From Wikipedia, the free encyclopedia
Diffuse myelinoclastic sclerosis, sometimes
referred to as "Schilder's disease", is a very
infrequent neurodegenerative disease that presents clinically as pseudotumoural demyelinating lesions, that make its
diagnosis difficult. It usually begins in childhood, affecting
children between 5 and 14 years old[1][2], but
cases in adults are perfectly possible[3].
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[4].
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.[5]
Diagnostic
The Poser criteria for diagnosis are:[6]
- 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 monophasic, not remitting; [7] [8],
remitting;[9] [10] [11] and
finally, progressive, with increase in deficits.[12]
Treatments
Management Corticosteroids may be effective in some
patients. Additional treatment options are beta-interferon or
immunosuppressive therapy. Otherwise management is supportive and
includes physiotherapy, occupational therapy and
nutritional support in the later stages as patients loose their
ability to eat.
History
It was first described by Paul Ferdinand Schilder in
1912,[13][14] and
for nearly one hundred years the term was used to describe also the
other white matter
pathologies described by him[15]. In
1986 Poser restricted the use of Schilder's disease to the one
described here, but this name has remained still ambiguous.
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. doi:10.1177/088307389400900412. PMID 7822732.
- ^
Bacigaluppi S, Polonara G, Zavanone ML, Campanella R, Branca V,
Gaini SM, Tredici G, Costa A. Schilder's disease: non-invasive
diagnosis? : A case report and review. PMID 19609739
- ^
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. doi:10.1177/088307389400900412. 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. doi:10.1177/088307389801300501. 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. doi:10.1136/jnnp.66.3.407. PMID 10084548.
- ^
Brunot E, Marcus JC (1999).
"Multiple sclerosis presenting as a single mass lesion".
Pediatr. Neurol. 20 (5): 383–6. doi:10.1016/S0887-8994(98)00164-7. 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. doi:10.1159/000028695.
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. doi:10.1159/000112172.
PMID 1817032.
See also
|
Pathology of the nervous system, primarily CNS (G04–G47,
323–349) |
|
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Inflammation |
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Brain/
encephalopathy |
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autoimmune
( Multiple
sclerosis, Neuromyelitis optica, Schilder's disease) · hereditary
( Adrenoleukodystrophy, Alexander,
Canavan, Krabbe, ML, PMD, VWM, MFC,
CAMFAK
syndrome) · Central pontine
myelinolysis · Marchiafava-Bignami
disease · Alpers'
|
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Other
|
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Spinal cord/
myelopathy |
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|
Both/either |
|
|
| central nervous system navs:
anat/physio/dev, noncongen/congen/neoplasia,
symptoms+signs/eponymous, proc |
|
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