Huang_2012_Zhonghua.Er.Ke.Za.Zhi_50_601

OBJECTIVE To explore the clinical characteristics of Wolman disease and diagnostic methods using enzymatic and molecular analysis METHOD Lysosomal acid lipase activity was measured using 4-methylumbelliferyl oleate in the leukocytes of an infant suspected of Wolman disease and LIPA gene mutational analysis was performed by PCR and direct sequencing in the proband and his parents After the diagnosis was confirmed the clinical biochemical radiological and histopathological findings in this case of Wolman disease were retrospectively reviewed RESULT The sixteen-day-old boy was failing to thrive with progressive vomiting abdominal distention and hepatosplenomegaly Abdominal X-ray revealed adrenal calcifications which were confirmed on abdominal CT scan Xanthomatosis were observed on enlarged liver spleen and lymph nodes during abdominal surgery Liver and lymph node biopsy showed foamy histiocytes The lysosomal acid lipase activity in leukocytes was 3.5 nmol/(mg.h control 35.5 105.8 nmol/(mg.h Serum chitotriosidase activity was 315.8 nmol/(ml.h control