Although pulmonary function test indexes may be abnormal, imaging findings do not necessarily correlate with pulmonary function in patients with type B Niemann-Pick disease.

Hysterosalpingography (HSG) has become a commonly performed examination due to recent advances and improvements in, as well as the increasing popularity of, reproductive medicine. HSG plays an important role in the evaluation of abnormalities related to the uterus and fallopian tubes. Uterine abnormalities that can be detected at HSG include congenital anomalies, polyps, leiomyomas, surgical changes, synechiae, and adenomyosis. Tubal abnormalities that can be detected include tubal occlusion, salpingitis isthmica nodosum, polyps, hydrosalpinx, and peritubal adhesions. Some complications can occur with HSG-most notably, bleeding and infection-and awareness of the possible complications of HSG is essential. Nevertheless, HSG remains a valuable tool in the evaluation of the uterus and fallopian tubes. Radiologists should become familiar with HSG technique and the interpretation of HSG images.

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Gaucher disease is the prototypical lysosomal storage disease. It results from the accumulation of undegraded glucosylceramide in the reticuloendothelial system of the bone marrow, spleen and liver due to deficiency of the enzyme glucocerebrosidase. This leads to hematologic, visceral and skeletal maifestions. Build up of glucosylceramide in the liver and spleen results in hepatosplenomegaly. The normal bone marrow is replaced by the accumulating substrate leading to many of the hematologic signs including anemia. The visceral and skeletal manifestations can be visualized with various imaging modalities including radiography, computed tomography, magnetic resonance imaging (MRI) and radionuclide scanning. Prior to the development of enzyme replacement therapy, treatment was only supportive. However, once intravenous enzyme replacement therapy became available in the 1990s it quickly became the standard of care. Enzyme replacement therapy leads to improvement in all manifestations. The visceral and hematologic manifestations respond more quickly usually within a few months or years. The skeletal manifestations take much longer, usually several years, to show improvement. In recent years newer treatment strategies, such as substrate reduction therapy, have been under investigation. Imaging plays a key role in both initial diagnosis and routine monitoring of patient on treatment particularly volumetric MRI of the liver and spleen and MRI of the femora for evaluating bone marrow disease burden.