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. [10.1186/s13052-018-0500-2]

Currarino syndrome and microcephaly due to a rare 7q36.2 microdeletion: a case report

L. Cococcioni;E. Cattaneo;S. Redaelli;G.V. Zuccotti
Ultimo
2018-05-25

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.
Currarino syndrome; Constipation; 7q36 microdeletion
Settore MED/38 - Pediatria Generale e Specialistica
Article (author)
File in questo prodotto:
File Dimensione Formato  
Currarino syndrome and microcephaly due to a rare 7q362 microdeletion a case report.pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 862.3 kB
Formato Adobe PDF
862.3 kB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

Caricamento pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/597805
Citazioni
  • ???jsp.display-item.citation.pmc??? 0
  • Scopus 1
  • ???jsp.display-item.citation.isi??? 1
social impact