NEUROLOGIC DISEASE IN A CHILD WITH HEPATOERYTHROPOIETIC PORPHYRIA

Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive di sorder due to deficient uroporphyrinogen decarboxylase enzyme activity . Patients exhibit photosensitivity, red urine, hypertrichosis, and ch aracteristic serum and urine porphyrin profiles. Two siblings had the classic clinical and biochemical findings of HEP. The older patient de veloped a left-sided hemiparesis accompanied by an abnormal brain magn etic resonance imaging study. Although central nervous system abnormal ities are a common feature of other hepatic porphyrias, they have not been previously documented in association with HEP.