Balkan Journal of Medical Genetics

A NOVEL SPLICE-SITE MUTATION ON THE MLC1 GENE LEADING TO EXON 9 SKIPPING AND MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS IN A TURKISH PATIENT
Türkyılmaz A1,*, Ünver O2, Ekinci G3, Türkdoğan D2
*Corresponding Author: Ayberk Türkyılmaz, M.D., Department of Medical Genetics, Marmara University School of Medicine, Fevzi Çakmak Quarter Muhsin Yazıcıoğlu Street No. 10 Üst Kaynarca, Pendik, İstanbul, Turkey. Tel: +90-505-812-0334. Fax: +90-216-625-4545. E-mail: ayberkturkyilmaz@gmail.com
page: 89

CASE REPORT

An 8-month-old boy was admitted to our pediatric neurology clinic with macrocephaly. He was born as the third child to consanguineous parents. His developmental milestones were normal; however, his parents noted that he had a large head. At admission, his head circumference was 52 cm (>97 percentile) and his neurological examination was unremarkable. His magnetic resonance imaging (MRI) scan revealed bilateral, diffuse, symmetric structural white matter abnormalities, relatively sparing the cerebellum and bilateral subcortical temporal cysts (Figure 1). Routine hematological, biochemical, and blood gas analyses were normal. Metabolic tests including tandem mass spectrometry (MS/MS), plasma amino acids, urine organic acids, lysosomal enzyme panel and very long chain fatty acids test were all normal. The diagnosis of Van der Knaap disease was suspected based on the clinical features and imaging findings and the genetic analysis revealed a novel homozygous c.768+2T>C mutation of the MLC1 gene. His Denver II Developmental screening test at 16 months revealed mild delay in gross and fine motor domains and he was referred to physical therapy and rehabilitation. He began walking at 18 months of age. He is now 4 years old. His head circumference is 56 cm (>97 percentile). He has difficulties in walking alone and his family reported that they noticed recently that his speech has become slurred. On neurological examination, he has increased tonus prominent in the lower extremities associated with other pyramidal signs including increased deep tendon reflexes, extensor plantar responses and ankle clonus. His Denver II Developmental screening test revealed delay in all developmental domains mainly in gross motor domain and language is the least affected domain.

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