In this manuscript, we intended to present this case presenting features (enophthalmia, interhemispheric cyst and cerebral hematoma) not reported previously in the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:There were severe brain malformations, hydrocephaly, myopathy and congenital cataract in a 5-month old girl presented with seizure.
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Temel Bulgular & Veri:The findings in this case fulfilling diagnostic criteria of Walker Warburg syndrome other than type 2 lissencephaly suggest an intermediate form between Walker Warburg syndrome and muscle-eye-brain disease.
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Sonuç & Katkı:In this manuscript, we intended to present this case presenting features (enophthalmia, interhemispheric cyst and cerebral hematoma) not reported previously in the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Abstract
There were severe brain malformations, hydrocephaly, myopathy and congenital cataract in a 5-month old girl presented with seizure. Walker Warburg syndrome is the most severe form of congenital muscular dystrophy accompanied by brain and eye anomalies. The findings in this case fulfilling diagnostic criteria of Walker Warburg syndrome other than type 2 lissencephaly suggest an intermediate form between Walker Warburg syndrome and muscle-eye-brain disease. In this manuscript, we intended to present this case presenting features (enophthalmia, interhemispheric cyst and cerebral hematoma) not reported previously in the spectrum of congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies.
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Bu Makaleye Atıf Yap
KABA, S., DOĞAN, M., BULUT, M. D., BULAN, K., DEMİR, N., ÜSTYOL, L., BOZDOĞAN, Z. Ü., CEYLAN, N. (2017). Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma. Eastern Journal of Medicine, Cilt: 22 - Sayı: 1, 26–29. https://ajindex.com/articles/202178
Dobyns WB, Pagon RA, Armstrong D, et al. Diagnostic criteria for Walker-Warburg syndrome. Am J Med Genet 1989; 32: 195-210
Godfrey C, Clement E, Mein R, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain 2007; 130: 2725-2735
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Greenberg CR, Jacobs HK, Nylen TE, et al. Congenital hydrocephalus secondary to WalkerWarburg syndrome identified on the Manitoba Neonatal Screening Programme for Duchenne muscular dystrophy. J Med Genet 1992; 29: 583-585
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Beltrán-Valero de Bernabé D, Currier S, Steinbrecher A, et al. Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet 2002; 71: 1033-1043
Mercuri E, Messina S, Bruno C, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology 2009; 72: 1802-1809.