RESUMO
BACKGROUND: Currarino syndrome is a rare condition characterized by presacral mass, anorectal malformation and sacral dysgenesis. CASE PRESENTATION: We report the case of a child that presented chronic constipation, encopresis and mycrocephaly. The characteristics were initially compatible with a case of functional constipation and a therapy with polyethylene glycol was prescribed. After a year, because of poor response, a plain abdominal X-ray was performed, detecting sacrum abnormalities. Finally, a CGH-array analysis was performed and a form of Currarino Syndrome caused by a rare 7q36 microdeletion, was diagnosed. CONCLUSION: Occult spinal dysraphism should be suspected in case of poor polyethylene glycol responder constipation, even when evident sacral abnormalities on the physical examination are not detected.
Assuntos
Canal Anal/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 7/genética , Anormalidades do Sistema Digestório/diagnóstico , Anormalidades do Sistema Digestório/genética , Microcefalia/diagnóstico , Microcefalia/genética , Reto/anormalidades , Sacro/anormalidades , Siringomielia/diagnóstico , Siringomielia/genética , Pré-Escolar , Feminino , Proteínas de Homeodomínio/genética , Humanos , Fatores de Transcrição/genéticaRESUMO
We report the case of a child with frequent episodes of arms and neck hypertonia and regurgitation. These characteristics, associated with an esophagitis, suggested the diagnosis of gastroesophageal reflux disease (Sandifer syndrome?). Because after an appropriate therapy the symptoms didn't disappear, a neurological disorder was suspected: MRI showed two bulky intramedullary cysts. After the removal of the cysts symptoms resolved.