Neurological and neuropsychiatric manifestations of porphyria

References

• Tracy JA, Dyck P. Porphyria and its neurologic manifestations. Handb Clin Neurol. 2014;120:839–49.
   Google Scholar
• Anderson KE, Spitz IM, Sassa S, et al. Prevention of cyclical attacks of acute intermittent porphyria with a long-acting agonist of luteinizing hormone-releasing hormone. N Engl J Med. 1984;311:643–645.
   PubMed Web of Science ®Google Scholar
• Schultz JH. Ein fall von pemphigus leprosus, kompliziert durch lepra visceralis [Inaugural Dissertation]. Griefswald; 1874.
   Google Scholar
• Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol. 2002;117:779–795.
   PubMed Web of Science ®Google Scholar
• Phillips JD, Steensma DP, Pulsipher MA, et al. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007;109:2618–2621.
   PubMed Web of Science ®Google Scholar
• Goldberg A. The porphyrias. Historical perspective. Clin Dermatol. 1998;16:189–193.
   PubMed Web of Science ®Google Scholar
• Stokvis BJ. Zur pathogenese der hamatoporphyrinurie. Z Klin Med. 1895;28:1–21.
   Google Scholar
• Handschin C, Lin J, Rhee J, et al. Nutritional regulation of hepatic heme biosynthesis and porphyria through PGC-1alpha. Cell. 2005;122:505–515.
   PubMed Web of Science ®Google Scholar
• Elder GH, Evans JO, Thomas N. The primary enzyme defect in hereditary coproporphyria. Lancet. 1976;2:1217–1219.
   PubMed Web of Science ®Google Scholar
• Brodie MJ, Thompson GG, Moore MR, et al. Hereditary Coproporphyria demonstration of the abnormalities in haem biosynthesis in peripheral blood. QJM. 1977;46:229–241.
   PubMed Web of Science ®Google Scholar
• Brodie MJ, Thompson GG, Moore MR, et al. Hereditary coproporphyria: demonstbation of the abnormalities in haem biosynthesis in pebiphebal blood [Article]. Q J Med. 1977;46:229–241.
   PubMedGoogle Scholar
• Floderus Y, Shoolingin-Jordan PM, Harper P. Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene. Clin Genet. 2002;62:288–297.
   PubMed Web of Science ®Google Scholar
• Andersson C, Floderus Y, Wikberg A, et al. The W198X and R173W mutations in the porphobilinogen deaminase gene in acute intermittent porphyria have higher clinical penetrance than R167W. A population-based study [Article]. Scand J Clin Lab Invest. 2000;60:643–648.
   PubMed Web of Science ®Google Scholar
• Kevelam SH, Neeleman RA, Waisfisz Q, et al. Acute intermittent porphyria-related leukoencephalopathy. Neurology. 2016;87:1258–1265.
   PubMed Web of Science ®Google Scholar
• King PH, Petersen NE, Rakhra R, et al. Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation. Neurology. 2002;58:1118–1121.
   PubMed Web of Science ®Google Scholar
• Kuo HC, Ro LS, Jung SM, et al. Porphyric neuropathies in an acute intermittent porphyria family. Neuropathology. 2016;36:290–294.
   PubMed Web of Science ®Google Scholar
• Shen J, O’Keefe K, Webb LB, et al. Acute porphyria in a patient with Arnold Chiari malformation. Am J Case Rep. 2015;16:99–103.
   PubMed Web of Science ®Google Scholar
• Martins CR, Bandeira BES, Martinez ARM, et al. Porphyria and anorexia: cause and effect. Oxf Med Case Rep. 2014;2014:151–152.
   PubMedGoogle Scholar
• Taketani S, Inazawa J, Abe T, et al. The human protoporphyrinogen oxidase gene (PPOX): organization and location to chromosome 1. Genomics. 1995;29:698–703.
   PubMed Web of Science ®Google Scholar
• Susa S, Sato-Monma F, Ishii K, et al. Transient worsening of photosensitivity due to cholelithiasis in a variegate porphyria patient. Intern Med. 2016;55:2965–2969.
   PubMed Web of Science ®Google Scholar
• Thadani H, Deacon A, Peters T. Diagnosis and management of porphyria. BMJ. 2000;320:1647–1651.
   PubMed Web of Science ®Google Scholar
• Kuo HC, Huang CC, Chu CC, et al. Neurological complications of acute intermittent porphyria. Eur Neurol. 2011;66:247–252.
   PubMed Web of Science ®Google Scholar
• Nabin A, Thapa LJ, Paudel R, et al. Acute intermittent porphyria with SIADH and fluctuating dysautonomia. Kathmandu Univ Med J. 2013;10:96–99.
   Google Scholar
• Wessels T, Blaes F, Rottger C, et al. [Cortical amaurosis and status epilepticus with acute porphyria]. Nervenarzt. 2005;76:992–995. 997–998.
