Leukoencephalopathy

Classification according to ICD-10
G93.4	Encephalopathy, unspecified
ICD-10 online (WHO version 2019)

The leukoencephalopathy (from Greek λευκός leukós , German , white ' , Greek ἐγκέφαλος enképhalos , German , brain' and ancient Greek πάθεια pátheia , German , suffering ' ) is a collective term for diseases of the white matter of the brain . In contrast to leukodystrophy with defined clinical pictures, this overarching term includes all white matter diseases of whatever cause and type.

The term is often used for:

• Progressive multifocal leukoencephalopathy
• Hereditary diffuse leukoencephalopathy with axonal spheroids
• reversible posterior leukoencephalopathy syndrome (RPLS)
• Megalencephalic Leukodystrophy , Synonyms: MLC; Megalencephaly - cystic leukodystrophy; Vacuolating myelinonopathy with subcortical cysts; Van der Knapp syndrome

With leukoaraiosis subcortical or microangiopathic form of leukoencephalopathy is called.

root cause

Leukoencephalopathy can be caused by

• inflammatory diseases such as multiple sclerosis , CNS vasculitis
• infectious diseases such as a JC virus infection with severe immunodeficiency
• metabolic diseases such as Fabry disease
• congenital diseases such as leukodystrophies
• Hypoxic - ischemic damage (hypoxic ischemic encephalopathy) as in leucomalacia
• toxic influences such as in toxic leukoencephalopathy z. B. after radiotherapy or chemotherapy
• vascular diseases such as hypertensive leukoencephalopathy

In the context of syndromes

In various syndromes , leukoencephalopathy can be present as a feature:

• Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
• ARSAL , synonyms: ataxia, spastic, autosomal recessive, type 3; SPAX3
• Hypomyelinated leukodystrophy, autosomal recessive, C11ORF73-associated , synonyms: Hypomyelinated leukodystrophy due to Hikeshi deficiency; Hypomyelinated leukoencephalopathy, autosomal recessive, C11ORF73-associated
• CACH syndrome , synonyms: infantile ataxia with diffuse hypomyelination of the CNS; Leukoencephalopathy with loss of white matter in the brain; Myelinosis centralis diffusa; Cree leukoencephalopathy; English Leukoencephalopathy with vanishing white matter
• CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy)
• CARASIL , synonyms: Maeda syndrome; Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy, autosomal recessive
• Leukencephalopathy, familial vascular, COL4A1-associated , synonyms: COL4A1-associated cerebral microangiopathy with hemorrhage; COL4A1-Associated Syndrome of Convoluted Retinal Arterioles with Infantile Hemiparesis and Leukoencephalopathy
• Cystic leukoencephalopathy without megalencephaly
• Leukoencephalopathy with bilateral anterior temporal lobe cysts
• Leukoencephalopathy with brain stem and spinal cord involvement - increased lactate (LBSL)
• Leukoencephalopathy with mild cerebellar ataxia and white matter edema
• Leukoencephalopathy - dystonia - motor neuropathy
• Leukoencephalopathy - metaphyseal chondrodysplasia
• Leukoencephalopathy - Palmoplantar Keratosis
• COXPD12 , synonyms: leukoencephalopathy-thalamus and brainstem abnormalities-high lactate syndrome; Combined defect of oxidative phosphorylation type 12; LTBL
• MNGIE syndrome
• Nasu Hakola disease
• Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
• Odontoleukodystrophy , Synonyms: Dento-leukoencephalopathy; Dentoleucoencephalopathy; Leukodystrophy with oligodontia
• PYCR2-dependent microcephaly-progressive leukoencephalopathy
• PADMAL , synonym: Pontine autosomal dominant microangiopathy with leukoencephalopathy
• Leukoencephalopathy, cavitating progressive
• Multifocal Progressive Leukoencephalopathy (PML)
• Retinal vasculopathy and cerebral leukoencephalopathy (RVCL)
• VPS11-associated autosomal recessive hypomyelinated leukodystrophy

diagnosis

The changes in the brain are recorded using medical imaging , usually magnetic resonance imaging or computed tomography .

