FaCD Online Syndrome Fact Sheet

Last updated: 21 Apr 2008

Name: Megalencephaly

Mode of Inheritance: AD?

Tumor features (possible)

ganglioneuroblastoma, extra-adrenal

Non-tumor features

developmental delay/mental deficiency/mental retardation
macrocephaly
megalencephaly

Comment

Megalencephaly, defined as any oversized and overweight brain irrespective of the patient's neurologic function[1], may occur in a range of disorders (e.g. Tay-Sachs disease, mucopolysaccharidoses, tuberous sclerosis, neurofibromatosis, overgrowth syndromes). Familial cases of megalencephaly in the absence of any of those known disorders have been reported[1]. A proband from a 3 generation family with this disorder developed mediastinal ganglioneuroblastoma[1].

References

[1] De Myer W. Megalencephaly in children: clinical syndromes,genetic patterns, and differential diagnosis from other causes of megalocephely. Neurology 1972; 22:634-643.