X-linked adreno leukodistrophy: Profiles of very long chain fatty acids in plasma and fibroblasts in eigth Serbian patients.

X-linked adrenoleukodistrophy is a severe neurodegenerative disorder with impaired very long chain fatty acid metabolism. The disease associated ABCD1 gene encodes a peroxisomal membrane protein which belongs to the superfamily of ATP-binding cassette transporters. We investigated eight male X-ALD patients diagnosed among 142 suspected patients referred for investigation. Plasma levels of very long chain fatty acids were measured at our laboratory using capillary gas chromatography. Eight cases of childhood X-ALD were diagnosed. This is the first published series of Serbian patients with X-ALD. In addition, diagnosis identifies carriers, which could be benefit for genetic counselling and prenatal diagnosis.

Urinary catecholamine metabolites: Capillary gas chromatography method and experience with 12 cases of neuroblastoma.

We propose a rapid, simple metodology for routine analysis of human urine to detect vanillylmandelic and homovanillic acid related to neuroblastoma. The assay were specific capillary gas chromatography with flame ionization detection. In this methodology an internal standard is used and the procedure involves ethyl ester formation without isolation of the compounds of interest. The run time is 36 minutes. We also report quantitative results for urinary vanillylmandelic and homovanillic acid in neuroblastoma patients, demonstrating the diagnostic value of this method.

Rasmussen syndrome and long-term response to thalidomide.

We report a 13-year-old female who experienced symptoms and signs of Rasmussen encephalitis for the first time at the age of 5 years. Various therapeutic procedures, including conventional and new antiepileptic drugs, steroids, immunoglobulin, plasma exchanges, and partial hemispherectomy, were applied, but their results were unsatisfactory. During one of the exacerbations, when the patient's life was endangered, thalidomide was administered. Frequency and intensity of epileptic seizures were reduced significantly, and the quality of her life improved. Except for moderate neutropenia, the other adverse effects were not recognized. In our opinion, thalidomide is not a first-choice drug for Rasmussen encephalitis but is a good alternative only for cases refractory to other well-known and accepted therapeutic procedures.

Fulminant subacute sclerosing panencephalitis:two cases with atypical presentation.

From 1972 to 2002, we diagnosed and treated 22 cases of subacute sclerosing panencephalitis. We report on two pediatric patients with fulminant subacute sclerosing panencephalitis who had atypical clinical manifestations. In both patients diagnosis was confirmed by elevated titers of CSF and serum antimeasles antibodies. Patient 1 presented with behavioral disorder, dysarthria, and drop attacks, while Patient 2 presented with partial complex seizures. Mental difficulties, personality changes, or myoclonus were not noticed in Patient 2. In both our patients stage I was not prominent, and stage II was of shortened duration. In spite of treatment with isoprinosine and interferon-alpha, both our patients deteriorated rapidly and died 2.5 and 4 months, respectively, after the onset of neurologic symptoms. Both atypical presentation and rapid clinical course observed in our patients could cause problems in making final diagnosis of subacute sclerosing panencephalitis. Therefore, subacute sclerosing panencephalitis should be included in differential diagnosis of acute unexplained encephalopathic diseases.