Author/Authors :
Karimzadeh، Parvaneh نويسنده , , JAFARI، Narjes نويسنده Pediatric Neurology Department, Mofid Children Hospital, Faculty of Medicin, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , NEJAD BIGLARI، Habibe نويسنده Resident of Pediatrics, Mofid Children Hospital, Tehran, Iran , , Jabbehdari، Sayena نويسنده Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Disease (NRITLD) , , ALIZADEH، Mehdi نويسنده Resident of Pediatrics, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , ALIZADEH، Ghazal نويسنده Pediatric Neurology Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran , , NEJAD BIGLARI، Hamid نويسنده General Physician, Kerman University of Medical Sciences, Kerman, Iran Iran, Islamic Republic Of , , SANII، Sara نويسنده Department of Peri-Natal Medicine and Neonatology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran ,
Abstract :
Objective
Adrenoleukodystrophy disorder is one of the x-linked genetic disorders caused
by the myelin sheath breakdown in the brain. In this study, we present 4 yr
experience on this disorder.
Materials & Methods
The patients diagnosed as adrenoleukodystrophy in the Neurology Department
of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled
into the study. The disorder was confirmed by neuroimaging and clinical
findings along with genetic and neurometabolic assessment at Reference
Laboratory in Germany. We assessed age, gender, past medical history,
developmental status, clinical manifestations, and neuroimaging findings of
populous family with adrenoleukodystrophy.
Results
All of the patients were one populous family with high rate of consanguineous
marriages. This disorder was confirmed by genetic assessment, VLCFA and
brain MRI.
c.253_254insC, p.R85Pfs112* was found in heterozygote state and the
VLCFA assessment showed the typical pattern for adrenoleukodystrophy/
adrenomyeloneuropathy. This diagnosis was in agreement with the family
history and the clinical history of the patient. Since there have been a number
of cases in patient’s family in the past, so intensive follow-up on the family
especially detection the female members of the family of childbearing age was
recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All
patients with the same genotype had wide ranges of clinical presentation.
Conclusion
Early diagnose of this disease might help us for early intervention and prenatal
diagnosis for the disease in next siblings.
