발작을 주소로 내원한 Walker-Warburg 증후군 1례
A Case of Walker-Warburg Syndrome Presented with Seizures
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초록
Walker-Warburg 증후군은 선천성 근육 퇴행 위축이 있으면서 뇌이랑없음증과 같은 뇌의 기형, 선천성 작은 안구증 및 망막 기형과 같은 눈의 기형 등을 특징으로 하는 상염색체 열성 질환으로 정신지체 및 간질 등이 동반되는 드문 질환이다. 환자의 약 20%에서 유전자의 돌연변이가 밝혀져 있다. 저자들은 발작을 주소로 내원한 5개월 된 환자에서 뇌 자기공명영상, 근육 생검, 안구 검사, 혈액검사 및 뇌파검사를 통하여 이상 소견을 확인하였기에 문헌고찰과 함께 보고하는 바이다.
Abstract
Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of α-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.
참고문헌 (17)
- Vajsar J, "Walker-Warburg syndrome", Orphanet J Rare Dis, 1, pp.1~5 (2006)
- Warburg M, "Hydrocephaly, congenital retinal nonattachment, and congenital falciform fold", Am J Ophthalmol, 85, pp.88~94 (1978)
- Cohn RD, "Dystroglycan: important player in skeletal muscle and beyond", Neuromuscul Disord, 15, pp.207~217 (2005)
- Michele DE, "Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies", Nature, 418, pp.417~422 (2002)
- Kim AY, "A case of type II lessencephaly;Walker-Warburg syndrome", J Korean Pediatr Soc, 34, pp.1598~1604 (1991)
- Asano Y, "A case of Walker-Warburg syndrome", Brain Dev, 22, pp.454~457 (2000)
- Joseph G, "Congenital structural defects in Pediatric neurology principles & practice. 4th ed", pp.363~490 (2006), Mosby
- Pabuscu Y, "Walker-Warburg syndrome variant", Comput Med Imaging Graph, 26, pp.453~458 (2002)
- Caroline G, "Refining genotype- phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan", Brain, 130, pp.2725~2735 (2007)
- Mercuri E, "Congenital muscular dystrophies with defective glycosylation of dystroglycan", Neurology, 72, pp.1798~1809 (2009)
- Kliegman RM, "Congenital muscular dystrophy in Nelson textbook of pediatrics. 18th ed", pp.2548~2549 (2007), Saunders
- Kenneth F, "Congenital structural defects in Pediatric neurology principles & practice 2nd ed", pp.437~439 (1994), Mosby
- "Disorders of muscle-dystrophies and myopathies", Principle of child neurology, 1675~1676
- Barkovich AJ, "Congenital Malformations of the Brain and Skull in Pediatric neuroimaging. 4th ed.", pp.341~352 (2000), LWW
- Kerr SL, "A case study on Walker-Warburg syndrome", Adv Neonatal Care, 10, pp.21~24 (2010)
- Dobyns WB, "Diagnostic criteria for Walker-Warburg syndrome", Am J Med Genet, 32, pp.195~210 (1989)
- Vajsar J, "Walker- Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate", Neuromuscul Disord, 18, pp.675~657 (2008)