A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome

Sana Ghous; Alam Ibrahim Siddiqui; Abdul Rahman Soomro; Anjlee Shankar; Asif Ali; Shaheen Bhatty

doi:10.56310/pjns.v19i02.308

Sana Ghous Chandka Medical College Hospital, Larkana
Alam Ibrahim Siddiqui Chandka Medical College Hospital, Larkana
Abdul Rahman Soomro Chandka Medical College Hospital, Larkana
Anjlee Shankar Chandka Medical College Hospital, Larkana
Asif Ali Chandka Medical College Hospital, Larkana
Shaheen Bhatty Dr. Ruth K.M. Pfau Civil Hospital Karachi

DOI: https://doi.org/10.56310/pjns.v19i02.308

Keywords: Cerebrum Polycystica Vera, Ectodermal Dysplasia, Neurocutaneous Syndrome, Seizures, Neuroimaging, Nervous System, Integumentary System

Abstract

Neurocutaneous syndromes comprise a diverse group of conditions affecting both the nervous system and the integumentary system. Within this spectrum, we present a rare and compelling case of cerebrum polycystica vera associated with ectodermal dysplasia in a 30-year-old male. The patient's clinical journey includes a sequence of seizures progressing to left-sided weakness, accompanied by compelling dermatological manifestations. Extensive neuroimaging studies, including MRI and CT scans, reveal the presence of multiple cysts in the brain, highlighting the distinct nature of this novel neurocutaneous syndrome. Based on the authors’ knowledge, this represents the first documented case report from Pakistan, while a few cases have been documented in international publications.