Recurrent stupor due to lysinuric protein intolerance.

Recurrent stupor in children is an uncommon clinical problem with a wide differential diagnosis; inherited metabolic disorders account for a vast majority. We report a 9-year-old girl with recurrent episodes of stupor. Initial episode was treated as viral encephalitis and the second episode was managed as non-convulsive status epilepticus. Hyperammonemia was detected in the last episode. Metabolic work-up after dietary protein challenge revealed classical biochemical features of lysinuric protein intolerance. She was managed with protein-restricted diet, which resulted in marked neurological improvement. LPI is a rare inherited metabolic disorder due to membrane transport defect of cationic amino acids.

Possible role of Granulocyte Macrophage Colony Stimulating Factor receptor (GM-CSF R) in malaria.

Malaria has been reportedly increasing in incidence on the globe. Evidence from clinical studies supports a role for cytokines in the pathogenesis of cerebral malaria. Given the stimulatory effect of the ligand GM-CSF on the synthesis and release of the pyrogenic cytokine TNF alpha, the present study has been undertaken to investigate a possible role of GMCSF receptor in the pathogenesis of both Plasmodium vivax and Plasmodium falciparum malaria. An enzyme immunoassay developed by us at our laboratory for the quantitation of GM-CSF receptor has been used. No changes in the concentration of the receptor have been indicated either at the time of diagnosis or after treatment. In addition, an intercomparison of the receptor concentration between the P. vivax and P. falciparum groups does not show any significant difference. The results suggest that GM-CSF receptor has no significant role in the pathogenesis of either type of malaria.