Schilder's disease
Classification & external resources
| ICD-9
| 341.1
|
| OMIM
| 272100
|
| DiseasesDB
| 11849
|
| eMedicine
| neuro/92
|
| MeSH
| D002549
|
- This article deals with the MS variant known as diffuse myelinoclastic sclerosis. For the leukodystrophy described by Paul Schilder and Thomas Addison, sometimes known as Schilder's disease, see Adrenoleukodystrophy
Schilder's disease or diffuse myelinoclastic sclerosis is a a very infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its diagnosis difficult. It presents adrenal atrophy and diffuse cerebral demyelination. It usually begins in childhood, affecting children between 5 and 14 years old.[1][2]
This disease is considered one of the borderline forms of multiple sclerosis because some authors consider them different diseases and others MS variants. Other diseases in this group are neuromyelitis optica (NMO), Balo concentric sclerosis and Marburg multiple sclerosis[3].
Additional recommended knowledge
Symptoms
Symptoms are similar to those in multiple sclerosis and may include dementia, aphasia, seizures, personality changes, poor attention, tremors, balance instability, incontinence, muscle weakness, headache, vomiting, and vision and speech impairment.[4]
Diagnostic
The Poser criteria for diagnosis are:[5]
- One or two roughly symmetrical large plaques. Plaques are greater than 2 cm diameter.
- No other lesions are present and there are no abnormalities of the peripheral nervous system.
- Results of adrenal function studies and serum very long chain fatty acids are normal.
- Pathological analysis is consistent with subacute or chronic myelinoclastic diffuse sclerosis.
Prognosis and clinical course
The prognosis of this disease is very variable and can take three different courses: a monofasic, not remitting;
[6]
[7],
remitting;[8]
[9]
[10]
and finally, progressive, with increase in deficits.[11]
Treatments
Management Corticosteroids may be effective in some patients. Otherwise management in supportive and includes physiotherapy, occupational therapy and nutritional support in the later stages
History
It was first described by Paul Ferdinand Schilder in 1912,[12][13] and for a hundred years the term was used to describe also the other white matter pathologies described by him[14]. In 1986 Poser restricted its use to the disease described here.
References
- ^ Garrido C, Levy-Gomes A, Teixeira J, Temudo T (2004). "[Schilder's disease: two new cases and a review of the literature]" (in Spanish). Revista de neurologia 39 (8): 734-8. PMID 15514902.
- ^ Afifi AK, Bell WE, Menezes AH, Moore SA (1994). "Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature". J. Child Neurol. 9 (4): 398-403. PMID 7822732.
- ^ Fontaine B (2001). "[Borderline forms of multiple sclerosis]" (in French). Rev. Neurol. (Paris) 157 (8-9 Pt 2): 929-34. PMID 11787357.
- ^ NINDS Schilder's Disease Information Page [1]
- ^ Poser CM, Goutières F, Carpentier MA, Aicardi J (1986). "Schilder's myelinoclastic diffuse sclerosis". Pediatrics 77 (1): 107-12. PMID 3940347.
- ^ Afifi AK, Bell WE, Menezes AH, Moore SA (1994). "Myelinoclastic diffuse sclerosis (Schilder's disease): report of a case and review of the literature". J. Child Neurol. 9 (4): 398-403. PMID 7822732.
- ^ Pretorius ML, Loock DB, Ravenscroft A, Schoeman JF (1998). "Demyelinating disease of Schilder type in three young South African children: dramatic response to corticosteroids". J. Child Neurol. 13 (5): 197-201. PMID 9620009.
- ^ de Lacour A, Guisado F, Zambrano A, Argente J, Acosta J, Ramos C (1998). "[Pseudotumor forms of demyelinating diseases. Report of three cases and review of the literature]" (in Spanish; Castilian). Revista de neurologia 27 (160): 966-70. PMID 9951014.
