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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"
members of a body of troops trained to serve on land or at sea

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(疾患の徴候となる一群の)症徴候,症候群 / (事件・社会的状態などのパターンを示す)徴候形態

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/04/23 22:02:29」(JST)

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Marinesco–Sjögren syndrome (MSS) is a rare autosomal recessive disorder.

Presentation

The syndrome causes cerebellar ataxia (balance and coordination problems), mental retardation, congenital cataracts in early childhood, muscle weakness, inability to chew food, thin brittle fingernails, and sparse hair.^[1]^:578.

Small stature, mild to severe mental retardation and dysarthria (slow, imprecise speech) are usually present.

Various skeletal abnormalities (e.g., curvature of the spine) and hypergonadotropic hypogonadism often occur.

Muscle weakness is progressive, but life expectancy is near normal.

Diagnosis

Diagnosis of MSS is based on clinical symptoms, magnetic resonance imaging (MRI) of the brain (cerebellar atrophy particularly involving the cerebellar vermis), and muscle biopsy.

It can be associated with mutations of the SIL1 gene,^[2]^[3] and a mutation can be found in about 50% of cases.

Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.

Treatment

Treatment for MSS is symptomatic and supportive including physical and occupational therapy, speech therapy, and special education. Cataracts must be removed when vision is impaired, generally in the first decade of life. Hormone replacement therapy is needed if hypogonadism is present.

Eponym

It is named for Gheorghe Marinescu and Torsten Sjögren.^[4]

References

^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
^ Senderek J, et al. (2005). "Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy". Nat Genet 37 (12): 1312–4. doi:10.1038/ng1678. PMID 16282977.
^ Anttonen A, et al. (2005). "The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone". Nat Genet 37 (12): 1309–11. doi:10.1038/ng1677. PMID 16282978.
^ synd/1676 at Who Named It?

External links

mss at NIH/UW GeneTests
Marinesco-Sjögren Syndrome Support Group
GeneReview/NIH/UW entry on Marinesco-Sjögren Syndrome

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UpToDate Contents

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1. 小児における後天性末梢性ニューロパチーの概要 overview of acquired peripheral neuropathies in children
2. シェーグレン症候群における口内乾燥およびその他の非眼結膜炎症状の治療 treatment of dry mouth and other non ocular sicca symptoms in sjogrens syndrome
3. シェーグレン症候群による全身および腺外症状の治療 treatment of systemic and extraglandular manifestations of sjogrens syndrome
4. シェーグレン症候群におけるドライアイの治療 treatment of dry eyes in sjogrens syndrome
5. シェーグレン症候群の分類および診断 classification and diagnosis of sjogrens syndrome

English Journal

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children.

Terracciano A, Renaldo F, Zanni G, D'Amico A, Pastore A, Barresi S, Valente EM, Piemonte F, Tozzi G, Carrozzo R, Valeriani M, Boldrini R, Mercuri E, Santorelli FM, Bertini E.SourceUnit of Neuromuscular and Neurodegenerative Disorders, Lab of Molecular Medicine and Unit of Neurology, Dept of Neuroscience, Bambino Gesù Childrens Hospital, Rome, Italy.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.Eur J Paediatr Neurol.2012 May;16(3):248-56. Epub 2011 Aug 27.
Childhood cerebellar ataxias, and particularly congenital ataxias, are heterogeneous disorders and several remain undefined. We performed a muscle biopsy in patients with congenital ataxia and children with later onset undefined ataxia having neuroimaging evidence of cerebellar atrophy. Significant
PMID 21873089

Cardiomyopathy in Friedreich ataxia: exemplifying the challenges faced by cardiologists in the management of rare diseases.

Jensen MK, Bundgaard H.
Circulation.Circulation.2012 Apr 3;125(13):1591-3. Epub 2012 Feb 29.
PMID 22379113

Japanese Journal

Novel mutations in the SIL1 gene in a Japanese pedigree with the Marinesco-Sjogren syndrome

Takahata Taichi,Yamada Koki,Yamada Yoshihisa [他]
Journal of human genetics 55(3), 142-146, 2010-03
NAID 40017021919

Marinesco-Sjogren syndrome with atrophy of the brain stem tegmentum and dysplastic cytoarchitecture in the cerebral cortex

SAKAI Kenji,TADA Mari,YONEMOCHI Yosuke,NAKAJIMA Takashi,ONODERA Osamu,TAKAHASHI Hitoshi,KAKITA Akiyoshi
Neuropathology : official journal the Japanese Society of Neuropathology 28(5), 541-546, 2008-10-01
NAID 10028191402

Related Pictures

★リンクテーブル★

リンク元	「マリネスコ・シェーグレン症候群」「spinocerebellar disease」「inherited spinocerebellar degeneration」「白内障精神遅滞症候群」「Marinesco-Sjogren症候群」
関連記事	「syndrome」「Sjogren syndrome」