Zárate Mondragón F E, Ramírez Mayans J A, Cervantes Bustamante R, Mora Tiscareño M A, Mata Rivera N, Rodríguez Lizárraga E
Servicio de Gastroenterología y Nutrición Pediátrica, Instituto Nacional de Pediatría, Col. Insurgentes Cuicuilco.
Rev Gastroenterol Mex. 1996 Oct-Dec;61(4):371-5.
Shwachman syndrome has been recognized as the second most frequent cause of pancreatic insufficiency in children and its is related to hematological and bony abnormalities.
To know the main clinical symptoms, analytical data, radiological and sonographic findings in the Shwachman syndrome.
We present a 1 year 4 months old girl with Shwachman syndrome. We reviewed the clinical history taking into consideration height/weight relationship according to percentiles and physical examination. Analytical data: blood counts, fetal hemoglobin, vitamin B12 and folate levels, bone marrow examination, stool cultures and examination for ova and parasites, transaminase levels, sweat electrolytes, serologic tests for viral hepatitis. Radiological studies: bone series and bone age, abdominal sonography and computed tomography. Liver and intestinal biopsies.
In this patient we confirmed the presence of exocrine pancreatic insufficiency, dysfunction of the bone marrow and bony abnormalities typical in Shwachman syndrome.
舒瓦茨曼综合征已被认为是儿童胰腺外分泌功能不全的第二大常见病因，且与血液学和骨骼异常有关。
了解舒瓦茨曼综合征的主要临床症状、分析数据、放射学和超声检查结果。
我们报告一名1岁4个月大患有舒瓦茨曼综合征的女孩。我们回顾了临床病史，考虑了根据百分位数计算的身高/体重关系以及体格检查。分析数据：血细胞计数、胎儿血红蛋白、维生素B12和叶酸水平、骨髓检查、粪便培养及虫卵和寄生虫检查、转氨酶水平、汗液电解质、病毒性肝炎血清学检测。放射学检查：骨骼系列和骨龄、腹部超声和计算机断层扫描。肝脏和肠道活检。
在该患者中，我们证实存在外分泌胰腺功能不全、骨髓功能障碍以及舒瓦茨曼综合征典型的骨骼异常。
