Second case of hepatoblastoma in a young patient with Simpson-Golabi-Behmel syndrome.
Simpson-Golabi-Behmel syndrome (SGBS) is an X-linked overgrowth syndrome associated with multiple congenital anomalies caused by a mutant X-linked recessive trait. The authors report on a 14-month-old male patient affected by hepatoblastoma. As far as is known, this is the second patient reported with SGBS and hepatoblastoma. The observations emphasize that an increased risk of neoplasia in SGBS must be kept in mind, especially in young patients.
Buonuomo
P S
PS
Department of Pediatrics, Università Cattolica del Sacro Cuore, Policlinico A. Gemelli, Rome, Italy. savabi@libero.it
Ruggiero
A
A
Vasta
I
I
Attinà
G
G
Riccardi
R
R
Zampino
G
G
D040181:Genetic Diseases, X-Linked / Q000150:complications* / Q000000981:diagnostic imaging; D006130:Growth Disorders / Q000150:complications* / Q000000981:diagnostic imaging; D018197:Hepatoblastoma / Q000150:complications* / Q000000981:diagnostic imaging; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography