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

[摘要] 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.

[学科分类] 生物化学工程

[关键词] Dandy-Walker;Joubert;Joubert-Plus;Atretic cephalocele;Case report