literature

• T. Strunk, S. Gottschalk, W. Goepel, P. Bucsky, C. Schultz: Subacute leukencephalopathy after low-dose intrathecal methotrexate in an adolescent heterozygous for the MTHFR C677T polymorphism. In: Medical and pediatric oncology. Volume 40, number 1, January 2003, pp. 48-50, doi: 10.1002 / mpo.10192 , PMID 12426687 .
• JG Heckmann, CJ Lang, B. Neundörfer: Diagnostics of leukoencephalopathy. In: German Medical Weekly . Volume 127, Number 16, April 2002, pp. 855-858, doi: 10.1055 / s-2002-25180 , PMID 11961703 (review).

Individual evidence

1. ↑ Willibald Pschyrembel : Clinical Dictionary , 266th, updated edition, de Gruyter, Berlin 2014, ISBN 978-3-11-033997-0, keyword leukoencephalopathy
2. ↑ G. Lyon, A. Fattal-Valevski, EH Kolodny: Leukodystrophies: clinical and genetic aspects. In: Topics in magnetic resonance imaging: TMRI. Volume 17, Number 4, August 2006, pp. 219-242, doi: 10.1097 / RMR.0b013e31804c99d4 , PMID 17414998 (review).
3. ↑ P. Reimer, PM Parizel, F.-A. Stichnoth (Editor): Clinical MR Imaging. A practical approach. Springer, 2nd edition 2006, ISBN 3-540-31530-6
4. ↑ W. Schuster, D. Färber (editor): Children's radiology. Imaging diagnostics. Springer 1996, ISBN 3-540-60224-0, Vol 1, p. 494
5. ↑ Ch. M. Filley, BK Kleinschmidt-DeMasters: Toxic Leukoencephalopathy. In: New England Journal of Medicine. 345, 2001, p. 425, doi: 10.1056 / NEJM200108093450606 .
6. ↑ Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome. In: Orphanet (Rare Disease Database).
7. ↑ Hypomyelinated leukodystrophy, autosomal recessive, C11ORF73-associated. In: Orphanet (Rare Disease Database).
8. ↑ leukoencephalopathy, familial vascular, COL4A1-associated. In: Orphanet (Rare Disease Database).
9. ↑ Cystic leukoencephalopathy without megalencephaly. In: Orphanet (Rare Disease Database).
10. ↑ Leukoencephalopathy with bilateral anterior temporal lobe cysts. In: Orphanet (Rare Disease Database).
11. ↑ Leukoencephalopathy with brain stem and spinal cord involvement - increased lactate. In: Orphanet (Rare Disease Database).
12. ↑ Leukoencephalopathy with mild cerebellar ataxia and white matter edema. In: Orphanet (Rare Disease Database).
13. ↑ Leukoencephalopathy - dystonia - motor neuropathy. In: Orphanet (Rare Disease Database).
14. ↑ Leukoencephalopathy - metaphyseal chondrodysplasia. In: Orphanet (Rare Disease Database).
15. ↑ Leukoencephalopathy - Palmoplantar Keratosis. In: Orphanet (Rare Disease Database).
16. ↑ Leukoencephalopathy-Thalamus and Brainstem Anomalies-High Lactate Syndrome. In: Orphanet (Rare Disease Database).
17. ↑ Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy. In: Orphanet (Rare Disease Database).
18. ↑ Odontoleukodystrophy. In: Orphanet (Rare Disease Database).
19. ↑ PYCR2-dependent microcephaly-progressive leukoencephalopathy. In: Orphanet (Rare Disease Database).
20. ↑ Pontine autosomal dominant microangiopathy with leukoencephalopathy. In: Orphanet (Rare Disease Database).
21. ↑ Leukoencephalopathy, cavitating progressive. In: Orphanet (Rare Disease Database).
22. ↑ leukoencephalopathy, multifocal progressive. In: Orphanet (Rare Disease Database).
23. ↑ Retinal vasculopathy and cerebral leukoencephalopathy. In: Orphanet (Rare Disease Database).
24. ↑ Hypomyelinated leukodystrophy, VPS11-dependent, autosomal recessive. In: Orphanet (Rare Disease Database).

Web links

• ScienceDirect

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