Bilateral reversible visual loss secondary to undiagnosed acute porphyria in a child


  • Wendy Yen Nee See
  • Lausanne Chua



porphyria, acute porphyria, vision loss, loss of vision, blindness, neuroophthalmology, child, children, posterior reversible encephalopathy syndrome, PRES, delta-aminolevulinic acid, ALA, porphyrinogenic


The porphyrias are a group of disorders, often genetic, characterized by systemic or localized accumulation of porphyrins, precursors of the iron metalloprotein heme.  Acute porphyria is a descriptive category of the porphyrias in which patients present with sudden onset neurologic symptoms or attacks of pain.  Ocular and visual manifestations of porphyria are rare.  In this case report, a 9-year-old girl, with no past medical history, experienced bilateral visual loss.  She was diagnosed with acute porphyria with autonomic dysfunction, including neuropathic abdominal pain, peripheral neuropathy, seizure, and labile hypertension.  After seizure control and blood pressure regulation, the patient was treated with intravenous dextrose and a high carbohydrate diet, and her vision loss recovered to a visual acuity of 20/40 bilaterally.


Bhuyan S, Sharma AK, Sureka RK, et al. Sudden bilateral reversible vision loss: a rare presentation of acute intermittent porphyria. The Journal of the Association of Physicians of India 2014; 62(5):432-4.

Khadilkar SV, Yadav RS, Patel BA. Porphyrias. In: Khandikar SV, et al., editors. Neuromuscular Disorders. Singapore: Springer Nature 2018:493-502.

Balwani M, Desnick RJ. The porphyrias: advances in diagnostic and treatment. Blood 2012; 120(23):4496-504.

Cappellini MD, Brancaleoni V, Graziadei G, et al. Porphyrias at a glance: diagnosis and treatment. Internal and Emergency Medicine 2010; 5(1): 73-80.

Anderson KE, Bloomer JR, Bonkovsky HL, et al. Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine 2005; 142(6): 439-50.

Sati A, Sangwan VS, Basu S. Porphyria: varied ocular manifestations and management. BMJ Case Reports 2013; 22: 1-4.

Kupferschmidt H, Bont A, Schnorf H, et al. Transient cortical blindness and bioccipital brain lesions in two patients with acute intermittent porphyria. Annals of Internal Medicine 1995; 123(8): 598-600.

Zheng X, Liu X, Wang Y, et al. Acute intermitted porphyria presenting with seizures and posterior reversible encephalopathy syndrome: two case reports and a literature review. Medicine (Baltimore) 2018; 97(36): 1-8.

Roth C, Ferbert A. The posterior reversible encephalopathy syndrome: what's certain, what's new? Practical Neurology 2011; 11(3):136-44.

Hultdin J, Schmauch A, Wikberg A, et al. Acute intermittent porphyria in childhood: a population‐based study. Acta Paediatrica 2003; 92(5): 562-8.





Original Articles