Adult Niemann-Pick disease type B with myositis ossificans: a case report.

Niemann-Pick Disease (NPD) is a rare autosomal recessive lysosomal lipid storage disorder. The disease is caused by gene mutations that affect the metabolism of sphingolipids. The dysfunctions cause sphingomyelin to accumulate in different organs. NPD includes forms with low and high levels of sphingomyelin. We report a case of a 34 year-old man with a family history of NPD type B who presented with hepatosplenomegaly, neurological deficiency, bone abnormalities, and myositis ossificans. The clinical, biochemical, and imaging data confirmed the combined diagnosis of NPD type B with myositis ossificans.

Classification criteria for neuropsychiatric systemic lupus erythematosus: do they need a discussion?

BACKGROUND: At the current stage, the criteria for making the diagnosis of SLE (ARA, 1982) include only two neuropsychiatric manifestations: seizures and psychoses. In view of the need for early detection of the lesions of the nervous system, we set ourselves to the task of developing an approach for making the diagnosis of NPSLE (neuropsychiatric SLE) on the basis of criteria with high sensitivity and specificity. METHODS: In view of determining the type and incidence of the lesions of the nervous system (NS), clinical, laboratory, and instrumental examinations were performed within the period from 1998 to 2006 in 225 patients with SLE. Depending on the specific features of the clinical course, these patients were divided into three groups: with clinically manifested lesions of NS; without clinically manifested lesions of NS; and with incomplete SLE. RESULTS AND CONCLUSIONS: The results from the performed examinations showed a high percentage (64.44%) of neuropsychiatric lesions in the patients with SLE. According our results, NPSLE diagnosis should be made in the presence of at least one indicator from the first group of criteria (seizures, psychosis, cerebrovascular event, lesion of cranial nerves, motor disturbances, quantitative alterations of consciousness) and at least two indicators from the second group of criteria (cognitive dysfunction, headache due to lupus, peripheral neuropathy, MRI changes, EEG changes, ENMG changes, positive aRPA, positive aPL) after ruling out other causes (except for SLE) for their occurrence.