Table (E)T-1. Family history and additional clinical features of 13 patient with cerebral calcifications and cysts

Patient
1 / 2 / 3 / 4 / 5 / 6 / 7 / 8 / 9 / 10 / 11 / 12 / 13

Unaffected / affected siblings

/ 1/0 / 0 / 0/2a
(Pat 4) / 0/2
(Pat 3) / 1/0 / 2/1
(Pat 8) / 0/1b / 2/1
(Pat 6) / 0/0 / 3/0 / 7/0 / 2/0 / 2/0
Gestational age, weeks / 37 / 39 / 30 / 30 / 40 / 36 / 37 / 32 / 40 / 38 / 32 / 40 / 40
Birthweight Birthlength

OFC, SD

/ -3.5
4.0
2.5 / -3.0
-1.0
-2.0 / -4.0
-4.5
3.0 / -3.5
-3.0
-3.0 / -3.7
-4.0
-3.0 / -3.7
-3.8
-2 / -4.0
-4.5
-3.0 / -2.5
-0.5
0 / -4.0
-3.7
-2 / -2.2
0
na / -1.8
na / -3.0
-1.5 / na

Perinatal complications

/ CS: RhI
¯ gluc / asphyxia / CS: IUGR, RDS / CS: placental ablation / CS: abn CTG / — / CS: IUGR,
¯ gluc / — / — / — / placental ablation / — / —

Presenting sign

or symptom

/ glaucoma, leukocoria / seizure / retinal angiomasc / retinal angiomasc / squint, nyst. / poor vision, spast. / dysmorph / squint, spast. / spast. / squint / glaucoma / seizure / seizure
Seizures / - / + / + / + / - / + / + / + / + / + / + / + / +
Ataxia / - / + / - / + / + / + / + / + / + / + / - / - / +
Spasticity / + / + / + / + / + / + / + / + / + / + / + / - / +
Dystonia / - / + / - / - / + / - / + / + / + / - / - / - / -
Cognitive decline / dev. del / + / + / + / + / + / + / + / + / + / + / + / +
Visual outcome / RE blind / RE low vision / blind / RE blind LE 0.3 / RE blind
LE low vision / RE 0.5
LE 0.1 / RE blind
LE low vision / blind / LE blind / blind / RE blind LE low vision / norm / central visual deficits

a Patient 4 and stillborn brother with severe IUGR, intrauterine growth retardation; b brother with IUGR and dysmorphism died at age 1day; cdetected in prematurity screening; ht; hypertension; na, data not available; OFC, occipitofrontal circumference; CS, caesarean section, RhI, Rhesus immunization; RDS, respiratory distress syndrome; abn CTG, abnormal cardiotocography; nyst, nystagmus; spast, spasticity; dysmorph, dysmorphism (patent ductus arteriosus, meatal atresia, cleft lip, rudimentary thumbs, syndactyly ASD, arterial septal defect); dev.del, developmental delay; RE, right eye; LE, left eye;