International Journal For Multidisciplinary Research

E-ISSN: 2582-2160   •   Impact Factor: 9.24

A Widely Indexed Open Access Peer Reviewed Multidisciplinary Bi-monthly Scholarly International Journal

Call for Paper Volume 6 Issue 6 November-December 2024 Submit your research before last 3 days of December to publish your research paper in the issue of November-December.
Submit Research Paper Join as a Reviewer

Plagiarism is checked by the leading plagiarism checker TurnItIn

Call for Paper

Volume 6 Issue 6
November-December 2024

Submit your research paper

Indexing Partners
Academia Advanced Sciences Index Bielefeld Academic Search Engine CiteSeer DRJI Google Scholar Independent Search Engine & Directory Network ISI (International Scientific Indexing) Issuu Mendeley Research Networks
RefSeek ResearcherId - Thomson Reuters ResearchGate Scirus Scribd Semantic Scholar UTeM - Universiti Teknikal Malaysia Melaka Wiki for Call for Papers WorldCat Zenodo

Biotinidase Deficiency and Aplasia Cutis Congenita with Ecterodactyly Syndrome (ACCES) in a case of Moya Moya Disease: A Missing Link

Author(s) Deepak Mulchandani, Varsha Valsan, Pranali Dagale
Country India
Abstract Biotinidase Deficiency (BD) is a rare autosomal recessive disorder caused by mutations in the BTD gene, leading to impaired biotin recycling and disruption in energy metabolism, oxidative stress, and blood-brain barrier function. This condition increases the risk of neurovascular events such as strokes. In parallel, the UBA2 gene's loss of function, through various mutations, results in Aplasia Cutis Congenita with Ectrodactyly (ACCES) syndrome, an autosomal dominant disorder with highly variable expressivity. ACCES syndrome commonly presents with scalp defects and less frequently with ectrodactyly, alongside other subtle skeletal anomalies, early growth deficiency, and neurodevelopmental delay.

This case report discusses a 6-year-old child presenting with an acute stroke and distinct dysmorphic features, highlighting a rare association between Biotinidase Deficiency and ACCES syndrome, which likely contributed to the development of Moya Moya Disease (MMD), a rare progressive cerebrovascular disorder. The case suggests that the combination of neurovascular stress due to both BD and ACCES may increase the risk of stroke and MMD in affected individuals. This underscores the importance of recognizing overlapping genetic conditions that could lead to severe neurovascular complications.
Keywords Biotinidase, Aplasia cutis congenita, moya moya disease, UBA2 gene
Field Medical / Pharmacy
Published In Volume 6, Issue 5, September-October 2024
Published On 2024-10-28
Cite This Biotinidase Deficiency and Aplasia Cutis Congenita with Ecterodactyly Syndrome (ACCES) in a case of Moya Moya Disease: A Missing Link - Deepak Mulchandani, Varsha Valsan, Pranali Dagale - IJFMR Volume 6, Issue 5, September-October 2024. DOI 10.36948/ijfmr.2024.v06i05.29501
DOI https://doi.org/10.36948/ijfmr.2024.v06i05.29501
Short DOI https://doi.org/g8pnjk
View / Download PDF File

Share this



E-ISSN 2582-2160
CrossRef

CrossRef DOI is assigned to each research paper published in our journal.

IJFMR DOI prefix is
10.36948/ijfmr

Downloads
Research Paper Format Copyright Permission Form and Undertaking Form Cover Page Vol 6 Isu 6Cover Page Vol 6 Isu 5Cover Page Vol 6 Isu 4

All research papers published on this website are licensed under Creative Commons Attribution-ShareAlike 4.0 International License, and all rights belong to their respective authors/researchers.

CC-BY-SA Open Access

About IJFMR
Fees & Payment
Current Issue
Publication Archive 		Submit Research Paper
Track Submission Status
Publication Guidelines
Publication Ethics
Peer Review & Plagiarism 		Join as a Reviewer
Editors & Reviewers
Reviewer Referral Program
Get Reviewer Membership Certi. 		Website/Journal Policies
Usage Policy
Content Policies
Privacy Policy
Contact Us +91-9898-5948-55 editor@ijfmr.com