Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases

@article{Topu1998MegalencephalyAL,
  title={Megalencephaly and leukodystrophy with mild clinical course: a report on 12 new cases},
  author={M Fatih Topçu and I Saatci and Mehmet Akif Topçuoğlu and Gulşen Kose and Benal Kunak},
  journal={Brain and Development},
  year={1998},
  volume={20},
  pages={142-153}
}
Twelve patients with early infancy onset megalencephaly and leukodystrophy with a mild clinical course are reported. The neuroradiological, clinical, and genetic aspects of this recently recognized familial leukodystrophy syndrome were reviewed. Five were affected siblings, and all patients had consanguineous parents. Macrocephaly, a slowly progressive delay in motor development and mild mental deterioration constitute the clinical triad of the disease, showing characteristic age-related onset… CONTINUE READING
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