증 례 ISSN 2093-9272일산병원학술지 2017;16(2):224-226

224 Korean Journal of National Health Insurance Service Ilsan Hospital

만삭의 수두증 태아의 자궁내 임신: 질식분만에 성공한 경우

국민건강보험 일산병원 산부인과

김의혁, 한상원

Intrauterine Growth of Fetus with Hydranencephaly to Term:

Vaginal Delivery with Enlarged Fetal Head Circumference

Eui Hyuck Kim, Sang Won Han

Department of Obstetrics and Gynecology, National Health Insurance Service Ilsan Hospital, Goyang, Korea

Hydranencephaly is a severe, sporadic brain abnormality characterized by the absence of the cerebral hemispheres; instead, a large fluid-filled sac-like structure surrounds the brain stem in the supratentorial space. The brainstem and rhomboencephalic structures are usually spared, and the head may be small, normally sized, or extremely enlarged. The etiology is generally unknown but has been associated with congenital infections such as TORCH syndrome and internal carotid artery narrowing. This condition is thought to result from extensive brain necrosis secondary to a vascular insult involving the internal carotid arteries after the brain and ventricles have fully formed. An incidence rate of 2.8 per 100,000 live births was reported in the U.S., and the condition is associated with poor outcomes. Fetuses with hydranencephaly rarely survive to full term as most are terminated before delivery. We present a rare case of a fetus with congenital hydranencephaly who survived full-term vaginal delivery.

Key Words: Hydroanecephaly, Vaginal delivery

책임저자 : 한상원10444 경기도 고양시 일산동구 일산로 100 국민건강보험 일산병원 산부인과전화 : (031)900-6965, 팩스 : (031)900-6967E-mail : han264@nhimc.or.kr

INTRODUCTION

Hydranencephaly is a severe, sporadic brain abnormality cha- racterized by the absence of the cerebral hemispheres; instead, a large fluid-filled sac-like structure surrounds the brain stem in the supratentorial space.1,2 The brainstem and rhomboe- ncephalic structures are usually spared, and the head may be small, normally sized, or extremely enlarged. The etiology is generally unknown but has been associated with congenital infections such as TORCH syndrome and internal carotid artery narrowing.3 This condition is thought to result from extensive brain necrosis secondary to a vascular insult involving the inter- nal carotid arteries after the brain and ventricles have fully formed. An incidence rate of 2.8 per 100,000 live births was reported in the U.S.,4 and the condition is associated with poor outcomes.5 Fetuses with hydranencephaly rarely survive

to full term as most are terminated before delivery. We present a rare case of a fetus with congenital hydranencephaly who sur- vived full-term vaginal delivery.

CASE REPORT

We booked antenatal care for a 36-year-old, gravida 2, para 1 (with termination history by vaginal delivery at 21 weeks’ gestation) woman at approximately 36 weeks gestation (based on fetal biometry) whose ultrasound examination revealed fetal hydranencephaly. She was unaware of her pregnancy until 2 weeks before referral and so she did not get any prena- tal care including her antenatal infection status.was told that there was a major anomaly at her first private hospital visit. Prenatal ultrasonography revealed the absence of the cerebral hemispheres, hypothalamus, and cavum septum pellucidum and the presence of falx cerebri and a fluid-filled saclike stru- cture surrounding the brain stem and a hypoplastic cerebellum (Fig. 1A, B, C). There was no sign of germinal matrix hemo- rrhage on ultrasonography. The estimated fetal body weight was 3 kg, the head was -39 weeks gestational size with a 9.7 cm biparietal diameter and 36.4 cm head circumference, and the abdomen and femur were -36 weeks gestational size. No

김의혁 외. 만삭의 수두증 태아의 자궁내 임신: 질식분만에 성공한 경우

Volume 16 Number 2 December 2017 225

Fig. 1. Sonography at about 36 gestational weeks. (A) Axial sonography of the foetal head at 36 weeks gestation showed anechoicfluid filling the supratentorial space. Part of the posterior aspect of the occipital lobe was visualised. (B) Axial sonography of the foetalhead at 36 weeks gestation showed incomplete preservation of the cerebellum and cisterna magna. (C) Prenatal axial ultrasound ofthe foetus (transabdominal transverse) showed incomplete preservation of the cerebellum and cisterna magna.

