Berrocal T, Simón M J, al-Assir I, Prieto C, Pastor I, de Pablo L, Lama R
Department of Pediatric Radiology, La Paz Children's Hospital, Madrid, Spain.
Pediatr Radiol. 1995;25(4):289-92. doi: 10.1007/BF02011104.
Six children with Shwachman-Diamond syndrome have been diagnosed and treated in our hospital since 1986. We describe the radiological and sonographic findings of this rare disease which is characterized by metaphyseal chondrodysplasia, neutropenia and pancreatic exocrine insufficiency. It presents with variable extremity shortening, "cup" deformation of the ribs, metaphyseal widening and hypoplasia of the iliac bones, and increased echogenicity of the pancreas without change in size. We discuss the differential diagnosis and review the literature.
自1986年以来，我院已诊断并治疗了6例施瓦赫曼-戴蒙德综合征患儿。我们描述了这种罕见疾病的放射学和超声检查结果，其特征为干骺端软骨发育不良、中性粒细胞减少和胰腺外分泌功能不全。该病表现为四肢长短不一、肋骨呈“杯状”变形、干骺端增宽及髂骨发育不全，胰腺回声增强但大小无变化。我们讨论了鉴别诊断并回顾了相关文献。
