Turkish J Pediatr
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We report an 11-year-old boy who had isolated hypoglossal nerve palsy one week after symptoms and signs of urticarial lesions. Neuroradiological examinations and other investigations for etiology of hypoglossal nerve palsy and urticaria were normal. We suggest that all patients with hypoglossal palsy must be carefully evaluated for atypical findings and etiologies.
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Pyroglutamic aciduria (5-oxoprolinuria) is a rare autosomal recessive disorder caused by either glutathione synthetase deficiency (GSSD) or 5-oxoprolinase deficiency. The severe form of the disease, generalized GSSD, is characterized by acute metabolic acidosis, usually present in the neonatal period with hemolytic anemia and progressive encephalopathy. ⋯ High level of 5-oxoproline was detected in her urine and a diagnosis of generalized GSSD was made. She died of severe metabolic acidosis and sepsis at the age of six weeks.