Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri LankanChild.

Abstract

A previously healthy 14-year-old girl who was the youngest of 4 siblings with no parental consanguinity presented with sudden onset right-sided upper limb and lower limb weakness, unsteady gait, and slurred speech. On examination, there was right-sided upper motor facial nerve palsy. A brain MRI revealed a left-sided parietal lobe infarction. In the complete blood count and peripheral blood smear there was a neutrophil leukocytosis with mild left shift maturation. More than 5% of neutrophils displayed hypersegmentation. Platelets and red blood cells were normal, both quantitatively and morphologically, except for a few teardrop-shaped cells. The overall picture indicated vitamin B12 deficiency. There were no features suggestive of iron deficiency. Renal function and electrolytes were within age-matched intervals. Plasma glucose level was 4.8 mmol/L. The infection markers, including cerebrospinal fluid analysis, were normal. The coagulation screen performed as international normalized ratio/prothrombin time, activated partial thromboplastin time, and fibrinogen were unremarkable (TABLES 1 and 2).