1Department of pediatrics, Shahid Beheshti University of Medical Sciences (SBMU), Iran
2Genetics Research Center, University of Social Welfare and Rehabilitation Science, Iran
3Departments of Pediatrics, Ardabil University of Medical Sciences, Iran
4Kariminejad-Najmabadi Pathology & Genetics Center, Iran
*Corresponding author:Sepideh Tabarestani, Pediatric Neurologist, Pediatric Neurology Research center, Shahid Beheshti University of Medical Sciences (SBMU), Mofid Children Hospital, Tehran, Iran
Submission: October 29, 2017; Published: March 23, 2018
ISSN : 2576-9200Volume1 Issue5
Objective: To report a 7 years old girl with genetic and biochemical characteristics of zellweger spectrum disorder who presented with phenotype and neuro imaging findings of adrenoleukodystrophy.
Methods: Target gene sequencing was performed by using a custom designed panel for this patient with focused mutation analysis on 16 peroxisomal genes included in the panel. Sanger sequencing was used to confirm the identified mutation.
Results: This patient was homozygote for a missense mutation in exon 2 of the PEX 12 gene; c.541T>G (p.Tyr181Asp) which is a conserved residue in the N-terminal region crucial for localization to peroxisomes. Her parents and healthy sister were also found to have the same heterozygote mutation.
Conclusion: We suggest that PEX 12 gene mutations with a milder phenotype may be a potential candidate for posterior dominant leukodystrophy of childhood resembling X-linked ALD. This is entitled to pseudo- ALD and may be a diagnostic possibility in patients who develop ALD phenotype and neuroimaging particularly, in girls.
Keywords: Zellweger spectrum disorder; Childhood onset; Pseudo-ALD; PEX 12 gene; Novel mutation
Abbreviations: PBD: Peroxisomal Biogenesis Disorders; ZS: Zellweger Syndrome; NALD: Neonatal Adrenoleukodystrophy; IRD: Infantile Refsum Disease