Table 1. Clinical features of five Korean patients with megalencephalic leukoencephalopathy with subcortical cysts.

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5
Gender	Female	Male	Female	Female	Male
Present age	6 yr 5 m	7 yr 10 m	5 yr 10 m	16 yr	12 yr 10 m
Onset age	1 yr	1 yr 9 m	2 yr	9 m	2 yr
Initial symptom	Macrocephaly	Macrocephaly, ataxia	Macrocephaly, Ndevelopmental delay	Macrocephaly	Developmental delay
Independent walking	16 m	Ataxic gait at 28 m	19 m	Ataxic gait at 24 m	Ataxic gait at 24 m
Speech	Delayed 2-word sentences at 3 yr	Delayed 2-word sentences at 3 yr	Delayed with a few words at 2 yr	Normal	Normal
Cognition	Normal	Mild decline at 5 yr	Mild decline at 5 yr	Mild decline	Mild decline at 10 yr
Loss of walking	Walking with support (6 yr 5 m)	Walking with support (6 yr)	Walking alone but clumsy (5 yr)	Walking alone but clumsy (14 yr)	Loss of walking (12 yr)
Seizure (onset age)	+ (2 yr)	+ (3 yr)	–	+ (14 yr 2 m)	+ (2 yr 6 m)
Head circumference	53 cm (1 yr)	61 cm (1 yr 9 m)	54 cm (2 yr)	54 cm (2 yr)	55 cm (3 m)
	55.5 cm (2 yr)	62 cm (4 yr)		60 cm (8 yr)	57 cm (9 m)
	58 cm (3 yr)	63 cm (6 yr)			58 cm (10 m)
		63 cm (7 yr)			58 cm (11 yr)

Abbreviation: m, months.