- ^ Leuzzi V, Lyon G, Cilio MR, Pedespan JM, Fontan D, Chateil JF, Vital A (1999). "Childhood demyelinating diseases with a prolonged remitting course and their relation to Schilder's disease: report of two cases". J. Neurol. Neurosurg. Psychiatr. 66 (3): 407-8. PMID 10084548.
- ^ Brunot E, Marcus JC (1999). "Multiple sclerosis presenting as a single mass lesion". Pediatr. Neurol. 20 (5): 383-6. PMID 10371386.
- ^ Garell PC, Menezes AH, Baumbach G, Moore SA, Nelson G, Mathews K, Afifi AK (1998). "Presentation, management and follow-up of Schilder's disease". Pediatric neurosurgery 29 (2): 86-91. PMID 9792962.
- ^ synd/1554 at Who Named It
- ^ P. F. Schilder, Zur Kenntnis der sogenannten diffusen Sklerose (über Encephalitis periaxialis diffusa). Zeitschrift für die gesamte Neurologie und Psychiatrie, 1912, 10 Orig.: 1-60.
- ^ Martin JJ, Guazzi GC (1991). "Schilder's diffuse sclerosis". Dev. Neurosci. 13 (4-5): 267-73. PMID 1817032.
See also
- WebMD - Schilder's Disease
- schilders at NINDS
| Nervous system pathology, primarily CNS (G00-G47, 320-349) |
|---|
Inflammatory diseases
of the CNS | Meningitis (Arachnoiditis) - Encephalitis - Myelitis - Encephalomyelitis (Acute disseminated) - Tropical spastic paraparesis |
|---|
Systemic atrophies
primarily affecting the CNS | Huntington's disease - Spinocerebellar ataxia (Friedreich's ataxia, Ataxia telangiectasia, Hereditary spastic paraplegia)
Spinal muscular atrophy: Werdnig-Hoffman disease - Kugelberg-Welander disease - Fazio Londe syndrome -
MND (Amyotrophic lateral sclerosis (ALS), Progressive muscular atrophy (PMA), Progressive bulbar, Pseudobulbar, PLS) |
|---|
Extrapyramidal and
movement disorders | Parkinson's disease - Neuroleptic malignant syndrome - Postencephalitic parkinsonism - Pantothenate kinase-associated neurodegeneration - Progressive supranuclear palsy - Striatonigral degeneration - Dystonia (Spasmodic torticollis, Meige's syndrome, Blepharospasm) - Essential tremor - Myoclonus - Chorea (Choreoathetosis) - Restless legs syndrome - Stiff person syndrome |
|---|
Other degenerative /
demyelinating diseases | Alzheimer's disease - Pick's disease - Alpers' disease - Dementia with Lewy bodies - Leigh's disease - Multiple sclerosis - Devic's disease - Central pontine myelinolysis - Transverse myelitis |
|---|
| Seizure/epilepsy | Focal (Simple partial, Complex partial) - Generalised (Tonic-clonic, Absence, Atonic, Benign familial neonatal) - Lennox-Gastaut - West - Epilepsia partialis continua - Status epilepticus (Complex partial status epilepticus) |
|---|
| Headache | Migraine (Familial hemiplegic) - Cluster - Vascular - Tension |
|---|
| Vascular | Transient ischemic attack (Amaurosis fugax, Transient global amnesia) - Cerebrovascular disease (MCA, ACA, PCA, Foville's syndrome, Millard-Gubler syndrome, Lateral medullary syndrome, Weber's syndrome, Lacunar stroke) |
|---|
| Sleep disorders | Insomnia - Hypersomnia - Sleep apnea (Ondine's curse) - Narcolepsy - Cataplexy - Kleine-Levin syndrome - Circadian rhythm sleep disorder - Delayed sleep phase syndrome - Advanced sleep phase syndrome |
|---|
| Other | Hydrocephalus (Normal pressure) - Idiopathic intracranial hypertension - Encephalopathy - Brain herniation - Cerebral edema - Reye's syndrome - Syringomyelia - Syringobulbia - Spinal cord compression |
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