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Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Shariati G, Hamid M, Saberi A, Andashti B, Galehdari H - Clin Case Rep (2014)

Bottom Line: Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern.Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI).Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

View Article: PubMed Central - PubMed

Affiliation: Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.

ABSTRACT
Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

No MeSH data available.


Related in: MedlinePlus

Brain magnetic resonance imaging (MRI) was made for the patient at the age of 2.5 showing abnormal myelination in white matter.
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fig01: Brain magnetic resonance imaging (MRI) was made for the patient at the age of 2.5 showing abnormal myelination in white matter.

Mentions: Van der Knaap et al. described first in 1995 a case of leukodystrophy with swelling and cysts. Their observations were based on clinical and neurobiological criteria 1. The reason for the swollen appearance of the white matter might be the myelin vacuolation affecting the outer myelin layers 2. However, macrocephaly and cerebral white matter abnormality is a specific neurological sign without gray matter involvement 2. Hereby, magnetic resonance imaging (MRI) can be useful tool for differential diagnosis 2. Brain MRI (without contrast) of our patient at age of 2.5 years old showed a diffuse myelination involving subcortical U fibers (Fig.1).


Molecular prenatal diagnosis of megalencephalic leukoencephalopathy with subcortical cysts in a child from southwest of Iran.

Shariati G, Hamid M, Saberi A, Andashti B, Galehdari H - Clin Case Rep (2014)

Brain magnetic resonance imaging (MRI) was made for the patient at the age of 2.5 showing abnormal myelination in white matter.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4352366&req=5

fig01: Brain magnetic resonance imaging (MRI) was made for the patient at the age of 2.5 showing abnormal myelination in white matter.
Mentions: Van der Knaap et al. described first in 1995 a case of leukodystrophy with swelling and cysts. Their observations were based on clinical and neurobiological criteria 1. The reason for the swollen appearance of the white matter might be the myelin vacuolation affecting the outer myelin layers 2. However, macrocephaly and cerebral white matter abnormality is a specific neurological sign without gray matter involvement 2. Hereby, magnetic resonance imaging (MRI) can be useful tool for differential diagnosis 2. Brain MRI (without contrast) of our patient at age of 2.5 years old showed a diffuse myelination involving subcortical U fibers (Fig.1).

Bottom Line: Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern.Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI).Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

View Article: PubMed Central - PubMed

Affiliation: Narges genetic & PND Laboratory, Kianpars East Mihan street, Ahvaz, Iran.

ABSTRACT
Megalencephalic leukoencephalopathy (MLC) is a rare neurological disorder with an autosomal recessive pattern. Clinical diagnosis was based on macrocephaly, recurrent seizure, and magnetic resonance imaging (MRI). Here we report first finding of a novel homozygous single base deletion in the MLC1 gene in an affected Iranian child causing a premature stop codon (p.L150fs.160X).

No MeSH data available.


Related in: MedlinePlus