Fig. 2. Gross appearance after birth

Fig. 3. Magnetic resonance imageof newborn brain at 2 days. (A) Cerebral hemispheres were absentand there was a cerebrospinalfluid-filled sac in the supratentorialspace. (B). Cerebral hemisphereswere absent and there was acerebrospinal fluid-filled sac inthe supratentorial space. (C) Cere-bral hemispheres were absent and there was a cerebrospinal fluid-filledsac in the supratentorial space.

anomalies were found during evaluation of the heart, stomach, liver, kidney, bladder, or musculoskeletal structures. The amni- otic fluid index was13. The patient did not recall any episodes of fever, rash, or body pain or receiving treatment for infe- ction during the pregnancy. She denied any substance use and her clinical evaluation was unremarkable. We explained the prognosis of the fetus and she want to terminate the pregnancy due to anxiety. We were going to wait for spontaneous labor, however, which did not happen. Two weeks later, after deci- ding delivery with her consent, labor was induced, and a male infant was vaginally delivered with ventouse. He weighed 3,260 g with Apgar scores of 1 at 1 min and 3 at 5 min and a 38 cm head circumfernce, which was more than 97 percen- tile at 40 gestational weeks. The infant had a grossly normal appearance (Fig. 2). He was transferred to the NICU and intu- bated using SIMV mode. Two days later, he was extubated under close observation. Evaluations for congenital infection including TORCH were negative. Postpartum MRI revealed that both cerebral hemispheres were absent and there was a cerebrospinal fluid-filled sac in the supratentorial space, con- firming the results of the prenatal ultrasound (Fig. 3A, B, C). His chromosomal karyotype was normal. The baby was trans-

ferred to another hospital 43 days after birth for financial reasons and survived another 15 months there. In the 2 mon- ths before he died, his body temperature was unstable, with a spiking fever up to 40°C and muscle stiffness. He also suffe- red from gastrointestinal bleeding, low oxygen saturation, and irregular respiration. He died from pneumonia and bradycar- dia. His head had enlarged from a circumference 38 cm at birth to 79 cm, which was more than 97 percentile at the age, as a shunt operation had been refused.

DISCUSSION

Hydranencephaly is a malformation of the central nervous system resulting from errors of embryonic development post

EH Kim, et al. Intrauterine Growth of Fetus with Hydranencephaly to Term

226 Korean Journal of National Health Insurance Service Ilsan Hospital

-neurulation.6 Bilateral internal carotid artery occlusion, con- genital infection, and extensive hemorrhagic infarction follo- wing either germinal matrix hemorrhage or intraventricular hemorrhage are associated with hydranencephaly.7 A recent report described an individual with a COL4A1 mutation and extensive encephaloclastic lesions mimicking hydranencep- haly.3 An incidence rate of 2.8 per 100,000 live births was reported in the U.S.,4 and similar rates have been described in Japan.8

Congenital hydranencephaly typically results in spontane- ous abortion and is associated with very poor outcomes. In the present case, the woman was unaware of her pregnancy until 34 weeks gestation, and a diagnosis of hydranencephaly occurred at 36 weeks gestation. The infant was delivered vagi- nally at 38 weeks gestation and survived approximately 16 months.

REFERENCES

1. Romero R. Prenatal diagnosis of congenital anomalies. Nor- walk, Conn. u.a: Appleton & Lange; 1988.

2. Bianchi DW, Crombleholme TM, D'Alton ME. Fetology. 1st ed. New York: McGraw-Hill; 2000.

3. Meuwissen MEC, de Vries LS, Verbeek HA, Lequin MH, Go- vaert PP, Schot R, et al. Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly. Neurology 2011;76(9):844.

4. Husain T, Langlois PH, Sever LE, Gambello MJ. Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002. Birth defects research. Part A, Clinical and molecular teratology 2008;82 (6):435-40.

5. Pilu G, Falco P, Perolo A, Sandri F, Cocchi G, Ancora G, et al. Differential diagnosis and outcome of fetal intracranial hypoechoic lesions: report of 21 cases. Ultrasound in obstetrics & gynecology: the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology 1997;9(4):229-36.

6. Malheiros JA, Trivelato FP, Oliveira MM, Gusmão S, Coch- rane DD, Steinbok P. Endoscopic choroid plexus cauterization versus ventriculoperitoneal shunt for hydranencephaly and near hydranencephaly: a prospective study. Neurosurgery 2010; 66(3):459-64.

7. Govaert P. Prenatal stroke. Seminars in Fetal and Neonatal Medicine 2009;14(5):250-66.

8. Hino-Fukuyo N, Togashi N, Takahashi R, Saito J, Inui T, Endo W, et al. Neuroepidemiology of Porencephaly, Schizen- cephaly, and Hydranencephaly in Miyagi Prefecture, Japan. Pediatric Neurology 2016;54:42.e1.