RESUMO
A nine-month-old infant presented with fever and loss of milestones. Examination revealed intermittent rigidity and dystonic movements. Magnetic resonance imaging (MRI) shows decreased signal intensity in globus pallidus and substantia nigra, indicative of iron deposition, suggesting Hallervorden Spatz Disease. The dopamine-neuromelanine system has been postulated to be the possible pathogenesis. Gene mapping has located the defect to be in the coding sequence of a gene called PANK-2. Prenatal diagnosis is possible. The case is reported because of its rarity and early presentation.
Assuntos
Transtornos Cognitivos/etiologia , Consanguinidade , Distonia/etiologia , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Neurodegeneração Associada a Pantotenato-Quinase/complicaçõesRESUMO
A seven-year male child presented with history of recurrent life threatening infections associated with low IgA and IgG levels and significant elevation of IgM levels. He was diagnosed to have Hyper IgM syndrome. There was significant improvement after the immunoglobulin therapy. The child is now on regular immunoglobulin therapy and is free from recurrent infections. An index of suspicion to consider a possible diagnosis of immunodeficiency is stressed.