Giugno 2010 - Volume XXIX - numero 6
Pagine elettroniche ; Caso Contributivo
Dipartimento di Pediatria e di Chirurgia Pediatrica, Università di Firenze, Ospedale Meyer, Firenze
Indirizzo per corrispondenza: paolo.lionetti@unifi.it
Key words: Intestinal malrotation, Vomiting, Older children
Intestinal malrotation (IM) is a rare congenital alteration of the embryonal development of the bowel that typically presents in the first year of life. The Authors introduce the case of a 5 years old child affected by a chromosomal disorder (partial trisomy 4q and partial monosomy 7p in balanced maternal translocation) with a two-month-history of recurrent gastric vomiting and abdominal distension without pain or alterations in blood tests. The patient underwent abdominal radiography, ecography and upper gastrointestinal barium examination that showed multiple air-fluid levels, marked distension of stomach, duodenum and first tract of jejunum and a Treitz in abnormal position. IM was confirmed by surgery and intestinal derotation and duodenoplastic were performed. IM should be considered as a differential possibility in the diagnosis of abdominal disorders in older children and adults.
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Pagine elettroniche ; Caso Contributivo
1Clinica Pediatrica, IRCCS “Burlo Garofolo”, Trieste
2SC Oculistica e Riabilitazione Visuo-Motoria, IRCCS “Burlo Garofolo”, Trieste
3Pediatra di famiglia, Trieste
Indirizzo per corrispondenza: elisa_rubinato@libero.it
Key words: Gaze, Coloboma, Nistagmus, CHARGE syndrome
We report the case of a 2-month-old baby who was brought to our attention because his mother noted that he “doesn’t gaze” as his sister did. The child presented with absence of gazing movement and nistagmus. An ophtalmological evaluation revealed a bilateral iris coloboma. Coloboma is a congenital eye defect that results from an abnormality fusion of the developing optic cup. All eye structures could be involved, but when it affects iris it could cause severe visual impairment, which is related to the extension of the defect. When a bilateral coloboma is diagnosed a complete evaluation should be made in order to rule out other congenital abnormalities as in CHARGE syndrome (Coloboma, Heart defect, Atresia coanae, Retarded growth and development, Genital anomalies, Ear anomalies and deafness). A long term follow up should be made to help the child and instruct the family on the best management of child’s needs.
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