   PubMed Web of Science ®Google Scholar
• Pischik E, Kauppinen R. Neurological manifestations of acute intermittent porphyria. Cell Mol Biol (Noisy-le-grand). 2009;55:72–83.
   PubMed Web of Science ®Google Scholar
• Shen FC, Hsieh CH, Huang CR, et al. Acute intermittent porphyria presenting as acute pancreatitis and posterior reversible encephalopathy syndrome. Acta Neurol Taiwan. 2008;17:177–183.
   PubMedGoogle Scholar
• Gurses C, Durukan A, Sencer S, et al. A severe neurological sequela in acute intermittent porphyria: presentation of a case from encephalopathy to quadriparesis. Br J Radiol. 2008;81:e135–40.
   PubMedGoogle Scholar
• Shen J, O’Keefe K, Webb LB, et al. Acute porphyria in a patient with Arnold Chiari malformation. Am J Case Rep. 2015;16:99–103.
   PubMed Web of Science ®Google Scholar
• Convert H, Vedie C. [State of dementia due to intermittent acute porphyria: a case report]. L’Encephale. 2014;40:345–350.
   PubMed Web of Science ®Google Scholar
• Gazquez Sistere I, Lujan Mavila K, Chorda Ribelles J, et al. [Acute intermittent porphyria: a diagnostic dilemma]. Gastroenterologia y hepatologia. 2010;33:436–439.
   PubMed Web of Science ®Google Scholar
• Asselbergs FW, Kremer Hovinga TK, Bouwsma C, et al. Acute intermittent porphyria as a cause of respiratory failure: case report. Am J Crit Care. 2009;18(2): 178–180.
   Web of Science ®Google Scholar
• Olivier P, Van Melkebeke D, Honore PJ, et al. Cerebral vasospasm in acute porphyria. Eur J Neurol. 2017;24:1183–1187.
   PubMed Web of Science ®Google Scholar
• Susa S, Daimon M, Morita Y, et al. Acute intermittent porphyria with central pontine myelinolysis and cortical laminar necrosis. Neuroradiology. 1999;41:835–839.
   PubMed Web of Science ®Google Scholar
• Mullin S, Platts A, Randhawa K, et al. Cerebral vasospasm and anterior circulation stroke secondary to an exacerbation of hereditary corproporphyria. Pract Neurol. 2012;12:384–387.
   PubMedGoogle Scholar
• Goren MB, Chen C. Acute intermittent porphyria with atypical neuropathy. South Med J. 1991;84:668–669.
   PubMed Web of Science ®Google Scholar
• Kupferschmidt H, Bont A, Schnorf H, et al. Transient cortical blindness and bioccipital brain lesions in two patients with acute intermittent porphyria. Ann Intern Med. 1995;123:598–600.
   PubMed Web of Science ®Google Scholar
• Younger DS, Tanji K. Demyelinating neuropathy in genetically confirmed acute intermittent porphyria. Muscle Nerve. 2015;52:916–917.
   PubMed Web of Science ®Google Scholar
• Sylantiev C, Schoenfeld N, Mamet R, et al. Acute neuropathy mimicking porphyria induced by aminolevulinic acid during photodynamic therapy. Muscle Nerve. 2005;31:390–393.
   PubMed Web of Science ®Google Scholar
• Celik M, Forta H, Dalkilic T, et al. MRI reveals reversible lesions resembling posterior reversible encephalopathy in porphyria. Neuroradiology. 2002;44:839–841.
   PubMed Web of Science ®Google Scholar
• Rivero Sanz E, Camacho Velasquez JL, Santos Lasaosa S, et al. Neuroimaging abnormalities in a patient with posterior reversible encephalopathy syndrome due to acute intermittent porphyria. Neurologia (Barcelona, Spain). 2016;31:580–583.
   PubMed Web of Science ®Google Scholar
• Lakhotia M, Pahadiya HR, Singh J, et al. Posterior reversible encephalopathy syndrome as a rare presenting feature of acute intermittent porphyria. Neurol India. 2015;63:607–609.
   PubMed Web of Science ®Google Scholar
• Zhao B, Wei Q, Wang Y, et al. Posterior reversible encephalopathy syndrome in acute intermittent porphyria. Pediatr Neurol. 2014;51:457–460.
   PubMed Web of Science ®Google Scholar
• Schutte CM, van der Meyden CH, van Niekerk L, et al. Severe porphyric neuropathy–importance of screening for porphyria in Guillain-Barre syndrome. S Afr Med J. 2015;106:44–47.
   PubMed Web of Science ®Google Scholar
• Tziperman B, Garty BZ, Schoenfeld N, et al. Acute intermittent porphyria, Rasmussen encephalitis, or both?. J Child Neurol. 2007;22:99–105.
