Case report. Pulmonary involvement in an adult male affected by type B Niemann-Pick disease.

We report the case of a 39-year-old male patient affected by type B Niemann-Pick disease, in whom pulmonary involvement became evident 15 years after the initial diagnosis. Pulmonary involvement was discovered incidentally during the evaluation of a dry cough and exertional dyspnoea which occurred in the context of an acute febrile, self-limiting illness. In this case, the pulmonary involvement is clinically mild, with minimal alteration of the diffusing capacity for carbon monoxide (DL(CO)), despite moderate fibrosis and widespread infiltration of both alveoli and interstitium by sea blue histiocytes.

[SAPHO syndrome. Scintigraphic and radiologic findings]. / Síndrome de SAPHO. Hallazgos gammagráficos y radiológicos.

We present the case of a 39 year old woman with a several year long history of palmoplantar pustulosis and occasional pain in the anterior wall of the thorax, lumbar spine and both sacroiliac joints. As a consequence of low grade fever, severe sternoclavicular pain and discomfort and swelling in the first left rib arches, the patient was admitted to hospital. Based on the clinical, radiologic, scintigraphic and cutaneous findings, the SAPHO syndrome was diagnosed. Bone scintigraphy is an accurate and early diagnostic test for this syndrome which also provides the advantage of being able to obtain a whole body scan.