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a pattern of symptoms indicative of some disease
a complex of concurrent things; "every word has a syndrome of meanings"

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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）』「2016/01/13 22:34:39」(JST)

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Morquio syndrome (referred to as mucopolysaccharidosis IV, MPS IV, Morquio-Brailsford syndrome, or Morquio)^[1] is an autosomal recessive mucopolysaccharide storage disease (see also lysosomal storage disorder), usually inherited.^[2]^:544 It is a rare type of birth defect with serious consequences. In the US, the incidence rate for Morquio is estimated at between 1 in 200,000 and 1 in 300,000 live births.^[1]

When the body cannot process certain types of mucopolysaccharides, they build up or are eliminated, causing various symptoms. These involve accumulation of keratan sulfate.^[3]

History

The condition was first described, simultaneously and independently, in 1929, by Luis Morquio (1867–1935),^[4] a prominent Uruguayan physician who discovered it in Montevideo, and James Frederick Brailsford (1888–1961), an English radiographer in Birmingham, England.^[5]^[6] They both recognized the occurrence of corneal clouding, aortic valve disease, and urinary excretion of keratan sulfate. Morquio observed the disorder in four siblings in a family of Swedish extraction and reported his observations in French.

Signs

The following signs are associated with Morquio's syndrome:

Abnormal heart development
Abnormal skeletal development
Hypermobile joints
Large fingers
Knock-knees
Widely spaced teeth
Bell-shaped chest (flared ribs)
Compression of spinal cord
Enlarged heart
Dwarfism
Heart murmur
below average height for certain age

Symptoms

Patients with Morquio syndrome appear healthy at birth.^[1] They often present with spinal deformity, and there is growth retardation and possibly genu valgum in the second or third year of life. A patient with Morquio's syndrome is likely to die at an early age. Symptoms of the disease may include:

Short stature and short neck (caused by flat vertebrae)
Moderate kyphosis or scoliosis
Mild pectus carinatum ("pigeon chest")
Cervical spine: odontoid hypoplasia, atlanto-axial instability; may be associated with myelopathy with gradual loss of walking ability
Joint laxity, mild dysostosis multiplex, dysplastic hips, large unstable knees, large elbows and wrists, and flat feet
The combined abnormalities usually result in a duck-waddling gait
Mid-face hypoplasia and mandibular protrusion
Thin tooth enamel
Corneal clouding
Mild hepatosplenomegaly

Regarding the life span of people with Morquio, some can die as early as 2 or 3 years old, and some can live up to 60 or 70 years old.

Treatment

The treatment for Morquio syndrome consists of prenatal identification and of enzyme replacement therapy. On 12 February 2014, the US Food and Drug Administration approved the drug elosulfase alfa (Vimizim) treating the disease.^[7]

References

^ ^a ^b ^c "MPS IV (Morquio syndrome)". MPSSociety.org. National MPS Society. Retrieved 14 January 2015.
^ James, William D.; Berger, Timothy G. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0.
^ Prat C, Lemaire O, Bret J, Zabraniecki L, Fournié B (May 2008). "Morquio syndrome: Diagnosis in an adult". Joint Bone Spine 75 (4): 495–8. doi:10.1016/j.jbspin.2007.07.021. PMID 18456538.
^ Morquio, L. (1929). "Sur une forme de dystrophie osseuse familiale". Archives de médecine des infants (Paris) 32: 129–135. ISSN 0365-4311.
^ synd/2108 at Who Named It?
^ Brailsford, J. F. (1929). "Chondro-osteo-dystrophy: Roentgenographic & clinical features of a child with dislocation of vertebrae". American Journal of Surgery (New York) 7 (3): 404–410. doi:10.1016/S0002-9610(29)90496-7.
^ "FDA approves Vimizim to treat rare congenital enzyme disorder" (Press release). US Food and Drug Administration. 14 February 2014. Retrieved 14 January 2015.

External links

International Dwarf Advocacy Association
National MPS Society
International Morquio Organization
Hide & Seek Foundation for Lysosomal Disease Research
The BioMarin Morquio A (MPS IVA) Program

UpToDate Contents

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1. ムコ多糖症：臨床的特徴および診断 mucopolysaccharidoses clinical features and diagnosis
2. ムコ多糖症：治療 mucopolysaccharidoses treatment
3. ムコ多糖症：合併症 mucopolysaccharidoses complications
4. 小児や青年の頸椎損傷の評価と急性期のマネージメント evaluation and acute management of cervical spine injuries in children and adolescents
5. 漏斗胸 pectus carinatum

English Journal

Identification of a novel missense mutation in Brazilian patient with a severe form of mucopolysaccharidosis type IVA.

Kubaski F, Brusius-Facchin AC, Palhares HM, Balarin MA, Viapiana-Camelier M, Guidobono R, Burin MG, Giugliani R, Leistner-Segal S.SourcePost Graduation Program in Medicine: Medical Sciences, Federal University of Rio Grande do Sul, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clinicas de Porto Alegre, RS, Brazil.
Gene.Gene.2013 Jan 11. pii: S0378-1119(12)01659-9. doi: 10.1016/j.gene.2012.12.100. [Epub ahead of print]
Mucopolysaccharidosis type IVA (MPS IVA) or Morquio syndrome type A is an autosomal recessive disease caused by deficiency of the lysosomal enzyme N-acetylgalactosamine-6-sulfatase (GALNS). We report molecular characterization of a patient who presents the new missense mutation p.C165Y in homozygosi
PMID 23313879

Gait pattern and lower extremity alignment in children with Morquio syndrome.

Dhawale AA, Church C, Henley J, Holmes L Jr, Thacker MM, Mackenzie WG, Miller F.SourceDepartment of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware 19899, USA.
Journal of pediatric orthopedics. Part B.J Pediatr Orthop B.2013 Jan;22(1):59-62. doi: 10.1097/BPB.0b013e32835a0e6d.
The gait in children with Morquio syndrome (MPS IV) has not been previously described. We reviewed the charts, gait analysis reports, and radiographs of nine children with no previous lower extremity surgery. Children with MPS IV had a slower walking speed, reduced cadence, and reduced stride length
PMID 23010763

Airway management during anaesthesia in a patient with Morquio-Brailsford syndrome: a case report.

Nielsen RM, Pedersen NA, Olsen KS.SourceFrom the Department of Anaesthesiology, Glostrup Hospital, University of Copenhagen, Glostrup, Denmark.
European journal of anaesthesiology.Eur J Anaesthesiol.2012 Dec 12. [Epub ahead of print]
PMID 23241918

Japanese Journal

症例報告モルキオ症候群に合併した強直性脊椎骨増殖症の1例

臨床整形外科 47(10), 1029-1032, 2012-10
NAID 40019456930

Anesthetic management for foramen magnum decompression in a patient with Morquio syndrome : a case report

Journal of anesthesia 24(4), 594-597, 2010-08-20
NAID 10026632745

若年者のＯ脚・Ｘ脚に対する膝周囲骨切り術の３８年に至る超長期追跡成績と膝関節症の発生

日本関節病学会誌 28(4), 489-502, 2009
NAID 130004955652

Related Pictures

★リンクテーブル★

リンク元	「モルキオ症候群」
関連記事	「syndrome」

「モルキオ症候群」

Morquio syndrome
Classification and external resources
Specialty	endocrinology
ICD-10	E76.2
ICD-9-CM	277.5
OMIM	253000 253010
DiseasesDB	30807 30806
MedlinePlus	001206
eMedicine	ped/1477
Patient UK	Morquio syndrome
MeSH	D009085
	[edit on Wikidata]