Abdulhakeem S. Alqarni 1 *, Khalid H. Alzahrani 2, Mazen Tayeb 2, Khalil A. Almalki 1
1 Department of Orthopedic Specialized Surgery, King Abdullah Medical City, Makkah, Saudi Arabia.
2 Department of Orthopedic Surgery, Security Force Hospital, Makkah, Saudi Arabia.
Volume: Special Issue | Pages: 29-37| April 2025| https://doi.org/10.54940/ms35324902 | PDF
Received:29/09/2024 |Accepted:23/01/2025
*Corresponding Author: amkhojah@uqu.edu.sa
Abstract
Background: Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive form ofhyperimmunoglobulin E syndrome characterized by autoimmunity, atopy, recurrent infections, and in-creased malignancy risk. Neurological manifestations, including central nerv-ous system (CNS) vasculitis and stroke, have been documented, but progressive multifocal leukoencephalopathy (PML) remains a rarecomplication.
Case Report: We present the case of a 27-month-old female from a consanguineous family who pre-sented to the hospital with developmental regression and seizures, and was diagnosed with progressive multifocal leukoencephalopathy (PML). Laboratory evaluation revealed thrombocytosis, elevated inflam-matory markers, and a markedly elevated serum IgE level of 1783.5 IU/ml (normal range: ≤ 15 IU/ml).Whole-exome sequencing identified a homozygous mutation in the DOCK8 gene, affecting the splicesite in intron 15 (c.1797+1G>T). Despite extensive supportive treatments, including intravenous immu-noglobulin and antimicrobial prophylaxis, the patient’s condition continued to worsen. She is currently undergoing evaluation for hematopoietic stem cell transplantation (HSCT).
Conclusion:This case highlights progressive multifocal leukoencephalopathy (PML) as a rare but severe neurological complication of DOCK8 deficiency. Early recognition and treat-ment of DOCK8 defi-ciency are of paramount importance, as delays in diagnosis can result in severe complications, as demon-strated in our patient.
Keywords
CK8, PML, primary im-munodeficiencies, Central nervous system, hyperimmu-noglobulin E syndrome
How to Cite
Alqarni, A. Alzahrani, k. Tayeb, M. Almalki, K. (2025). DOCK8 Deficiency Presenting with Progressive Multifocal Leukoencephalopathy: A Case Report, Journal of Umm Al-Qura University for Medical Sciences, 10(2), 54-58.https://doi.org/10.54940/ms35324902
License
1658-4740/© 2025-by the Authors. Published by-J. Umm Al-Qura Univ. Med. Sci.-This is an open-access article distributed under the terms and conditions of the-https://creativecommons.org/licenses/by-nc/4.0/-