Results 21 to 30 of about 3,597 (170)
Journal of Anaesthesiology Clinical Pharmacology, 2015 17-year-old female, came with complaints of abdominal pain, vomitings, hypertension. Three days before admission she developed severe abdominal pain, backache and generalised body pains with extreme weakness. These symptoms worsened over 3 days, accompanied by nausea, vomiting, and emotional instability [1]. Her medical history is notable for 6 similar
Syal, Kartik +3 more
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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 +2 more
doaj +1 more source
Journal of Pediatric Critical Care, 2016 Acute intermittent porphyria is an inherited metabolic disease due to deficiency of the enzyme porphobilinogen deaminase that can affect the autonomic, peripheral and central nervous system.
Rishab Bharadwaj +2 more
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Nonconvulsive status epilepticus secondary to acute porphyria crisis
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 +7 more
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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 +10 more
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Acute intermittent porphyria: A case report [PDF]
Vojnosanitetski Pregled, 2021 Introduction. Acute intermittent porphyria is a rare inherited metabolic disorder caused by a decreased level of porphobilinogen deaminase. Subsequent accumulation of by-products in neural elements causes a classic triad of abdominal pain, neurological ...
Vulović Tatjana +3 more
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Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]
Liaquat National Journal of Primary CareA deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi +2 more
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A case of acute intermittent porphyria [PDF]
Canadian Anaesthetists’ Society Journal, 1966 Ce travail presente un cas clinique de porphyrie aigue intermittent—qui s’est manifeste neuf jours apres une anesthesie generale, par l’installation d’une quadriplegie. Les signes neurologiques ont evolue favorablement (corticotheropie et B.A.L.). Malheureusement ce malade est decede d’une complication de la corticotherapie ( hemorragie digestive ...
R, Chapados, B, Paiement
openaire +2 more sources
Many pitfalls in diagnosis of acute intermittent porphyria: a case report
BMC Research Notes, 2018 Background Acute intermittent porphyria is a rare autosomal dominant disorder caused by a deficiency of the enzyme, hydroxymethylbilane synthase. Recognition of acute neurovisceral attacks can be difficult due to the nonspecific nature of symptoms.
N. L. R. Indika +13 more
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A Rare Clinical Presentation of Variegate Porphyria. [PDF]
Mol Genet Genomic MedWGS 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 +5 more
europepmc +2 more sources