[Posterior reversible encephalopathy syndrome as a presentation of acute intermittent porphyria]. 2020

V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
Pirogov Russian National Research Medical University, Moscow, Russia.

The authors describe a clinical case of posterior reversible encephalopathy syndrome (PRES) in a 36-year-old female patient due to the first onset of not previously diagnosed acute intermittent porphyria. Only 22 clinical and radiological cases of the combination of PRES and acute porphyria were reported in the literature by 2018. This is the first report of a similar association confirmed by magnetic resonance imaging (MRI) in the Russian literature. The article describes the dynamics of the disease from unexplained abdominal pain to repeated epileptic paroxysms and subsequent formation of a detailed picture of encephalo- and polyneuropathy. The particularities of neurological presentations, the significance of epileptic paroxysms and MRI in the diagnosis of the abovementioned combined pathology are shown. Possible mechanisms causing both pathological processes are considered.

UI MeSH Term Description Entries
D008279 Magnetic Resonance Imaging Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. Chemical Shift Imaging,MR Tomography,MRI Scans,MRI, Functional,Magnetic Resonance Image,Magnetic Resonance Imaging, Functional,Magnetization Transfer Contrast Imaging,NMR Imaging,NMR Tomography,Tomography, NMR,Tomography, Proton Spin,fMRI,Functional Magnetic Resonance Imaging,Imaging, Chemical Shift,Proton Spin Tomography,Spin Echo Imaging,Steady-State Free Precession MRI,Tomography, MR,Zeugmatography,Chemical Shift Imagings,Echo Imaging, Spin,Echo Imagings, Spin,Functional MRI,Functional MRIs,Image, Magnetic Resonance,Imaging, Magnetic Resonance,Imaging, NMR,Imaging, Spin Echo,Imagings, Chemical Shift,Imagings, Spin Echo,MRI Scan,MRIs, Functional,Magnetic Resonance Images,Resonance Image, Magnetic,Scan, MRI,Scans, MRI,Shift Imaging, Chemical,Shift Imagings, Chemical,Spin Echo Imagings,Steady State Free Precession MRI
D005260 Female Females
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults
D012426 Russia A country located in north Asia bordering the Arctic Ocean, extending from Europe (the portion west of the Urals) to the North Pacific Ocean. The capital is Moscow. Russian S.F.S.R.,Russian Federation (Europe),Russian SFSR
D015746 Abdominal Pain Sensation of discomfort, distress, or agony in the abdominal region. Colicky Pain,Abdominal Pains,Colicky Pains,Pain, Abdominal,Pain, Colicky,Pains, Abdominal,Pains, Colicky
D017118 Porphyria, Acute Intermittent An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. Hydroxymethylbilane Synthase Deficiency,Uroporphyrinogen Synthase Deficiency,Acute Porphyria,PBGD Deficiency,Porphobilinogen Deaminase Deficiency,Porphyria, Swedish Type,UPS Deficiency,Acute Intermittent Porphyria,Acute Intermittent Porphyrias,Acute Porphyrias,Deaminase Deficiencies, Porphobilinogen,Deaminase Deficiency, Porphobilinogen,Deficiencies, Hydroxymethylbilane Synthase,Deficiencies, PBGD,Deficiencies, Porphobilinogen Deaminase,Deficiencies, UPS,Deficiencies, Uroporphyrinogen Synthase,Deficiency, Hydroxymethylbilane Synthase,Deficiency, PBGD,Deficiency, Porphobilinogen Deaminase,Deficiency, UPS,Deficiency, Uroporphyrinogen Synthase,Hydroxymethylbilane Synthase Deficiencies,Intermittent Porphyria, Acute,Intermittent Porphyrias, Acute,PBGD Deficiencies,Porphobilinogen Deaminase Deficiencies,Porphyria, Acute,Porphyrias, Acute,Porphyrias, Acute Intermittent,Porphyrias, Swedish Type,Swedish Type Porphyria,Swedish Type Porphyrias,Synthase Deficiencies, Hydroxymethylbilane,Synthase Deficiencies, Uroporphyrinogen,Synthase Deficiency, Hydroxymethylbilane,Synthase Deficiency, Uroporphyrinogen,Type Porphyria, Swedish,Type Porphyrias, Swedish,UPS Deficiencies,Uroporphyrinogen Synthase Deficiencies
D054038 Posterior Leukoencephalopathy Syndrome A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies). Leukoencephalopathy Syndrome, Posterior,Posterior Reversible Encephalopathy Syndrome,Reversible Posterior Leukoencephalopathy Syndrome,Leukoencephalopathy Syndromes, Posterior,Syndrome, Posterior Leukoencephalopathy,Syndromes, Posterior Leukoencephalopathy

Related Publications

V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
January 2016, Revue neurologique,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
January 2020, Annals of Indian Academy of Neurology,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
September 2014, Pediatric neurology,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
September 2008, Acta neurologica Taiwanica,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
January 2015, Neurology India,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
April 2010, Journal of neurology,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
January 2020, Revue neurologique,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
December 2020, Practical neurology,
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
January 2017, Internal medicine (Tokyo, Japan),
V V Gudkova, and T V Shanina, and E I Kimelfeld, and K A Salimov, and M A Orekhova, and E V Fedotov, and L V Stakhovskaya
October 2016, Neurologia (Barcelona, Spain),
Copied contents to your clipboard!