Dandy Walker and Extreme Macrocephaly Caused by Enormous Occipital Encephalocele

Abstract

Introduction. Dandy-Walker syndrome is a congenital brain malformation involving cerebellum with partial and complete vermian agenesis, enlargement of the fourth ventricle and surrounding fluid spaces, cyst formation in posterior cranial fosse pushing tentorium upward [1,2]. Hydrocephalus or an increase in the pressure of the fluid spaces may also be present or other malformation as corpus calosum hypoplasia or agenesia, occipital encephalocele, malformation of the heart, face, limbs fingers and toes [3-5]. The symptoms often occur in early infancy and include slow motor development and progressive enlargement of the skull. The diagnostic is done by ultrasound, CT and MRI [6-11]. The treatment of this syndrome may be complex and sometimes includes various experts such as pediatrician, pediatric neurosurgeon, physiatrist, psychologist, sociologist or others. The treatment consists of treating the associated problems such as hydrocephaly [12-15]. Prognosis of Dandy-Walker syndrome is variable and the morbidity and mortality depends on severity of the syndrome and associated malformations [16]. Aim. The aim of this paper was to demonstrate how severe spontaneous evolution of Dandy-Walker syndrome may be expressed and the problems and dilemmas which may appear related to its treatment. Case report. A six-year-old boy was referred to the neurosurgeon because of the excessive growth of the skull in anteroposterior axis caused by a wide base occipital encephalocele. Although the psychological development was near the low limit of the IQ, the enormous head had not allowed verticalization of the child and further progress of his psychomotor development. The head was so heavy that could not be supported by the child’s neck. Surgical procedure. We performed a cranial skull reduction with primary cranioplasty assisted by a plastic surgeon and Pudentz shunt procedure. Result. The follow-up period lasted two years. The child started to walk, hypotonia and Babinski signs disappeared, communication and his IQ improved. The esthetic results are quite acceptable allowing him better development. Conclusion. The early recognition of anomalies such as Dandy-Walker syndrome with occipital encephalocele using ultrasound may suggest interruption of the pregnancy on time [6-9]. However, the right diagnostic procedure for detecting deformities of the newborn and infant’s head at birth is MRI, and the adequate surgical treatment can prevent abnormal and excessive growth of the skull and disorders in the psychomotor development during child’s growth. A multidisciplinary approach may prevent new disabled individuals in the society.