   PubMed Web of Science ®Google Scholar
• Jain R, Nagpal K, Vyas A. Challenges in the diagnosis and treatment of a case of acute intermittent porphyria in India [Letter]. J Postgrad Med. 2013;59:338–339.
   PubMed Web of Science ®Google Scholar
• Szymanska-Chabowska A, Skoczynska A, Chlebda E, et al. Acute intermittent porphyria coexisting with chronic postinfectious renal failure]. Polskie Archiwum Medycyny Wewnetrznej. 2004;112:953–959.
   PubMedGoogle Scholar
• Barraza G, Serranova T, Herrero C, et al. Brainstem dysfunction in variegate porphyria. Muscle Nerve. 2012;46:426–433.
   PubMed Web of Science ®Google Scholar
• Buttery JE, Carrera AM, Pannall PR. Reliability of the porphobilinogen screening assay. Pathology. 1990;22:197–198.
   PubMed Web of Science ®Google Scholar
• Hift RJ, Davidson BP, van der HC, et al. Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard. Clin Chem. 2004;50:915–923.
   PubMed Web of Science ®Google Scholar
• Singal AK, Parker C, Bowden C, et al. Liver transplantation in the management of porphyria. Hepatology (Baltimore, Md). 2014;60:1082–1089.
   PubMed Web of Science ®Google Scholar
• Popova VN, Tsyganova AM. [Neurologic manifestations of acute intermittent porphyria provoked by the use of barbiturates and estrogens (clinico-biochemical findings)]. Zh Nevropatol Psikhiatr Im S S Korsakova. 1971;71:541–544.
   PubMedGoogle Scholar
• Buzaleh AM, de Salamanca RE, Batlle A. Porphyrinogenic properties of the anesthetic enflurane. Gen Pharmacol. 1992;23:665–669.
   PubMedGoogle Scholar
• Buzaleh AM, de Salamanca RE, Del Carmen Batlle AM. Administration of the anesthetic isoflurane to mice: A model for acute intermittent porphyria?. J Pharmacol Toxicol Methods. 1992;28:191–197.
   PubMed Web of Science ®Google Scholar
• Sampayo R, Lavandera JV, Batlle A, et al. Sevoflurane: its action on heme metabolism and Phase I drug metabolizing system. Cell Mol Biol (Noisy-le-grand). 2009;55:140–146.
   PubMed Web of Science ®Google Scholar
• James MFM, Hift RJ. Porphyrias. Br J Anaesth. 2000;85:143–153.
   PubMed Web of Science ®Google Scholar
• Eales L. Porphyria and the dangerous life-threatening drugs. S Afr Med J. 1979;56:914–917.
   PubMed Web of Science ®Google Scholar
• Dundee JW, Riding JE. Barbiturate narcosis in porphyria. Anaesthesia. 1955;10:55–58.
   PubMedGoogle Scholar
• Dershwitz M. Intravenous and inhalation anesthetics. In: William HE, ed. Clinical Anesthesia Procedures of the Massachusetts General Hospital. 6th edn. Philadelphia: Lippinkott Williams and Wilkins, 2002: 156–158.
   Google Scholar
• Park EY, Kim YS, Lim K-J, et al. Severe neurologic manifestations in acute intermittent porphyria developed after spine surgery under general anesthesia: a case report. Korean J Anesthesiol. 2014;67:217–220.
   PubMedGoogle Scholar
• Kostrzewska E, Gregor A, Lipinska D. Ketamine in acute intermittent porphyria-dangerous or safe? Anesthesiology. 1978;49:376–376.
   PubMed Web of Science ®Google Scholar
• de Verneuil H, Deybach J-C, Phung N, et al. Study of anaesthetic agents for their ability to elicit porphyrin biosynthesis in chick embryo liver. Biochem Pharmacol. 1983;32:1011–1018.
   PubMed Web of Science ®Google Scholar
• Baronica R, Prlić K, Čalušić M, et al. Perioperative management of porphyria: a case report. Signa Vitae. 2015;10:63–65.
   Google Scholar
• Ferrer MD, Tauler P, Sureda A, et al. Variegate porphyria induces plasma and neutrophil oxidative stress: effects of dietary supplementation with vitamins E and C. Br J Nutr. 2010;103:69–76.
   PubMed Web of Science ®Google Scholar
• Durmus M, Turkoz A, Togal T, et al. Remifentanil and acute intermittent porphyria. Eur J Anaesthesiol (EJA). 2002;19:839–840.
   PubMed Web of Science ®Google Scholar
• Simon NG, Herkes GK. The neurologic manifestations of the acute porphyrias. J Clin Neurosci. 2011;18:1147–1153.
   PubMed Web of Science ®Google Scholar
• Tsao YC, Niu DM, Chen JT, et al. Gabapentin reduces neurovisceral pain of porphyria. Acta Neurol Taiwan. 2010;19:112–115.
   PubMedGoogle Scholar