Diagnosis of Occipital Meningocele at 10 Weeks of Gestation and its Natural Course – Imaging of Meningoencephalocele in Early Postembryonic Period

Introduction

Cephaloceles are herniations of meninges and/or neural tissue through a congenital skull defect. The skull defects nearly always occur in the midline and 75 – 80 % are occipital (Goldstein RB et al. Radiology 1991; 180: 803 – 808; Sandler MA et al. Radiographics 1986; 6: 1096 – 1099). Cephaloceles have been reported to occur at a rate of 1.2 per 10 000 births and account for approximately 8 – 15 % of neural axis dysraphisms (Goldstein RB et al. Radiology 1991; 180: 803 – 808). Cephaloceles may occur as isolated abnormalities or as part of a genetic or non-genetic syndrome and are associated with wide variety of concomitant central nervous system (CNS) malformations and extra-CNS anomalies (most notably, cystic dysplastic kidneys as a part of Meckel syndrome). Knowledge about the prognosis and other anomalies associated with this abnormality has been derived from studies of neonates and children. Mortality and associated anomalies in the fetus are likely to be underestimated in these studies because affected fetuses are often stillborn or die in utero. The live-born rate among prenatally detected cases is 47 % (Goldstein RB et al. Radiology 1991; 180: 803 – 808). The survival rate of patients born with cephaloceles has been reported to be 21 – 50 % and 74 – 100 % of the survivors are developmentally impaired (Goldstein RB et al. Radiology 1991; 180: 803 – 808; Lorber J et al. Dev Med Child Neurol 1967; Suppl 13: 75 – 86). Isolated cephaloceles have generally not been shown to be familial. When cephaloceles are part of genetic syndrome or associated with anomalies, the inheritance pattern is usually autosomal recessive (Villarreal GB et al. UpToDate 2010). The following provides a report of a case of prenatally diagnosed meningoencephalocele at 10 weeks of gestation with its natural course.