Primary hyperoxaluria type-1: an unprecedented presentation at birth.
This report describes a male baby with primary hyperoxaluria type-1, presenting at 5 hours of age with cyanotic episodes, hypotonia, unexplained techypnea and tachycardia. This infant also had renal calcinosis, and middle cerebral arterial infarct with unilateral enlargement of ventricle and left porencephalic cyst on CT scan. The infant improved with diuretics, water supplementation, pyridoxine, and Albright solution.
Patwardhan
Anjali
A
Neonatal Intensive Care Unit, New Cross-Hospital, Royal Wolverhampton NHS Trust, Wolverhampton, England, U.K. doctoranjali@hotmail.com
Higgins
Cathy
C
D017668:Age of Onset; D006801:Humans; D006960:Hyperoxaluria, Primary / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy; D007231:Infant, Newborn; D008297:Male