Cystic hygroma associated with Noonan's syndrome

Abstract

Ultrasound has proven to be a useful tool in the diagnosis of fetal These abnormalities may exist with intrauterine fetal demise. The characteristic sonographic findings in one of these anomalies, cystic hygroma, have been previously d e~c r i b e d .~-~ This anomaly is often associated with Turner's syndrome. We report a case of cystic hygroma seen at sonography in a fetus with Noonan's syndrome.' CASE HISTORYA 24-year-old primagravida at 22 weeks gestational age by dates was referred to MageeWomens Hospital for delivery of an intrauterine fetal demise. The patient had felt no fetal movement for 3 weeks and the uterus was small for dates.Sonography on admission showed a single fetus with a BPD equivalent to 15 weeks gestation. Neither fetal motion nor cardiac activity was seen. A large septated cystic mass (Fig. 1) projected posteriorly from the head and neck. Fetal ascites and generalized subcutaneous edema were present (Fig. 2). The impression was intrauterine fetal demise with findings suggesting a cystic hygroma.Labor was induced by Pitocin and shortly thereafter the patient delivered a 210-g stillborn male. A t autopsy there were cystic hygromas in the neck and left axilla, a small chest, lymphangiectasia, hypertelorism, low-set ears, webbed neck, broad nasal base, coarctation of the aorta, and a hypoplastic left heart with a ventricular septa1 defect and a persistent left inferior vena cava. The testes were undescended but otherwise normal. No myelomeningocele was present. A From the

Noonan syndrome: A cryptic condition in early gestation

“…This view is supported by the observations of Allanson et al [1985] and Sharland et al [1992]. In view of the difficulty to establish a postnatal diagnosis, it is not surprising that despite the distinctive phenotype and the common association with congenital lymphatic and cardiac abnormalities, only six reports of prenatal sonographic features of Noonan syndrome were found in the literature [Zarabi et al, 1983;Witt et al, 1987;Benacerraf et al, 1989;Izquierdo et al, 1990;Donnefeld et al, 1991;Sonesson et al, 1992]. In only two reports was the diagnosis of Noonan syndrome suspected during pregnancy [Benacerraf et al, 1989;Donnefeld et al, 1991], whereas other authors described sonographic findings retrospectively in patients diagnosed postnatally.…”

“…Lymphedema, cystic hygroma, and cardiomyopathy during late stages of gestation were reported in fetuses with Noonan syndrome [Zarabi et al, 1983;Witt et al, 1987;Benacerraf et al, 1989;Izquierdo et al, 1990;Donnefeld et al, 1991;Sonesson et al, 1992]. Recently, with the introduction of early ultrasonographic screening for fetal aneuploidy, fetuses with "nuchal translucency" and normal karyotype were occasionally found to have Noonan syndrome [Johnson et al, 1993;Trauffer et al, 1994;Souka et al, 1998].…”

First Trimester Diagnosis of Fetal Nuchal Edema

“…In 2 cases, lymphedema was associated with other abnormal findings. Resolution of FNE (17 cases) could be observed if the karyo type was normal at 15.7 WA (range [12][13][14][15][16][17][18][19][20][21][22] and the outcome resulted in normal delivery with morphologically normal infants at or close to term. In one case (No.…”

“…If the fetus was euploid, the persistence of sonographic signs may have suggested an elective termina tion of pregnancy. Indeed, other syndromes with normal karyotype, such as familial ptery gium colli, Robert's syndrome and Noonan's syndrome, have been described as also having cystic hygroma [11][12][13].…”

Prenatal sonographic documentation of cystic hygroma regression in Noonan syndrome

“…Spontaneous resolution of nuchal cystic hygroma has also been documented sonographically in Down's syndrome [Rodis et al, 19881 and Ullrich-Turner syndrome [Chodirker et al, 1988;Mostello et al, 19891. Not all prenatally diagnosed cystic hygromata in fetuses with Noonan syndrome resolve. Their appearance may predate fetal hydrops or accompany fetal death [Zarabi et al, 1983;Benacerraf et al, 19891. In prenatally diagnosed fetuses with Noonan syndrome, the timing of cystic hygroma regression appears to be an important factor in determining survival.…”