Causes of macrocephaly includes?: (A) Galactosemia, (B) Weaver syndrome, (C) Soto's syndrome, (D) All of the above
Answer is D. Causes of Megalencephaly Lysosomal storage diseases: Gangliosidosis, MPS Carbohydrate disorder: Galactosemia Aminoacidurias: Maple Syrup urine disease, Glutaric aciduria type-1 Neurogenerative diseases: Alexander disease, Canavan disease, Metachromatic leukodystrophy Neurocutaneous diseases: Neurofibromatosis, Tuberous sclerosis, Soto's syndrome, Achondroplasia Benign familial Megalencephaly Weaver syndrome: A condition that involves tall stature with or without macrocephaly, a variable degree of intellectual disability & characteristic facial features. Ref: Nelson's edition, 6th edition, page 370.