A Case of Type A Niemann-Pick Disease

Niemann-Pick disease is a storage disease characterized by accumulation of sphingomyelin and other lipids, mainly in the reticuloendothelial system. We experienced a case of type A Niemann-Pick disease in a 18-month-old male infant. He showed dyspnea, marked hepatosplenomegaly and developmental retardation. Fundoscopic examination revealed cherry red spots in both macula. Bone marrow aspirates showed characteristic foam cells. Autopsy finding revealed that liver, spleen, lung, lymph node and brain were involved. Reticular infiltration was shown on chest X-ray. We reported a case of type A Niemann-Pick disease with a brief review of the related literature.

An Analytic Study for Incidence of Childhood Leukemia in Pusan City, Korea / 대한소아혈액종양학회지

BACKGROUND: Cancer is the second cause of childhood death following accident, and leukemia is the most frequent childhood cancer in Korea. For the desirable control of childhood leukemia, of which the mortality is still high, the basic data for the incidence has a great importance. This is the second report from the data during 1991~1995 following the first one that analyzed the data from 328 cases of childhood leukemia during 1981~1990 in the same area, Pusan city, Korea. METHODS: The data were obtained from 138 new cases(84 males and 54 females from 0 to 15 years old) of childhood leukemia who had been living in the city of Pusan and were admitted to the 4 university hospitals and 11 general hospitals from 1991 to 1995. The cases were confirmed by CBC and bone marrow examination. RESULTS: The crude annual incidence rate per 100,000 population varied 1.50~5.30, 2.59~6.00 and 1.58~2.61 in the age group of 0~4 years, 5~9 years and 10~14 years, respectively. The standardized annual incidence rate per 100,000 population varied from 2.05 to 3.46(male 2.96~4.89, female 0.98~3.57). Sex ratio(male to female) was 1.58:1, 1.44:1, and 1.82:1 in total cases, ALL and AML, respectively, while incalculable in CML. By the major types of childhood leukemia, the cases were composed of 105 ALL (76.1%), 31 AML(22.5%), 2 CML(1.4%). CONCLUSION: It was concluded that the annual incidence rate of childhood leukemia per 100,000 population in Pusan city during 1991~1995 was similar to that of previous report during 1981~1990, while the proportion of ALL had tendency to increase up to that of United States, in contrast to the low proportions of ALL in the previous reports.

A Case of Polyglandular Autoimmune Syndrome

When dysfunction of two or more endocrine glands occurs in association with circulating organ specific antibodies directed against the involved glands, the term polyglandular autoimmune (PGA) syndrome is applied. This syndrome is usually classified into three groups. The autoimmune nature of this disease has been based on the presence of lymphocytic infiltration of the affected glands, organ specific autoantibody in serum, cellular immune defects and association with HLA DR/DQ genes. A 12-year-old girl developed PGA syndrome, type III manifesting Grave's disease and insulin-dependent diabetes mellitus. The thyroid microsomal Ab, TSH receptor Ab and pancreatic islet cell Ab were positive. She should be observed for the possible development of adrenal insufficiency and/or other autoimmune disease.