In fetuses with normal lungs, FLV distribution against gestational age is easily assessed in utero with fast spin-echo T2-weighted MR imaging. These preliminary findings illustrate the potential for comparing FLV measurements in fetuses at risk of lung hypoplasia with normative values.

Objectives To investigate the correlation between fetal lung volume (FLV), measured with magnetic resonance imaging (MRI), and postnatal mortality in newborns with prenatally diagnosed isolated congenital diaphragmatic hernia (CDH). Methods

In a retrospective study of 22 neonates with congenital diaphragmatic hernia, fetal lung volume (FLV) measured by magnetic resonance imaging was associated with survival; the best FLV ratio cut-off to predict mortality was 30% of expected FLV. This study supports a correlation between FLV and the chances of survival. Despite advances in postnatal care, the death rate in patients with congenital diaphragmatic hernia (CDH) remains as high as 40-60%.1 Reliable outcome predictors are needed to provide families with accurate prognostic information, to optimise postnatal care, and to detect patients who may be candidates for future prenatal treatments.1 However, prenatal prediction of prognosis in patients with isolated CDH remains a challenge. 1Lung hypoplasia is a key prognostic factor.1 This can be estimated by fetal lung volume (FLV) measured by magnetic resonance imaging.2 However, the predictive value of FLV remains controversial. [3][4][5] We evaluated the potential for FLV to predict survival in neonates with CDH. STUDY DESIGN PatientsWe conducted a retrospective study of neonates with prenatal diagnosis of CDH between January 1996 and August 2004 and FLV measurement by magnetic resonance imaging. We excluded voluntarily terminated pregnancies and neonates without FLV measurement. Neonates were inborn and managed according to the same protocol through the years. Measurement of FLVMagnetic resonance imaging was performed at 30-32 weeks gestation, using a 1.5 T system. Lung boundaries were manually outlined on axial T2 weighted sequences. The lung surface area was multiplied by section thickness and corrected for gap to yield a partial FLV. The sum of partial FLV yielded the FLV. Predicted FLVs were estimated as FLV = 0.0033 6 g 2.86 , where g is gestational age.2 We then computed the ratio of observed over predicted FLV (hereafter designated ''FLV ratio'').The primary evaluation criterion was the association between postnatal mortality and FLV ratio. We also compared the prognostic value of FLV with that of gestational age at birth, gestational age at diagnosis of CDH, fetal sex, side of CDH, and liver herniation. Data are reported as mean (SD) unless specified otherwise. RESULTSTwenty two neonates were studied, and 10 survived. The FLV ratio was lower in non-survivors than in survivors (25.1 (12.8)% v 46.9 (11.6)% respectively; p,0.01). The area under the receiver operator characteristic curve of sensitivity and specificity of various ratio cut-offs for predicting postnatal death was 0. 92 (fig 1). The best cut-off was 30%, with a sensitivity of 0.83 (0.55-0.95) and a specificity of 1.00 (0.72-1.00). In our study, the FLV ratio was the only variable significantly associated with mortality (p,0.01) (table 1). DISCUSSIONIn this retrospective study of 22 neonates with CDH, the FLV ratio correlated with neonatal survival. The receiver operator characteristic curve identified 30% as the best FLV ratio cutoff for predicting survival.Prognostic interest of FLV in CDH has previously been evaluated in three studies.3-5...

Mutations in the CHRNG gene cause autosomal recessive multiple pterygium syndrome (MPS).Herein we present a long-term follow-up of seven patients with CHRNG-related nonlethal MPS and we compare them with the 57 previously published patients. The objective is defining not only the clinical, histopathological, and molecular genetic characteristics, but also the type and degree of muscle involvement on whole-body magnetic resonance imaging (WBMRI). CHRNG mutations lead to a distinctive phenotype characterized by multiple congenital contractures, pterygium, and facial dysmorphism, with a stable clinical course over the years. Postnatal abnormalities at the neuromuscular junction were observed in the muscle biopsy of these patients.Laura Carrera-García and Daniel Natera-de Benito contributed equally to this study.

A case of a “de novo” ganglioneuroma showing a large area of malignant peripheral nerve sheath tumor (MPNST) is described. The tumor arose in an 11.5‐year‐old girl with neither stigmata nor family history of von Recklinghausen's neurofibromatosis. In addition, the patient had no previous history of a neuroblastoma or radiation therapy. This report provides new evidence that, although rare, the spontaneous development of an MPNST in a benign ganglioneuroma can occur. Immunohistochemical and electron microscopy studies supported the finding that the spindle cell component was of nerve sheath origin. Med. Pediatr. Oncol. 28:216–222 © 1997 Wiley‐Liss, Inc.