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.
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.
|Titolo:||Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report|
ZUCCOTTI, GIAN VINCENZO (Ultimo)
|Parole Chiave:||Currarino syndrome; Constipation; 7q36 microdeletion|
|Settore Scientifico Disciplinare:||Settore MED/38 - Pediatria Generale e Specialistica|
|Data di pubblicazione:||25-mag-2018|
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1186/s13052-018-0500-2|
|Appare nelle tipologie:||01 - Articolo su periodico|
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