Joubert-Plus syndrome with an atretic cephalocele: a case report

Abstract

Joubert syndrome is a rare heterogeneous disease affecting the cerebellum. It usually presents with hypotonia, abnormal breathing pattern, with distinctive cerebellar and brain stem malformation called the molar tooth sign. It may present with different organ involvement or with other neurological alterations such as Dandy-Walker syndrome. Joubert syndrome with dandy walker syndrome is called Joubert-Plus syndrome, an exceedingly rare entity. Dandy-Walker syndrome is defined by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. Atretic cephalocele is another rare diagnosis which is characterized by a herniation of intracranial contents through a skull defect. Herein, we present a case of a 6-month-old patient who presented with floppiness and a scalp nodule. After further evaluation, he was diagnosed with Joubert-Plus syndrome with an atretic cephalocele.

Keywords: Atretic cephalocele; Case report; Dandy-Walker; Joubert; Joubert-Plus.

Fig. 1

(A) An axial FLAIR image of the brain shows the ‘molar tooth sign’. (B) An axial T2 image shows the cystic dilatation of the posterior fossa with the connection with the 4th ventricle giving the keyhole appearance.

Fig. 2

A sagittal T2 image shows an atretic cephalocele with cystic ballooning of the posterior fossa.

Fig. 3

An axial CT image of the brain shows a VP shunt in the posterior fossa, which appears small in comparison with the previous images.