Hemimegalencephaly in hypomelanosis of Ito: early sonographic pattern and peculiar MR findings in a newborn.

Sonography is a reliable tool for the evaluation of the most severe congenital abnormalities of the brain; in the present case it provided an early demonstration of hemimegalencephaly in hypomelanosis of Ito in a newborn affected by body hemihypertrophy and skin lesions. Serial magnetic resonance (MR) examinations confirmed the asymmetry of the cerebral hemispheres, and documented the evolution of the hemispheric growth and the presence of unusual aspects.

Impact of new treatments for respiratory failure on outcome of infants with congenital diaphragmatic hernia.

UNLABELLED: Term and near-term newborn infants with congenital diaphragmatic hernia (CDH), symptomatic in the first 24 h of life or diagnosed antenatally, without other significant malformations were treated at our hospital with high-frequency oscillatory ventilation (HFOV) as a primary modality of ventilation and elective delay in surgical repair after a period of stabilisation. When unresponsive to HFOV, infants were treated with surfactant, inhaled nitric oxide (iNO) and extracorporeal membrane oxygenation (ECMO) to achieve pre-operative stabilisation. From October 1994 to August 1998, 28 newborn infants with CDH were managed with such treatment; mean birth weight was 3184 +/- 535 g and gestational age 38.5 +/- 1.85 weeks. Age at operation was 68 +/- 35 h. In 9 cases, large diaphragmatic defects required the use of a prosthetic patch (Gore-tex). HFOV was used for primary ventilation in inborn patients (n = 16); outborn infants (n = 12) were placed on HFOV at admittance. A total of 15 patients (53%) were stabilised using only HFOV. Bovine surfactant was administered in 12 infants and 4 responded. iNO was used in eight infants and five responded. ECMO was used in three outborn patients and one survived. Overall, out of 28 infants, 25 survived (89%). Neurological examination (Amiel-Tison and Grenier) of 15 infants showed transient anomalies at 6 months in 40% of infants, while a normal neurological examination was present in all patients at 1 year. The development quotient (Griffiths scales) was within normal values in ten and mildly abnormal in two infants tested at 1 year. CONCLUSION: Management based on early HFOV, eventually associated with surfactant, iNO and ECMO to achieve preoperative stabilisation, resulted in a good survival rate (89%) and good neurodevelopmental outcome at 1 year of age in infants with CDH.