffey's disease in premature babies. The first baby was hydropic at birth and had cortical hyperostosis involving the mandible and long bones of right upper limb and both lower limbs. The second baby had cortical hyperostosis of the nasal bones causing severe nasal nonchoanal stenosis that needed surgery, in addition to involvement of long bones of the four extremities. Both babies recovered from the disease and were discharged home well. These cases suggest that the improved outcome of congenital of infantile cortical hyperostosis may reflect improvement of neonatal mechanical ventilation and availability of neonatal total parenteral nutrition.
