gms | German Medical Science

Objective: In 1976 Shapiro and Shulman described a syndrome consisting of bilateral facial nevi, macrocephalus and anomalous venous drainage in infants. One child developed hydrocephalus, both patients showed additionally dilated superficial head veins. To date, only a few other cases have been published in the literature. We report an exceptional case with venous anomaly and rapidly increasing hydrocephalus.

Case presentation: At the age of 9 months, the head circumference increased by 6 cm. The child developed a tense fontanelle and a sunset phenomenon, the superficial head veins were dilated and we found several facial nevi. Ultrasound demonstrated enlarged external cerebrospinal fluid (CSF) spaces and a relevant midline shift, similar to arachnoidal cysts. The magnetic resonance imaging (MRI) showed additionally a combined hydrocephalus and a developmental venous anomaly. A unilateral subduroperitoneal shunt with gravitational unit was implanted and shortly after the intervention the sunset phenomenon disappeared. In the postsurgical MRI we saw unexpectedly massively enlarged draining veins.

Conclusion: The clinical findings in our child are similar to those described in 1976 by Shapiro and Shulman. Comparing the published reports of neurocutaneous syndroms with hydrocephalus, one finds differences in the anomalies of venous drainage. In our case the existing hydrocephalus concealed a preexisting varices, which we detected only in the postsurgical MRI.