Megalencephalic leukoencephalopathy with subcortical cysts (MLC), a demyelination leukodystrophy, is usually characterized by early-onset macrocephaly and gradually progressive motor and mild mental deterioration. Variable clinical expression has been reported in MLC especially in adult cases. In this study, a multi affected family with variable phenotypes including an asymptomatic adult individual is reported to expand the clinical spectrum of MLC. A seven-year old boy was referred to our hospital due to macrocephaly and gait disturbance. According to brain magnetic resonance imaging (MRI) findings, molecular studies were done to confirm the probable diagnosis of MLC in index case followed by family segregation analysis. A homozygous splice site variant, c. 177+1G>T in MLC1 gene was found in proband, his mother and two aunts. Aunts were clinically affected but his mother had no clinical symptoms despite bi-allelic mutation in MILC1. The clinical data and available MRI findings were reviewed for these cases. A comprehensive searchwasconductedonclinical variations of MLC. Phenotypic variability and/or reduced penetrance are important phenomena in MLC. We extended phenotypic variation in MLC by reporting an asymptomatic adult case with a known pathogenic mutation in MLC1 gene.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is an autosomal recessive disorder characterized by macrocephaly, and slowly progressive clinical course marked by ataxia, spasticity and mental decline. MLC is caused by mutations in the gene MLC1 which encodes a novel protein, MLC1.Case Presentation: A 4-year-old girl with macrocephaly, spasticity, ataxia and abnormal cerebral white matter and subcortical cysts in brain MRI diagnosed with MLC. This is the first report of MLC in an Iranian family.Conclusion: MLC1 should be considered in children with macrocephaly and slowly progressive psychomotor decline. This disease can be prenatally diagnosed and genetic counseling offered for future pregnancies.

Purpose: Alzheimer’ s disease is a neurodegenerative disease that begins before clinical symptoms emerge. Amyloid-beta plaques and tau neurofibrillary tangles are the hallmark lesions of Alzheimer’ s Disease (AD). Amyloid-beta plaques deposition is associated with increased hippocampal volume loss. The tissue volume measures reflect multiple underlying pathologies contributing to neurodegeneration, of which are the most characteristics of AD. Anatomical atrophy, as evidenced using Magnetic Resonance Imaging (MRI), is one of the most validated, easily accessible and widely used biomarkers of AD. Measurements of whole brain and hippocampal atrophy rates from serial structural MRI are potential markers of the underlying neuroaxonal damage and disease progression in AD. In this study, we extract automatically subcortical brain structures in AD and control subjects. Materials and Methods: In this study we used 20 images (10 AD patients and 10 controls) taken from the Minimal Interval Resonance Imaging in Alzheimer's Disease (MIRIAD) dataset. We obtained volumes of Cerebrospinal Fluid (CSF), White Matter (WM), Grey Matter (GM), brain hemispheres, cerebellum and brainstem using volBrain pipeline. Subcortical brain structure segments and related volumes and label maps information were extracted. We compared left and right sides of some of the important brain area in AD for obtaining a biomarker with brain atrophy. Amygdala, caudate and hippocampus have shown to be undergone atrophy in AD. Results: We provided volume information of some intracranial areas such as brain hemispheres, cerebellum and brainstem. Conclusion: The results showed smaller hippocampal volume in AD patients compared to the controls. In addition to hippocampus, similar atrophy is also observable in amygdala and caudate.