Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review
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(2020) 20:688
CASE REPORT
Open Access
Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review Takahiro Omoto1,2, Toshifumi Takahashi3* , Keiya Fujimori2 and Shogo Kin1
Abstract Background: The prenatal diagnosis of microhydranencephaly is important and needs to be distinguished from anencephaly, because unlike anencephaly, fetuses with microhydranencephaly can survive after birth. Herein, we report a case of microhydranencephaly that was diagnosed and distinguished from anencephaly prenatally. Case presentation: The patient was an 18-year-old woman, 2 gravida nullipara, who presented at 15 weeks of gestation. Ultrasonography showed a normal biparietal diameter (BPD) and no major anomalies. At 23 weeks of gestation, an ultrasound examination revealed a BPD of 40 mm (-5.3 standard deviation, SD). At 29 weeks, anencephaly was suspected despite difficulty in visually examining the fetal head above the orbit. At 34 weeks, insertion of a metreurynter made it possible to observe the skull. Three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of the fetal skull, a prominent occipital bone, sloping forehead, marked microcephaly, cerebral loss, and excess cerebrospinal fluid. This allowed differentiation between microhydranencephaly and anencephaly. She delivered vaginally at 37 weeks, and the child had a birth weight of 2342 g and a head circumference of 24 cm (-5.4 SD). The baby’s head was flat above the forehead, with a suspected partial head defect. The baby received desmopressin acetate due to central diabetes insipidus 6 months after birth. Conclusions: The use of multiple imaging modalities and physical manipulation of the fetal head are required to accurately differentiate between microhydranencephaly and anencephaly. Keywords: Microhydranencephaly, Anencephaly, Prenatal diagnosis, Microcephalus, Hydrocephalus
Background Microhydranencephaly is a malformation in which all or most of the cerebral hemispheres are replaced by membranous structures filled with cerebrospinal fluid, accompanied by microcephaly [1–3]. Microhydranencephaly manifests as severe mental retardation and easy spasticity due to the hypoplastic brain. It is distinguished from anencephaly by the presence of a normal skull and meninges [3, 4]. However, unlike anencephaly, patients with microhydranencephaly can survive with severe disability; * Correspondence: [email protected] 3 Fukushima Medical Center for Children and Women, Fukushima Medical University, 1 Hikarigaoka, 960-1295 Fukushima City, Japan Full list of author information is available at the end of the article
therefore, prenatal diagnosis is important for delivery and postnatal management [5]. However, there have been few reports regarding prenatal diagnosis of microhydranencephaly [3, 6]. We report a case of prenatally diagnosed microhydranencephaly, which was difficult to distinguish from anencephaly, and reviewed the current literature.
Case presentation The patient was an 18-year-old woman, 2 gravid
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