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conferenceseries
.com
Volume 2, Issue 4 (Suppl)
Clin Pediatr, an open access journal
ISSN: 2572-0775
Pediatrics & Pediatric Neurology 2017
August 31-September 02, 2017
August 31-September 02, 2017 | Prague, Czech Republic
13
th
European
Pediatrics & Pediatric Neurology Conference
Clinical, neuroimaging and genetic characteristics of megalencephalic leukoencephalopathy with subcortical
cysts in Egyptian patients
Alice K Abdel Aleem
1
, Iman G Mahmoud
2
, Marwa Mahmoud
3
, Miral Refaat
3
, Marian Girgis
2
, Nevin Waked
2
, Ameera El Badawy
2
, Laila Selim
2
and
Sawsan
Hassan
2
1
Weill Cornell Medicine in Qatar, Qatar
2
Cairo University Children Hospital, Egypt
3
National Research Centre, Egypt
Background:
Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare and genetically heterogeneous cerebral
white matter disease. Clinically, it is characterized by macrocephaly, developmental delay, and seizures. We explore the clinical
spectrum, neuroimaging characteristics, and gene involvement in the first patients with megalencephalic leukoencephalopathy with
subcortical cysts described from Egypt.
Patients:
Six patients were enrolled from three unrelated families. Patient inclusion criteria were macrocephaly, developmental delay,
normal urinary organic acids, and brain imaging of diffuse cerebral white matter involvement. Direct sequencing of the MLC1 gene
in patients’ families and gliaCAM in one questionable case was performed using BigDye Terminator cycle sequencing.
Results:
Clinical heterogeneity, both intra- and interfamilial, was clearly evident. Developmental delays ranged from globally severe or
moderate to mild delay in achieving walking or speech. Head circumference above the ninety-seven percentile was a constant feature.
Neuroimaging featured variability in white matter involvement and subcortical cysts. However, findings of posterior fossa changes
and brain stem atrophy were frequently (66.6%) identified in these Egyptian patients. Discrepancy between severe brain involvement
and normal mental functions was evident, particularly in patients from the third family. MLC1 mutations were confirmed in all
patients. Deletion/insertion mutation in exon 11 (c.908-918delinsGCA, pVal303 Gly fsX96) was recurrent in two families, whereas a
missense mutation in exon 10 (c.880 C>T, p.Pro294Ser) was identified in the third family.
Conclusions:
This report extends our knowledge of the clinical and neuroimaging features of megalencephalic leukoencephalopathy
with subcortical cysts. It confirms the apparent lack of selective disadvantage of MLC1 mutations on gamete conception and
transmission as supported by the presence of multiple affected siblings in Egyptian families.
Biography
Alice K Abdel Aleem has her expertise in the field of Human Clinical and Molecular Genetics with interest in Neurogenetics disorders. Her primary area of interest
is to provide reliable and high-quality research results to health care Physicians to improve diagnostics in human genetic disorders. Her current Extramural
Funded Research is focusing on genes identification in monogenetic disorders. She is mainly concerned with building clinical and genomic databases for patients,
encountered in Qatar, with spastic paraplegias, heritable muscle diseases, brain malformation, and interesting unrecognized Mendelian disorders. Results of her
research is functionally investigated in her lab and in collaboration with investigators of international academic institutes to be able to provide confirmed information
to the health care Physicians to use in counseling and managing their patients.
aka2005@qatar-med.cornell.eduAlice K Abdel Aleem et al., Clin Pediatr 2017, 2:4 (Suppl)
DOI: 10.4172/2572-0775-C1-002