Results 1 to 10 of about 7,060 (131)

Nonconvulsive status epilepticus secondary to acute porphyria crisis [PDF]

Epilepsy and Behavior Case Reports, 2019
Both variegate and acute intermittent porphyria can manifest with various neurological symptoms. Although acute symptomatic seizures have been previously described, they are typically tonic–clonic and focal impaired awareness seizures.
Sara Dawit, Shubhang K. Bhatt, Devika M. Das, Andrew R. Pines, Harn J. Shiue, Brent P. Goodman, Joseph F. Drazkowski, Joseph I. Sirven   +7 more
doaj   +2 more sources

Consideration of Acute Porphyria in an Emergency Department Patient: A Case Report and Discussion of Common Pitfalls [PDF]

Clinical Practice and Cases in Emergency Medicine, 2022
Introduction: Porphyria refers to a group of disorders associated with defects in heme synthesis. They can be associated with severely debilitating features, including abdominal pain, psychiatric symptoms, neurological defects, and cardiovascular ...
Anthony Rios, Lisa Kehrberg, Hillary E. Davis   +2 more
doaj   +2 more sources

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

Clin Case Rep
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
Sadeghi P, Ghahvechi Akbari M, Hassani SA, Alimadadi H, Heidari M, Ziaee V.   +5 more
europepmc   +2 more sources

A Rare Clinical Presentation of Variegate Porphyria. [PDF]

Mol Genet Genomic Med
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.
Viakhireva I, Murtazina A, Orlova A, Makretskaya N, Nikitin S, Skoblov M.   +5 more
europepmc   +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

Acute intermittent porphyria: a test of clinical acumen

Journal of Community Hospital Internal Medicine Perspectives, 2017
Acute intermittent porphyria (AIP) is a rare autosomal dominant hepatic porphyria due to deficiency of hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase leading to accumulation of porphyrin precursors.
Rashmi Dhital, Sijan Basnet, Dilli Ram Poudel, Khema Raj Bhusal   +3 more
doaj   +2 more sources

Acute porphyrias – A neurological perspective

Brain and Behavior, 2021
Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic, and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation, delayed diagnosis and misdiagnosis are common. AHPs
Lea M. Gerischer, Franziska Scheibe, Astrid Nümann, Martin Köhnlein, Ulrich Stölzel, Andreas Meisel   +5 more
doaj   +1 more source

Porphyria: a case report

Journal of Medical Case Reports, 2022
Background Prompt diagnosis of metabolic disorders in a resource-limited country like Nepal is daunting. Acute intermittent porphyria is a rare but common hepatic porphyria mostly seen in females of the reproductive age group.
Sujata Baidya, Pratibha Kandel, Smrity Rajkarnikar, Anuradha Kadel, Apeksha Niraula, Raju Kumar Dubey, Machhindra Lamichhane, Mithileshwer Raut, Aseem Bhattarai, Eans Tara Tuladhar, Vijay Kumar Sharma   +10 more
doaj   +1 more source

Acute Hepatic Porphyria – Minireview [PDF]

Modern Medicine, 2023
Acute Hepatic Porphyria (AHP) is an uncommon and hereditary illness that belongs to a group of disorders known as porphyries. This condition results from a deficiency of the porphobilinogen deaminase enzyme, which plays a role in heme production, a ...
Aida SAVU, Andrei EDU, Lucian NEGREANU
doaj   +1 more source

Acute intermittent porphyria exacerbation following in vitro fertilization treatment

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objectives: Assisted reproductive technology is commonly used for women with infertility. We report a case of acute intermittent porphyria associated with in vitro fertilization treatment.
Geok Huey New, Pei-Yang Hsu, Meng-Hsing Wu   +2 more
doaj   +1 more source