P38.08: Dehydrated hereditary stomatocytosis ... - Wiley Online Library

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Aug 24, 2008 - University College of Medicine, Seoul, Republic of Korea,. 2Department of Radiology ... San Diego Perinatal Center, San Diego, United States.

24–28 August 2008, Chicago, USA

ensuing weeks the mass increased in size, causing compression of venous return with increase in pericardial effusion, development of cariomegaly with A-V valves regurgitation, polyhydramnios, and ascites. Pericardiocentesis was performed. By 34 wks the mass had grown to 43 × 44 mm with worsening cardiac failure; the baby was delivered by C/S followed by neonatal cardiac surgery (Fig 1b), but the baby died on the 5th day of life. Pathology analysis of tumor tissue showed invasive immature teratoma (Fig 1b-c). Discussion: Pericardial teratoma is generally a benign tumor, with good outcome after neonatal cardiac surgery. In this case the fastgrowing tumor proved to be a lethal invasive immature teratoma.

P38.07 Prenatal US and MRI diagnosis of Fryns syndrome H. J. Yang1 , K. A. Lee1 , C. W. Park1 , J. S. Park1 , J. K. Jun1 , H. C. Syn1 , J. Y. Cho2 1 Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Republic of Korea, 2 Department of Radiology and Institute of Radiation, Seoul National University College of Medicine, Seoul, Republic of Korea

Fryns syndrome is a very rare syndrome and is estimated to occur in 1 in 15,000 births. We experienced a case with Fryns syndrome. A 31 year-old woman was referred to our hospital following identification of congenital diaphragmatic hernia (CDH) at 29 gestational weeks. Amniocentesis revealed a normal karyotype. Ultrasound examination at visit showed a large left CDH. There were severe nasal hypoplasia with flat nose, micromelia, ambigious genitalia and fetal growth restriction. Fetal MRI at 30 gestational weeks showed a large CDH (Lung/head ratio: 1.2) with marked nasal hypoplasia, and partial agenesis of corpus callosum. These findings suggested Fryns syndrome. The fetus was delivered at 37 gestational weeks but died on that day.

P38.08 Dehydrated hereditary stomatocytosis showing variable expressivity: Report of two cases and review of the literature O. Ami1 , A. Nguyen1 , L. Garcon2 , M. V. Senat3 , R. Frydman1 , O. Picone1 1

Fetal Medicine Unit, Hopital Antoine Beclere, Clamart, France, 2 Hematologie, Universite de Kremlin Bicetre, Kremlin Bicetre, France, 3 Hopital Antoine Beclere, Clamart, France Dehydrated hereditary stomatocytosis (DHS) is a rare congenital hemolytic anemia mapping to 16q23–q24 of dominant autosomal transmission. Diagnosis is simply made with ektacytometry in parents, and shows antenatal edema or hydrops in fetuses. Here, we report the cases of two women from two different families known to present DHS that were followed antenataly in our unit. Both fetuses presented with hydrops. One developped severe form, with poor neonatal outcome, while the other developped benign form. Both discorded from their parent’s forms antenatally. This suggests that DHS is submitted to variable expressivity, and that there is no correlation between parents and children forms. Differences and potential explanations for this variability are discussed.

P38.09 Prenatal sonographic findings in a case of cardio-facio-cutaneous syndrome V. A. Catanzarite, N. B. Duerbeck San Diego Perinatal Center, San Diego, United States The differential diagnosis of the karyotypically normal fetus with cystic hygromas is extensive, and includes several syndromes for

Ultrasound in Obstetrics & Gynecology 2008; 32: 398–466

Poster abstracts

which DNA diagnosis can now be done. We present a case in which cystic hygromas had been seen at 17 weeks. Karyotyping was normal. On our initial sonogram, at 21 weeks, findings included cystic hygroma, anteriorly displaced aorta, prominent superior vena cava, and globular appearance to the left ventricle. Polyhydramnios and a protruberant fetal tongue developed in the third trimester. Delivery was prompted by cessation of fetal movement at 32 weeks gestation. Cord blood gas studies were normal. The infant had dysmorphic features and hypotonia and developed progressive cardiomyopathy with pulmonic stenosis and concentric biventricular hypertrophy. Differential diagnosis included Noonan, Costello, and CFC syndromes. The neonate subsequently expired. When DNA testing for CFC became available, a stored specimen was checked, and demonstrated a heterozygous missense mutation (c.1931 G > T ) in exon 11) of the BRAF gene consistent with the diagnosis of CFC syndrome. Cardio-facio-cutaneous (CFC) syndrome is a rare, devastating, sporadic syndrome which has recently been linked to gain-offunction mutations in the BRAF, KRAS, MEK1 and MEK2 genes of the RAS-extracellular signal-regulated kinase pathway. Abnormalities include developmental delay, postnatal growth impairment, characteristic facial features (prominent forehead, temporal narrowing, hypotelorism, posteriorly rotated ears) with or without web neck, cutaneous manifestations (sparse brittle hair, absent eyebrows, and hyperkeratosis of the palms and soles), and a variety of cardiac anomalies, including pulmonic stenosis and hypertrophic cardiomyopathy, often manifest only after birth. In utero diagnosis has not been described. Whether the unique cardiac findings described here will be seen in other cases awaits further sonographic observations.

P38.10 Neuroglial Heterotopia presenting as a submental mass P. W. Hui1 , T. P. W. Lam2 , K. Y. Leung3 1 Obstetrics & Gynaecology, Queen Mary Hospital, Hong Kong, Hong Kong, 2 Radiology, Queen Mary Hospital, Hong Kong, Hong Kong, 3 Department of Obstetrics & Gynaecology, Queen Mary Hospital, Pokfulam, Hong Kong

A 32 year old para 0 lady was referred to our Prenatal Diagnostic Clinic for management of a left submental mass in the fetus. The mass was detected during routine morphology scan at 18 weeks of gestation. It was well demarcated and predominantly solid with minimal vascularity. No other abnormalities were seen. At 24 weeks, it measured 3.9 × 2.9 × 2.6 cm and located in the cervical region underneath the left mandible. On surface rendering with 3D ultrasound, the lower border of it was well away from the fetal chest and the facial features were not distorted. Slow progressive growth of the mass and polyhydramnios were noticed on follow up scans. A fetal MRI was performed at 29 weeks for further delineation of the lesion. It showed a 5 cm circumscribed mass which obliterated the nasopharynx and compromised the oropharynx. The initial diagnosis was teratoma with possible airway obstruction. The patient presented at 30 weeks with threatened preterm labour and polyhydramnios. This was controlled with amnioreduction and tocolysis. A fetal MRI was repeated for assessment of the degree of airway obstruction at 34 weeks before delivery. The mass, measured 5.5 × 4.8 × 6 cm, was located over the left facial area with infiltration to the infratemporal fossa, obliteration of the nasopharynx and compression on the oropharynx. The narrowest area measured 3.5 mm in width. Ex utero intrapartum treatment (EXIT) was performed successfully with baby being intubated before delivery. A baby boy weighing 2360 gram was delivered. Postnatal CT scan confirmed the extent of the mass. Reconstruction of the imaging reviewed a bony defect in the skull base. The overlying dura was intact and there was no communication between the mass and the brain. The mass was excised in stages in the neonatal period.


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