A YOUNG GIRL WITH FITS

Imran Ahmed, Ejaz Ahmed, Badshah Hussain Zaidi, Jawad Khaliq Ansari, Shazia Nisar

Abstract


A young girl presented with fits vomiting and epigastric pain. Investigations including CT-Scan brain, MRI brain, MRV brain and cerebrospinal fluid (CSF) examination were normal. Her urine was screened for porphobilinogen which was positive. She responded to intravenous dextrose and hypercaloric diet

Keywords: Porphyria,Porphobilinoge,Haeme arginate

Full Text:

PDF

References


Anderson KE, Sassa S, Bishop DF, Desnick RJ. Disorders of heme biosynthesis: X-linked sideroblastic anemias and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, eds. The metabolic and molecular basis of inherited disease. 8th ed. New York: McGraw-Hill, 2001; p.2991–3062.

Cojocaru IM, Sapira V, Socoliuc G, Hertea C, Balea M, Ursache C, et al. Acute intermittent Porphyria, diagnostic and treatment traps. Rom J Intern Med 2012;50(1):33–41.

Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Peirach CA, Pimstone NR, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Ann Intern Med 2005;142(6):439–50.

Foran SE, Abel G. Guide to Porphyrias, A historical and clinical perspective. Am J Clin Pathol 2003;119 Suppl:S86–93.

Tenhunen R, Mutsajoki P. Acute porphyria:treatment with heme. Semin Liver Dis 1998;18(1):51–3.

Grandchamp B. Acute intermittent porphyria. Semin Liver Dis 1998;18(1):17–24.


Refbacks

  • There are currently no refbacks.


Contact Number: +92-992-382571

email: [jamc] [@] [ayubmed.edu.pk]