Megalencephalic leukoencephalopathy with subcortical cysts

Other names: Vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts- a) Bilateral confluent symmetrical diffuse white matter involvement arrow (b) and cerebellar white matter involvement arrow c,d) subcortical cysts in temporal, frontal,parietal areas arrow

Megalencephalic leukoencephalopathy with subcortical cysts (MLC, or Van der Knaap disease) is a form of hereditary CNS demyelinating disease. It belongs to a group of disorders called leukodystrophies.

## Contents

* 1 Signs and symptoms
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 History
* 6 References
* 7 External links

## Signs and symptoms[edit | edit source]

The clinical presentation of this condition is consistent with the following:[1]

* Macrocephaly
* Motor developmental delay
* Seizures
* Ataxia
* Spasticity

## Genetics[edit | edit source]

It is associated with MLC1.[2][3]

## Diagnosis[edit | edit source]

The diagnosis of this condition, Megalencephalic leukoencephalopathy with subcortical cysts is based on the following:[1]

* Clinical features
* MRI
* Genetic test

## Treatment[edit | edit source]

In terms of the management of this condition the following is indicated:[1]

* Physical therapy
* Speech therapy
* Special education
* Antiepileptic drug

## History[edit | edit source]

A series of cases with megalencephalic leukodystrophy were described by the Indian neurologist Bhim Sen Singhal (1933-)in 1991.[4][5][6] However, it is sometimes referred to as Van der Knaap disease after the Dutch neurologist Marjo van der Knaap who described another series of cases with clinical and radiological features in 1995.[7][8][9]

## References[edit | edit source]

1. ↑ 1.0 1.1 1.2 van der Knaap, Marjo S.; Abbink, Truus EM; Min, Rogier (1993). "Megalencephalic Leukoencephalopathy with Subcortical Cysts". GeneReviews®. University of Washington, Seattle. Archived from the original on 19 January 2022. Retrieved 4 February 2022.
2. ↑ Ilja Boor PK, de Groot K, Mejaski-Bosnjak V, et al. (June 2006). "Megalencephalic leukoencephalopathy with subcortical cysts: an update and extended mutation analysis of MLC1". Hum. Mutat. 27 (6): 505–12. doi:10.1002/humu.20332. PMID 16652334. S2CID 3174994.
3. ↑ "Megalencephalic leukoencephalopathy with subcortical cysts - Genetics Home Reference". Archived from the original on 2009-03-05. Retrieved 2009-03-11.
4. ↑ Singhal, BS; Gursahani, RD; Udani, VP; Biniwale, AA (May 1996). "Megalencephalic leukodystrophy in an Asian Indian ethnic group". Pediatric Neurology. 14 (4): 291–6. doi:10.1016/0887-8994(96)00048-3. PMID 8805171.
5. ↑ Batla, A; Pandey, S; Nehru, R (January 2011). "Megalencephalic leukoencephalopathy with subcortical cysts: A report of four cases". Journal of Pediatric Neurosciences. 6 (1): 74–7. doi:10.4103/1817-1745.84416 (inactive 31 October 2021). PMC 3173924. PMID 21977097.`{{cite journal}}`: CS1 maint: DOI inactive as of October 2021 (link)
6. ↑ Singhal BS, Gursahani RD, Biniwale AA, Udani VP. Tokyo, Japan: In Proceedings of the 8th Asian and Oceanian Congress of Neurology; 1991. Megalencephalic leukodystrophy in India; p. 72.
7. ↑ van der Knaap, Marjo S.; Wevers, Ron A.; Kure, Shigeo; Gabreëls, Fons J. M.; Verhoeven, Nanda M.; van Raaij-Selten, Bertie; Jaeken, Jaak (2 July 2016). "Increased Cerebrospinal Fluid Glycine: A Biochemical Marker for a Leukoencephalopathy With Vanishing White Matter". Journal of Child Neurology. 14 (11): 728–731. doi:10.1177/088307389901401108. PMID 10593550. S2CID 25535446.
8. ↑ van der Knaap, MS; Barth, PG; Stroink, H; van Nieuwenhuizen, O; Arts, WF; Hoogenraad, F; Valk, J (March 1995). "Leukoencephalopathy with swelling and a discrepantly mild clinical course in eight children". Annals of Neurology. 37 (3): 324–34. doi:10.1002/ana.410370308. PMID 7695231. S2CID 29580717.
9. ↑ van der Knaap, Marjo S; Boor, Ilja; Estévez, Raúl (November 2012). "Megalencephalic leukoencephalopathy with subcortical cysts: chronic white matter oedema due to a defect in brain ion and water homoeostasis". The Lancet Neurology. 11 (11): 973–985. doi:10.1016/S1474-4422(12)70192-8. PMID 23079554. S2CID 31690619.

## External links[edit | edit source]

Classification|

* ICD-10: E75.2
* OMIM: 604004
* DiseasesDB: 33813

|

External resources|

* GeneReviews: Megalencephalic Leukoencephalopathy with Subcortical Cysts
* Orphanet: 2478

* GeneReview/NIH/UW entry on Megalencephalic Leukoencephalopathy with Subcortical Cysts Archived 2022-01-19 at the Wayback Machine

* v
* t
* e

Diseases of the nervous system, primarily CNS

Inflammation|

| Brain|

* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic

|

Brain and spinal cord|

* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis

Brain/
encephalopathy|

| Degenerative|

| Extrapyramidal and
movement disorders|

* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA

* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia

* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person

|

Dementia|

* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy

* Vascular dementia

Mitochondrial disease|

* Leigh syndrome

Demyelinating|

* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS

Episodic/
paroxysmal|

| Seizures and epilepsy|

* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy

|

Headache|

* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache

Cerebrovascular|

* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases

Other|

* Sleep disorders
* For more detailed coverage, see Template:Sleep

CSF|

* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension

Other|

* Brain herniation
* Reye syndrome
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy

Both/either|

| Degenerative|

| SA|

* Friedreich's ataxia
* Ataxia–telangiectasia

|

MND|

* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia

* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy

* both:
* Amyotrophic lateral sclerosis

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