Objective: To show that the head may shrink in adult patients with aspartylglucosaminuria (AGU), a neurodegenerative disease.
Method: The head circumference (HC) of 40 adult patients (age at baseline 15 to 47) was measured twice with an interval of 10 years. Of these 40, 21 aged 15-47 and 19 young patients aged 5-14 as well as 40 healthy controls underwent lateral cephalometric radiography.
Results: During 10 years' follow-up, the HC of 26 (65%) had decreased by 1 to 4.5 cm (mean 1.7, P < 0.001). Evaluation of lateral skull radiographs revealed that patients aged 15 or more had significantly thicker skulls than did younger patients (P = 0.015). Mean intracranial length (glabella-opisthocranium) of the patients aged 15 or more was significantly shorter than in patients aged 14 years or less (P = 0.029). These measurements indicated that brain volume had decreased.
Conclusions: Macrocephalia in childhood followed by reduced brain volume in adulthood is evident in patients with AGU and is reflected by a decrease in head size.