No abstract available.
Niemann-Pick Diseases*

No abstract available.
Bone Marrow* ; Histiocytes* ; Niemann-Pick Diseases*

Humans ; Niemann-Pick Diseases ; Stomach Neoplasms

BACKGROUND AND OBJECTIVES: Niemann Pick A disease causes a progressive accumulation of sphyngomyelin in several organs and the survival of the patients is usually limited to three years. We describe the outcome of a patient suffering from Niemann Pick A disease, who first underwent an haploidentical bone marrow transplantation, and then intrathecal and I.V injections of mesenchymal cells. METHODS AND RESULTS: While the outcome of bone marrow transplantation was a complete failure, one month after the treatment with the mesenchymal cells the patient improved from the psychomotor and the parenchymal storage perspective. When hypersplenism was solved platelets rose quickly from 20,000 to 120,000/microliter. CONCLUSIONS: Therefore cellular therapy should be considered as a possible choice of treatment of NPA disease.
Bone Marrow Transplantation ; Humans ; Hypersplenism ; Niemann-Pick Diseases* ; Stem Cells*

Adolescent ; Adult ; Female ; Humans ; Male ; Niemann-Pick Diseases ; genetics ; Pedigree

Clinical Laboratory Techniques ; Diagnosis, Differential ; Humans ; Niemann-Pick Diseases ; diagnosis

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.
Autopsy ; Bone Marrow ; Brain ; Dyspnea ; Foam Cells ; Humans ; Infant ; Liver ; Lung ; Lymph Nodes ; Male ; Mononuclear Phagocyte System ; Niemann-Pick Disease, Type A* ; Niemann-Pick Diseases ; Prunus ; Spleen ; Thorax

Niemann-Pick disease is a rare inherited metabolic storage disease that causes excessive intracellular storage of sphingomyelin in various organs. We present the pulmonary imaging findings with particular emphasis on the CT findings in a case of Niemann-Pick disease type B with pulmonary involvement. The chest radiograph showed fine reticulonodular opacities in both basal lung fields, and the high-resolution chest CT showed centrilobular nodular opacities and smooth thickening of the interlobar fissure and interlobular septum with a basal lung predominance. Coronal reformatted CT revealed a prominent interlobular septal thickening around the diaphragm. The follow-up high-resolution chest CT showed no significant interval changes over a 3-years period.
Diaphragm ; Follow-Up Studies* ; Lung ; Niemann-Pick Diseases* ; Radiography, Thoracic ; Tomography, X-Ray Computed

Adult ; Alanine Transaminase ; metabolism ; Diagnosis, Differential ; Humans ; Liver ; pathology ; Male ; Niemann-Pick Diseases ; pathology

Child, Preschool ; Graft vs Host Disease ; prevention & control ; Hematopoietic Stem Cell Transplantation ; Humans ; Male ; Niemann-Pick Diseases ; therapy ; Transplantation, Homologous