Neuroectodermal Diseases: A Comparative Case Report Study

Neuroectodermal disease involves abnormalities that arise from the ectodermal origin, such as the nervous system, eyeball, retina, and skin. Due to the rarity of the disease, it is often underdiagnosed or misdiagnosed. In this study, the researcher presents two cases of pediatric patients with no fe...

Full description

Saved in:
Bibliographic Details
Published in:Curēus (Palo Alto, CA) CA), 2023-06, Vol.15 (6), p.e40349
Main Authors: Cruz, John Paul M, Sy, Michelle
Format: Article
Language:English
Subjects:
Biopsy
Blood tests
Case reports
Convulsions & seizures
Disease
Electrolytes
Emergency medical care
Epilepsy
Neurology
Other
Patients
Pediatrics
Skin
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Neuroectodermal disease involves abnormalities that arise from the ectodermal origin, such as the nervous system, eyeball, retina, and skin. Due to the rarity of the disease, it is often underdiagnosed or misdiagnosed. In this study, the researcher presents two cases of pediatric patients with no fetomaternal complications who presented with focal seizures as their initial complaint. During the examination, varying skin color pigmentation and an abnormal neurophysical examination were observed. Cranial imaging showed hemimegalencephaly and voltage asymmetry on EEG. Skin biopsy was performed on both cases, which revealed basketweave orthokeratosis. The combination of a triad of intractable epilepsy, developmental delay, and cutaneous lesion prompted the consideration of a neuroectodermal disease. The study shows two cases of hypomelanosis of Ito and nevus syndrome, both of which may be due to mTOR and RAS pathways, respectively.
ISSN:2168-8184
2168-8184
DOI:10.7759/cureus.40349