[P2-168] Visual diagnosis: Fetal hydrocephalus and brainstem kinking leading to diagnosis of alpha-dystroglycanopathy related congenital muscular dystrophy
Alpha-dystroglycanopathies (ADG) present with a wide range of phenotypes, ranging from the more severe Walker-Warburg syndrome (WWS), muscle-eye-brain disease to milder limb-girdle muscular dystrophy. We report a 6-month-old male infant with a WWS phenotype. He was the first child of non-consanguineous parents. Prenatal history revealed reduced intrauterine movements, and hydrocephalus on fetal ultrasonography at gestational 28 weeks. He was born at 37th gestational week by cesarean section with a birth weight of 2400 gr. Apgar score was 4/5, at 1 and 5 minutes. He had generalized hypotonia, respiratory and feeding problems, ocular abnormalities (bilateral microphtalmia, cataracts), and hydrocephalus at birth. A ventriculo-peritoneal shunt was placed in the first week of life. At the age of 6 months, when referred to our department, magnetic resonance imaging was recognized to have a pattern including cobblestone lissencephaly, hydrocephalus, brainstem hypoplasia and kinking, cerebellar microcysts. Serum creatine kinase (CK) level was 6384 IU/L (N ≤ 195). Muscle biopsy showed dystrophic changes with negative alpha-dystroglycan immunolabelling. The patient died due to respiratory insufficiency at the age of 9 months. Molecular analysis was negative for known alpha-dystroglycanopathy genes. Further molecular analysis is pending. Combination of fetal ventriculomegaly and brainstem kinking is a rare fetal neuroimaging pattern described in ADG, tubulinopathies, and X-linked hydrocephalus due to L1CAM mutations. Ordering simply a serum CK level after recognition of this ‘fingerprint’ on neuroimaging may lead to timely diagnosis of a congenital muscular dystrophy with central nervous system involvement, and prevents unnecessary shunt procedures.