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Acute intermittent porphyria with transient cortical blindness
Javeed Iqbal Bhat1, Umar Amin Qureeshi, Mushtaq Ahmad Bhat
1Department of Pediatrics, Sher-I- Kashmir Institute of Medical Science, Soura, Srinagar, J and K, India.
Indian Pediatrics
|December 15, 2010
Summary
Acute intermittent porphyria, a genetic disorder affecting enzyme activity, can cause severe neurovisceral crises. This case highlights a pediatric patient experiencing encephalopathy and temporary cerebral blindness due to this condition.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Acute intermittent porphyria (AIP) is an inherited metabolic disorder.
- It results from deficient activity of porphobilinogen deaminase.
- AIP leads to the overproduction of porphyrin precursors, causing neurovisceral crises.
Observation:
- A 12-year-old male child presented with symptoms suggestive of an acute crisis.
- The patient exhibited signs of encephalopathy.
- Transient blindness of cerebral origin was also noted.
Findings:
- The presented case involves a pediatric patient diagnosed with acute intermittent porphyria.
- The child experienced severe neurological manifestations, including encephalopathy.
- Cerebral origin transient blindness was a key presenting symptom.
Implications:
- This case underscores the potential for severe neurological complications in pediatric AIP.
- Early recognition of encephalopathy and visual disturbances is crucial for timely intervention.
- Understanding AIP's diverse clinical spectrum is vital for effective patient management.
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