Document Type
Case Report
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.
Recommended Citation
Ghous, Sana; Siddiqui, Alam Ibrahim; Soomro, Abdul Rahman; Shankar, Anjlee; Ali, Asif; and Bhatty, Shaheen
(2024)
"A Rare Presentation Of Brain Cystic Disease Linked With Ectodermal Dysplasia (Cerebrum Polycystica Vera): A Novel Neurocutaneous Syndrome,"
Pakistan Journal of Neurological Sciences (PJNS): Vol. 19:
Iss.
2, Article 2.
Available at:
https://ecommons.aku.edu/pjns/vol19/iss2/2
