A case of the Neu‐Laxova syndrome: Prenatal ultrasonographic monitoring in the third trimester and the histopathological findings

Abstract

A diagnosis of the Neu-Laxova syndrome was made by ultrasonography in the third trimester of pregnancy. Initial ultrasonographic examination, at approximately 28 wk gestation, showed intrauterine growth retardation (IUGR), hypoechoic skeletal structures, kyphosis, feeble fetal activity, and restricted limb movement. Subsequent sonograms showed microcephaly with a receding forehead and prominent eyes, generalised edema and flexion deformities of limbs. Late third trimester findings included polyhydramnios, swelling and webbing of the knee and elbow joints, and severe edema of the hands and feet, giving the impression of absent digits. The clinical features of this case are consistent with group II of Curry's classification of the Neu-Laxova syndrome [Curry, 1982]. The histopathological findings, a triad of dermatological features, poor cortex formation of the long bones, and central nervous system (CNS) dysgenesis, are discussed. In view of the 25% recurrence rate, at risk pregnancies should be carefully monitored by ultrasonography: at 6-8 wk for accurate dating, at 12-16 weeks for active fetal limb movement, and at 16-24 wk for facial and skeletal anomalies, the detection of IUGR, and polyhydramnios.

Cerebral abnormalities in the Neu‐Laxova syndrome

“…The lateral ventricles were dilated, especially the posterior horns, presenting a fetal persistence colpocephaly. Usually hippocampal formations are not identified [Scott et al, 1981;Muller et al, 1987;our cases]. In some cases, aplasia of olfactory structures [PoGySilova et al, 1976;Scott et al, 19811 or hypoplasia of olfactory and optic nerves [our cases] and undeveloped roof structure of the third and fourth ventricles, or hypoplasia of the spinal cord [Scott et al, 1981 ; our cases] were observed.…”

“…In full-term infants, neurons of the cortical plates are immature, hyperchromic, and have a laminated structure. The tendency to row formation of neurons was noted by Scott et al [1981], Fitch et al [1982], Mueller et al [1983], and Muller et al [ 19871. Three to 6 layers can be found in the cerebral mantle [ Fitch et al, 1982;Muller et al, 1987;our cases]. Horizontal lamination in our cases had much in common with the arrangement of fetal hemispheres at the fourth month.…”

Prenatal diagnosis of Neu-Laxova syndrome: a case report

“…The case was presented as an example for the question of phenotypic variability in Neu-Laxova syndrome [8]. Pulmonary hypoplasia, and hyperechoic calvaria, associated with acoustic shadowing which obscures any intracranial abnormality was reported in Neu-Laxova syndrome [9,10]. Other CNS abnormalities include lissencephaly, microgyria, hypoplastic cerebellum, abnormalities of corpus callosum and lateral ventricles and aplasia of olfactory structures and the optic nerves.…”

Antley-Bixler syndrome: description of two patients

“…Radioulnar synostosis can also be observed in triploidy [11], but in this case the chromosomal anomaly is diagnostic; this form of synostosis was also reported in two cases of short-limbed craniosynostotic campomelic dysplasia [6]. Flattening of the orbits, joint contractures, and humeroradial alterations are also present in the Neu-Laxova syndrome and in the Sekel-like syndrome, in which, however, the fundamental sign is neonatal microsomia due to delay in intrauterine growth, with microcephaly and abnormal shortness of the limbs, and in which the associated anomalies relate to systems and regions different from those affected in the Antle~Bixler syndrome [7,12,13].…”