Kyphoscolitic Type of Ehlers-Danlos Syndrome with Prenatal Stroke.

BACKGROUND: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS type VIA) is an autosomal recessive disorder characterized by connective tissue dysplasia. CASE CHARACTERISTICS: We report two children with perinatal stroke; accompanied by neonatal joint hypermobility, hypotonia; and early development of kyphoscoliosis. OUTCOME: Molecular analysis revealed a PLOD1 gene mutation. Our definitive diagnosis was a EDS VIA. MESSAGE: Prenatal brain stroke is a rare clinical feature of EDSVIA.

Comparative analysis of perinatal and postnatal factors, and general movement in extremely preterm infants.

STUDY AIM: To describe general movement in extremely premature infants and examine correlations with risk factors for antenatal, perinatal, and postnatal morbidity. STUDY TYPE: Prospective, single-center study. Nineteen patients were followed up. METHODOLOGY: The infants' general movement was analyzed using video recordings. Qualitative and quantitative assessments were performed during the writhing movement (WM) period and fidgety movement (FM) period. The quality of the general movements (GMs) and the scores achieved were then correlated with antenatal, perinatal, and postnatal factors. RESULTS: Infants' motor activity fluctuated during the WM period, especially in extremely premature infants where poor repertoire is often observed. No correlations were found between WMs and obstetric factors. Gestational age correlated with WMs' quality (p=0.023). WMs correlated with factors of postnatal morbidity such as chronic lung disease (CLD) (p=0.034) and nosocomial infections (p=0.05). At 3 months corrected age, the spontaneous movement quality are correlated with neurological explorations such as US brain (p=0.032), MRI (p=0.039), EEG (p=0.036), and neurological follow-up assessments (p=0.015). CONCLUSION: Prudence must be used when performing the analysis of general movement in extremely preterm infants. WMs may be influenced by perinatal morbidity, and possibly by the severe brain immaturity of these infants. WMs correlate with CLD and nosocomial infections. Analysis of general movement in infants of 3 months corrected age is a valuable means to detect neurological disorders.