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Lethal Encephalopathy

MedGen UID:
893570
•Concept ID:
CN239368
•
Disease or Syndrome

Professional guidelines

PubMed

Diagnosis and management of ANCA-associated vasculitis.
Kronbichler A, Bajema IM, Bruchfeld A, Mastroianni Kirsztajn G, Stone JH
Lancet 2024 Feb 17;403(10427):683-698. doi: 10.1016/S0140-6736(23)01736-1. PMID: 38368016
Glioblastoma Treatment: State-of-the-Art and Future Perspectives.
Rodríguez-Camacho A, Flores-Vázquez JG, Moscardini-Martelli J, Torres-Ríos JA, Olmos-Guzmán A, Ortiz-Arce CS, Cid-Sánchez DR, Pérez SR, Macías-González MDS, Hernández-Sánchez LC, Heredia-Gutiérrez JC, Contreras-Palafox GA, Suárez-Campos JJE, Celis-López MÁ, Gutiérrez-Aceves GA, Moreno-Jiménez S
Int J Mol Sci 2022 Jun 29;23(13) doi: 10.3390/ijms23137207. PMID: 35806212Free PMC Article
Neuroleptic Malignant Syndrome: Diagnosis and Management.
Ware MR, Feller DB, Hall KL
Prim Care Companion CNS Disord 2018 Jan 4;20(1) doi: 10.4088/PCC.17r02185. PMID: 29325237

Recent clinical studies

Etiology

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A, Haberler C, Patsch J, Ertl DA, Sadeghi K, Freilinger M, Lang S, Schmook M, Plecko B, Haeusler G
Horm Res Paediatr 2021;94(9-10):390-398. Epub 2021 Oct 21 doi: 10.1159/000520341. PMID: 34673643
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS
Brain 2013 May;136(Pt 5):1534-43. Epub 2013 Mar 12 doi: 10.1093/brain/awt054. PMID: 23482991

Diagnosis

Lethal Encephalopathy in an Infant with Hypophosphatasia despite Enzyme Replacement Therapy.
Raimann A, Haberler C, Patsch J, Ertl DA, Sadeghi K, Freilinger M, Lang S, Schmook M, Plecko B, Haeusler G
Horm Res Paediatr 2021;94(9-10):390-398. Epub 2021 Oct 21 doi: 10.1159/000520341. PMID: 34673643
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS
Brain 2013 May;136(Pt 5):1534-43. Epub 2013 Mar 12 doi: 10.1093/brain/awt054. PMID: 23482991
Acute lethal encephalopathy in systemic juvenile rheumatoid arthritis.
Ueno H, Katamura K, Hattori H, Yamaguchi Y, Nakahata T
Pediatr Neurol 2002 Apr;26(4):315-7. doi: 10.1016/s0887-8994(01)00394-0. PMID: 11992763
Lethal encephalopathy complicating childhood shigellosis.
Plötz FB, Arets HG, Fleer A, Gemke RJ
Eur J Pediatr 1999 Jul;158(7):550-2. doi: 10.1007/s004310051144. PMID: 10412812

Therapy

Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.
Shuper A, Stein J, Goshen J, Kornreich L, Yaniv I, Cohen IJ
J Child Neurol 2000 Jul;15(7):481-3. doi: 10.1177/088307380001500711. PMID: 10921521
Wernicke's lethal encephalopathy in voluntary, total, prolonged fasting.
Falzi G, Ronchi E
Forensic Sci Int 1990 Aug;47(1):17-20. doi: 10.1016/0379-0738(90)90281-3. PMID: 2210549

Prognosis

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F
Neurogenetics 2022 Oct;23(4):257-270. Epub 2022 Jul 11 doi: 10.1007/s10048-022-00696-3. PMID: 35819538
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS
Brain 2013 May;136(Pt 5):1534-43. Epub 2013 Mar 12 doi: 10.1093/brain/awt054. PMID: 23482991
Acute lethal encephalopathy in systemic juvenile rheumatoid arthritis.
Ueno H, Katamura K, Hattori H, Yamaguchi Y, Nakahata T
Pediatr Neurol 2002 Apr;26(4):315-7. doi: 10.1016/s0887-8994(01)00394-0. PMID: 11992763
Subacute central nervous system degeneration in a child: an unusual manifestation of ifosfamide intoxication.
Shuper A, Stein J, Goshen J, Kornreich L, Yaniv I, Cohen IJ
J Child Neurol 2000 Jul;15(7):481-3. doi: 10.1177/088307380001500711. PMID: 10921521
Lethal encephalopathy complicating childhood shigellosis.
Plötz FB, Arets HG, Fleer A, Gemke RJ
Eur J Pediatr 1999 Jul;158(7):550-2. doi: 10.1007/s004310051144. PMID: 10412812

Clinical prediction guides

Identification of a novel homozygous mutation in NAXE gene associated with early-onset progressive encephalopathy by whole-exome sequencing: in silico protein structure characterization, molecular docking, and dynamic simulation.
Maalej M, Sfaihi L, Ammar M, Frikha F, Kharrat M, Alila-Fersi O, Mkaouar-Rebai E, Tlili A, Kammoun T, Fakhfakh F
Neurogenetics 2022 Oct;23(4):257-270. Epub 2022 Jul 11 doi: 10.1007/s10048-022-00696-3. PMID: 35819538
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L, Bruni F, Ronan A, Briggs TA, Roscioli T, Rice GI, Vassallo G, Rodero MP, He L, Taylor RW, Livingston JH, Chrzanowska-Lightowlers ZMA, Crow YJ
Neuropediatrics 2020 Jun;51(3):178-184. Epub 2019 Nov 28 doi: 10.1055/s-0039-3400979. PMID: 31779033
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy.
Kevelam SH, Bugiani M, Salomons GS, Feigenbaum A, Blaser S, Prasad C, Häberle J, Baric I, Bakker IM, Postma NL, Kanhai WA, Wolf NI, Abbink TE, Waisfisz Q, Heutink P, van der Knaap MS
Brain 2013 May;136(Pt 5):1534-43. Epub 2013 Mar 12 doi: 10.1093/brain/awt054. PMID: 23482991

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