Document Detail

A child with macrocephaly: case report of a patient with megalencephalic leukoencephalopathy with subcortical cysts and a compound heterozygosity for two mutations in the MLC1 gene.
MedLine Citation:
PMID:  21487377     Owner:  NLM     Status:  In-Data-Review    
Megalencephaly is as a rule accompanied by macrocephaly, an occipitofrontal circumference (OFC) greater than the 98th percentile. Megalencephaly is divided into an anatomic type (developmental) and a metabolic type. Metabolic megalencephaly refers to various storage and degenerative encephalopathies. The differential diagnosis includes Alexander's disease, Canavan's disease, glutaric aciduria type 1, GM1 and GM2 gangliosidosis, merosin-deficient variant of congenital muscular dystrophy and megalencephalic leukoencephalopathy with subcortical cysts (MLC). The distinctive features of this syndrome are enlarged cranial circumference, present at birth or starting in the first year of life, and magnetic resonance imaging (MRI) evidence of diffuse with matter abnormalities with subcortical cysts in the tips of the temporal lobes and in frontoparietal subcortical areas. Mutations in the MLC1 gene have been found as causative of MLC in 60-70 % of affected subjects, without genotype-phenotype correlation. The child we describe presented with progressive macrocephaly not associated with dysmorphic features and large abdominoscrotal hydrocele. At the age of 8 months, encephalic MRI showed anomalies suggestive for MLC and brainstem auditory evoked potentials (BAEP) documented alterations of signal conduction in right tracts. At the time, clinical neurologic examination was normal. Extensive metabolic assays were within normal range. Sequence analysis for MLC1 gene revealed a compound heterozygosity for two mutations in MLC1 gene, inherited from healthy non consanguineous parents.
A G Delmonaco; E Gaidolfi; G C Scheper; E Girardo; C Molinatto; E Belligni; G B Ferrero; M Cirillo Silengo; M Van Der Knaap
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Minerva pediatrica     Volume:  63     ISSN:  0026-4946     ISO Abbreviation:  Minerva Pediatr.     Publication Date:  2011 Apr 
Date Detail:
Created Date:  2011-04-13     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0400740     Medline TA:  Minerva Pediatr     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  125-9     Citation Subset:  IM    
Department of Pediatric Sciences, University of Turin, Turin, Italy -
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