Berger C, Frappaz D, Leroux D, Blez F, Vercherat M, Bouffet E, Jalbert P, Brunat-Mentigny M
Service de pédiatrie, CHRU, hôpital Nord, Saint-Etienne, France.
Arch Pediatr. 1996 Aug;3(8):802-5. doi: 10.1016/0929-693x(96)82165-8.
Bloom syndrome is characterized by growth failure, skin anomalies with sun sensitivity, minor anatomic defects, excessive chromosomic fragility and usually severe immune deficiency. The chromosome fragility predisposes these children to the development of hematologic malignancies and solid tumors.
Morgan, a 4-year-old boy with Bloom syndrome, developed a Wilms tumor. Chemotherapy was poorly tolerated. Two years later, the child died from an uncontrolled progressive disease.
This is the fourth reported case of Wilms tumor occurring in a child with Bloom syndrome. This possibility requires repeated abdominal ultrasonography in such patients.
布卢姆综合征的特征为生长发育迟缓、对阳光敏感的皮肤异常、轻微解剖学缺陷、染色体过度脆弱，且通常伴有严重免疫缺陷。染色体脆弱使这些儿童易患血液系统恶性肿瘤和实体瘤。
摩根是一名患有布卢姆综合征的4岁男孩，患上了肾母细胞瘤。化疗耐受性差。两年后，该患儿死于无法控制的进展性疾病。
这是第四例报道的布卢姆综合征患儿发生肾母细胞瘤的病例。对于此类患者，需要反复进行腹部超声检查以排查这种可能性。
