Data di Pubblicazione:
2018
Citazione:
Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report / L. Cococcioni, S. Paccagnini, E. Pozzi, L. Spaccini, E. Cattaneo, S. Redaelli, F. Crosti, G.V. Zuccotti. - In: THE ITALIAN JOURNAL OF PEDIATRICS. - ISSN 1824-7288. - 44:(2018 May 25), pp. 59.1-59.5. [10.1186/s13052-018-0500-2]
Abstract:
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.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Currarino syndrome; Constipation; 7q36 microdeletion
Elenco autori:
L. Cococcioni, S. Paccagnini, E. Pozzi, L. Spaccini, E. Cattaneo, S. Redaelli, F. Crosti, G.V. Zuccotti
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