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- Title
Neurologic Disease in a Child With Hepatoerythropoietic Porphyria.
- Authors
Parsons, Jessica L.; Sahn, Eleanor E.; Holden, Kenton R.; Pai, G. Shashidhar
- Abstract
Hepatoerythropoietic porphyria (HEP) is a rare, autosomal recessive disorder due to deficient uroporphyrinogen decarboxylase enzyme activity. Patients exhibit photosensitivity, red urine, hypertrichosis, and characteristic serum and urine porphyrin profiles. Two siblings had the classic clinical and biochemical findings of HEP. The older patient developed a left-sided hemiparesis accompanied by an abnormal brain magnetic resonance imaging study. Although central nervous system abnormalities are a common feature of other hepatic porphyrias, they have not been previously documented in association with HEP.
- Subjects
PORPHYRIA; PHOTOSENSITIVITY disorders; HYPERTRICHOSIS; PORPHYRINS; MAGNETIC resonance imaging; NEUROLOGICAL disorders
- Publication
Pediatric Dermatology, 1994, Vol 11, Issue 3, p216
- ISSN
0736-8046
- Publication type
Article
- DOI
10.1111/j.1525-1470.1994.tb00589.x