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Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma [Eastern J Med]
Eastern J Med. 2017; 22(1): 26-29 | DOI: 10.5505/ejm.2017.18480  

Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma

Sultan Kaba1, Murat Doğan1, Mehmet Deniz Bulut2, Keziban Bulan1, Nihat Demir1, Lokman Üstyol1, Zeyneb Ümit Bozdoğan1, Nesrin Ceylan1
1Pediatrician, Yuzuncu Yil University, School of Medicine, Department of Pediatrics, Van, Turkey
2Radiologist, Yuzuncu Yil University, School of Medicine, Department of Radiology, Van, Turkey

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.

Keywords: Walker Warburg syndrome, enophthalmia, interhemispheric cyst, cerebral hematoma


Sultan Kaba, Murat Doğan, Mehmet Deniz Bulut, Keziban Bulan, Nihat Demir, Lokman Üstyol, Zeyneb Ümit Bozdoğan, Nesrin Ceylan. Two novel associations in a case with Walker Warburg syndrome; Enophthalmia, interhemispheric cyst and cerebral hematoma. Eastern J Med. 2017; 22(1): 26-29

Corresponding Author: Sultan Kaba, Türkiye


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