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A YOUNG GIRL WITH FITS.
Journal of Ayub Medical College, Abbottabad : JAMC
|July 18, 2015
Summary
A young girl experienced seizures, vomiting, and pain. Her urine tested positive for porphobilinogen, indicating a potential metabolic disorder, and she improved with dextrose therapy.
Area of Science:
- Biochemistry
- Pediatrics
- Neurology
Background:
- Porphyrias are a group of genetic disorders affecting heme synthesis.
- Acute intermittent porphyria (AIP) is a common form presenting with neurological and abdominal symptoms.
Observation:
- A pediatric patient presented with acute neurological and gastrointestinal symptoms including seizures, vomiting, and epigastric pain.
- Standard neurological and cerebrospinal fluid (CSF) investigations were unremarkable.
Findings:
- Urine screening for porphobilinogen was positive, suggesting acute porphyria.
- The patient showed significant clinical improvement with intravenous dextrose and a hypercaloric diet.
Implications:
- This case highlights the importance of considering metabolic disorders like acute porphyria in pediatric patients with unexplained neurological and gastrointestinal symptoms.
- Early diagnosis and prompt management with supportive care, including nutritional support, can lead to favorable outcomes.