Case Report
Neurological Variability in Acute Intermittent Porphyria: Case Reports to Highlight the Focus on Different Neurological Manifestations
Mishra N* and Raut T
Department of Neurology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India
*Corresponding author:Neha Mishra, Department of Neurology, Kokilaben Dhirubhai Ambani Hospital, Mumbai, Maharashtra, India. E-mail Id: Nehamdoc94@gmail.com
Article Information:Submission: 11/02/2025; Accepted: 10/03/2025; Published: 14/03/2025
Copyright: © 2025 Mishra N, et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Abstract
Acute intermittent porphyria (AIP) is a genetic condition due to deficiency of porphobilinogen deaminase enzyme in the heme synthesis pathway. It has an autosomal dominant inheritance. Its manifestation includes abdominal pain, peripheral neuropathy, autonomic symptoms and renal involvement.[1]We report similar cases of a young female presenting as pure motor quadriparesis and another man with seizure and posterior reversible encephalopathy syndrome.
A 17-year-old female presented with severe intermittent abdominal pain, vomiting, followed by muscle weakness and thinning of all four limbs. She underwent various investigations before AIP was suspected. High levels of urine porphobilinogen and nerve conduction study suggestive of pure motor neuropathy were identified. Therefore, AIP was the possible diagnosis. She had a partial recovery; her clinical course of the attack episode lasted for 8 weeks.
Another 18-year-old man came with severe abdominal pain and vomiting 4 days following anterior cruciate ligament repair of right knee. He underwent endoscopy for the same and ended up with a diagnosis of erosive gastritis. A week later he developed an episode of generalised tonic clonic seizure and neuroimaging showed PRESS. He was detected to have heterozygous mutation in hydroxy-methyl bilane synthase gene, thus confirming the diagnosis of porphyria.
A 17-year-old female presented with severe intermittent abdominal pain, vomiting, followed by muscle weakness and thinning of all four limbs. She underwent various investigations before AIP was suspected. High levels of urine porphobilinogen and nerve conduction study suggestive of pure motor neuropathy were identified. Therefore, AIP was the possible diagnosis. She had a partial recovery; her clinical course of the attack episode lasted for 8 weeks.
Another 18-year-old man came with severe abdominal pain and vomiting 4 days following anterior cruciate ligament repair of right knee. He underwent endoscopy for the same and ended up with a diagnosis of erosive gastritis. A week later he developed an episode of generalised tonic clonic seizure and neuroimaging showed PRESS. He was detected to have heterozygous mutation in hydroxy-methyl bilane synthase gene, thus confirming the diagnosis of porphyria.
Keywords:Porphyria; Neuropathy; Press