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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
PubMed

Insights

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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