RESUMO
Capillary malformation-arteriovenous malformation (CM-AVM) is a recently identified autosomal dominant disorder. Arteriovenous lesions have been reported in the brain, limbs, and face. We report a 7-year-old patient with CM-AVM with spinal AVM, which is a rarely reported association.
Assuntos
Malformações Arteriovenosas/diagnóstico , Malformações Arteriovenosas/terapia , Capilares/anormalidades , Embolização Terapêutica , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/terapia , Doenças da Coluna Vertebral/diagnóstico , Doenças da Coluna Vertebral/terapia , Criança , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , MasculinoRESUMO
An 8-month-old girl and a 20-month-old boy who presented with motor and developmental delay and long-standing fever are presented. The patients were diagnosed as Angelman syndrome with fluorescence in situ hybridization (FISH) analysis. Despite extensive clinical and laboratory examinations, no inflammatory or infectious origin for the fever was found. It was considered that the long-standing fever observed in these cases was due to hypothalamic dysfunction for thermoregulation.
Assuntos
Síndrome de Angelman , Febre de Causa Desconhecida , Síndrome de Angelman/diagnóstico , Síndrome de Angelman/fisiopatologia , Regulação da Temperatura Corporal , Deficiências do Desenvolvimento , Feminino , Febre de Causa Desconhecida/etiologia , Humanos , Hipotálamo/fisiopatologia , Hibridização in Situ Fluorescente , Lactente , Masculino , TurquiaRESUMO
Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of α-dystroglycan (α-DG). Abnormal glycosylation of α-DG is a common finding in Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB), Fukuyama congenital muscular dystrophy (FCMD), congenital muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes. FCMD, caused by mutations in Fukutin (FKTN), is most frequent in Japan, but an increasing number of FKTN mutations are being reported outside of Japan. We describe four new patients with FKTN mutations and phenotypes ranging from: severe WWS in a Greek-Croatian patient, to congenital muscular dystrophy and cobblestone lissencephaly resembling MEB-FCMD in two Turkish patients, and limb-girdle muscular dystrophy and no mental retardation in a German patient. Four of the five different FKTN mutations have not been previously described.