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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   +4 more sources

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

An overview of the cutaneous porphyrias [version 1; referees: 2 approved] [PDF]

F1000Research, 2017
This is an overview of the cutaneous porphyrias. It is a narrative review based on the published literature and my personal experience; it is not based on a formal systematic search of the literature.
Robert Dawe
doaj   +5 more sources

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

Ann Clin Transl Neurol
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 ...
Pacut P, Cannon J, Dixit N, Fan Q.
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 caused by novel mutation in HMBS gene, misdiagnosed as cholecystitis

Neuropsychiatric Disease and Treatment, 2014
Majid Alfadhel,1,3 Neam Saleh,2 Helal Alenazi,2 Henry Baffoe-Bonnie21Division of Genetics, Department of Pediatrics, 2Division of General Medicine, Department of Medicine, King Abdulaziz Medical City, Riyadh, Kingdom of Saudi Arabia; 3College of Medicine,
Alfadhel M, Saleh N, Alenazi H, Baffoe-Bonnie H   +3 more
doaj   +3 more sources

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

Clin Case Rep
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.
Eichler J, Albrecht S, Huber LC.
europepmc   +2 more sources

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

JIMD Rep
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,
Clark J, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

Acute porphyria presenting as abdominal pain in pregnancy. [PDF]

CMAJ, 2021
Sohail QZ, Khamisa K.
europepmc   +3 more sources

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]

, 2020
PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bonkovsky, Herbert L, Desnick, Robert J, Erwin, Angelika, Keel, Siobán, Levy, Cynthia, McGuire, Brendan, Montgomery, Guy H, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Wang, Bruce, Winkel, Gary   +14 more
core   +1 more source