Table 1 Clinical features of the Twins. HC: head circumference; 7-DHC: 7-dehydrocholesterol; IF1: Inhibitory factor 1; BMI body mass index, EEG electroencephalogram, n.v. normal values
Twin 1 | Twin 2 | |
|---|---|---|
Clinical features at birth | Weight 2090 g (− 1.3 SDS) | Weight 2285 g (− 0.6 SDS) |
Length 43 cm (− 1.5 SDS) | Length 43 cm (− 1.5 SDS) | |
HC 29.2 cm (− 2.4 SDS) | HC 29 cm (− 2.5 SDS) | |
Apgar score 8/9 | Apgar score 6/9 | |
7-DHC at birth (n.v. 0.02–0.29 mcg/ml) | 35.6 | 25.5 |
GI tract abnormalities | None | Pyloric stenosis (4.3 mm) (at 50 days of life) |
Heart (at birth) | Persistent ductus arteriosus | Patent forame ovale |
Brain | Neurodevelopmental delay, hypotonia | |
EEG age: 5.7 years | Unusual background activities and frequents slow spikes in centro-temporal regions, with clear activation during sleep and a sub continuous pattern. | |
Congenital acral malformations | Congenital hip dysplasia, bilateral feet hexadactyly, syndactyly of toes 2 and 3 and of toes 5 and 6, lower limbs asymmetry (left > right) | Bilateral clubfoot with syndactyly of toes 2 and 3 |
Hearing function | Left moderate-severe neurosensorial deafness (diagnosed at 10 months of age) | Normal (6.4 years old) |
Auxological assessment (age: 6.4 years) | Height − 5.0 SDS | Height − 3.3 SDS |
Weight − 5.3 SDS | Weight − 3.1 SDS | |
BMI −1.99 SDS | BMI −1.51 SDS | |
IF1 levels (age: 6.4 years) | 13.0 ± 0.8 pg/ml | 93.0 ± 1.1 pg/ml |
Cholesterol supplementation age: 6.4 years | 77 mg/kg/day | 55 mg/kg/day |