Results 11 to 20 of about 3,228 (129)

Acute Intermittent Porphyria Triggered by COVID‐19 Mimicking Guillain–Barré Syndrome: A Diagnostic Challenge [PDF]

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare heme biosynthesis disorder in which the accumulation of neurotoxic porphyrin precursors precipitates neurovisceral attacks. Intercurrent infections, including coronavirus disease 2019 (COVID‐19), may trigger or exacerbate AIP and complicate diagnosis, as clinical manifestations can resemble those of
Payman Sadeghi, Masood Ghahvechi Akbari, Seyed Abbas Hassani, Hosein Alimadadi, Morteza Heidari, Vahid Ziaee   +5 more
wiley   +2 more sources

Biallelic pathogenic hydroxymethylbilane synthase gene variants of a neurodegenerative disorder with progressive cystic leukoencephalopathy: a case report [PDF]

Journal of Medical Case Reports
Background Heterozygous mutations of the hydroxymethylbilane synthase gene can lead to acute intermittent porphyria, with episodic abdominal pain and neuropsychiatric symptoms.
Gabriel Schacht, Miriam Elbracht, Anna-Elisabeth Minder, Thomas Stauch, Arzu Stoppe, Eva Lausberg, Martin Häusler   +6 more
doaj   +2 more sources

Unraveling Protracted Neuropsychiatric Symptoms in a Patient With Altered Post‐Bariatric Pharmacokinetics: A Diagnostic Puzzle [PDF]

Case Reports in Psychiatry, Volume 2026, Issue 1, 2026.
Objective To report a complex case of serotonin toxicity that evolved into a persistent neuropsychiatric syndrome, complicating the differential diagnosis between protracted toxicity, prolonged SSRI discontinuation syndrome, acute hepatic porphyria, and functional neurological disorder (FND).
Akbar Ali, Christopher E. Potts, Dakota May, Nikhat Kaura   +3 more
wiley   +2 more sources

The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias [PDF]

Annals of Clinical and Translational Neurology, Volume 13, Issue 3, Page 639-640, March 2026.
ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut, Joy Cannon, Neel Dixit, Qihua Fan   +3 more
wiley   +2 more sources

A Rare Clinical Presentation of Variegate Porphyria [PDF]

Molecular Genetics &Genomic Medicine, Volume 14, Issue 6, June 2026.
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
I. Viakhireva, A. Murtazina, A. Orlova, N. Makretskaya, S. Nikitin, M. Skoblov   +5 more
wiley   +2 more sources

Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report [PDF]

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Jeremy Clark, Joel Smith, Yoke Leong, Virginia Cronin, Ingrid Winship, Gayle Ross, Timothy Fazio   +6 more
wiley   +2 more sources

Lead Poisoning Revealed by Unexplained Abdominal Pain and Anemia in a Young Adult: A Diagnostic Challenge [PDF]

Clinical Case Reports, Volume 14, Issue 3, March 2026.
ABSTRACT Lead poisoning should be considered in patients presenting with unexplained anemia and abdominal pain, even without clear environmental or occupational exposure. Recognizing classic signs such as Burton's line and basophilic stippling enables timely diagnosis and effective chelation therapy.
Jennifer Eichler, Sarah Albrecht, Lars C. Huber   +2 more
wiley   +2 more sources

Successful Pregnancy After Combined Liver and Renal Transplantation in a Patient With Acute Intermittent Porphyria [PDF]

Case Reports in Transplantation
Acute intermittent porphyria is a rare inborn disease of porphyrin metabolism which can cause severe abdominal pain attacks and neurological symptoms. Here, we report a patient with a 20-year history of severe chronic manifestations of acute intermittent
Petro E. Petrides, Joachim Andrassy, Markus Guba, Manfred Stangl, Olivia Bronisch, Maria K. Beykirch   +5 more
doaj   +2 more sources

Unmasked acute intermittent porphyria in a patient with COVID-19-associated posterior reversible encephalopathy syndrome [PDF]

BMC Neurology
Background Acute intermittent porphyria (AIP) is a rare but treatable disease. COVID-19 has various possible complications including posterior reversible encephalopathy syndrome (PRES).
Hideo Handa, Hiroki Masuda, Satoki Hanayama, Amika Kajiyama, Sawako Suzuki, Atsuhiko Sugiyama, Koutaro Yokote, Satoshi Kuwabara   +7 more
doaj   +2 more sources

Acute Intermittent Porphyria, Posterior Reversible Encephalopathy Syndrome and Hypertensive Emergency, A Review of The Literature

Egyptian Journal of Critical Care Medicine, 2020
Acute intermittent porphyria is an autosomal dominant inborn error characterized by decreased activity of porphobilinogen deaminase leading to increased levels of haem precursors, namely aminolevulinic acid and porphobilinogen.
Mohamed A. Ahmed, Mahmoud Abdelnabi, Abdallah Almaghraby   +2 more
doaj   +1 more source