Walker-Warburg Syndrome: A Case report of Congenital Muscular Dystrophy with Cerebro-Ocular Malformation, a Rare Syndrome in an African Patient

Abstract

Walker-Warburg Syndrome is a genetically heterogeneous disease with autosomal recessive inheritance presenting with congenital muscular dystrophy with cerebro-ocular malformations since birth or infancy. Literature shows a mutation in Protein O-Mannosyltransferase 1 (POMT1) gene, which results in a defect in O-mannosylation of α-dystroglycan, these proteins are central to the pathogenesis of structural and functional brain abnormalities however, the exact pathophysiology of this disorder is not fully understood. The overall incidence still remains unknown and most cases have been reported from the Western hemisphere. In our setting we report a case of 3 weeks old male baby who was delivered by spontaneous vertex delivery at gestation age of 26 weeks with birth weight of 1900 gm referred to our hospital on the 6th day of life, with complaint of bilateral prominent, protruding eyes and inability to close the eyelids. The parents were non-consanguineous and this was the first child. No ante- natal ultrasound was done during the pregnancy. On further examination, he had macrocephaly 33 cm (>97th centile) with no fusion of the sutures, depressed nasal bridge, low set ears, bilateral dental lamina cyst, bilateral cortical thumb, micrognathia, and scoliosis. Systemic examination revealed a normal conscious level with weak cry, normal facial symmetry, generalized hypotonia and primitive reflex were weak to absent and ocular examination revealed bupthalmos, bilateral megalocornea and glaucoma. Creatine kinase was elevated-522 unit/L (0-25 units/L). Cranial Ultrasound revealed Dandy-Walker cyst in the posterior fossa cyst, with third ventricle dilatation (ventriculomegally), the corpus callosum was normal, Interventricular hemorrhage grade 2 and hyper echogenic eyeballs. Echocardiography revealed Double Outlet Right Ventricle. Management was supportive, aimed to improve growth through optimum feeding, eye padding for protection and diuretics for the underlying congenital heart disease.Conclusion: Overall prognosis of this disease is poor, the baby died in 42 days due to aspiration pneumonia and progressive respiratory failure. Genetic counselling was done to the parents, since in families with one affected child, the risk of having another child with the disease is 25%. A high index of suspicion during a routine antenatal ultrasound could prompt further advanced fetal ultrasonography and magnetic resonance imaging, and aid in timely prenatal diagnosis, management, and counseling.