Two cases of Malformations of cortical development with difficulty on prenatal diagnosis

Ohtsuki Miki, Yasuda Eriko, Kawasaki Kaoru, Matsuzaka Yu, Inohaya Asako, Ueda Yusuke, Yamaguchi Ayaka, Sato Mai, Chigusa Yoshitsugu, Mogami Haruta, Kondoh Eiji, Mandai Masaki

doi:10.34456/jjspnm.58.3_538

Malformations of cortical development（MCD）are rare diseases. Patients with MCD are associated with severe clinical outcomes due to intractable epilepsy, hypotonia, and psychomotor developmental delay. Antenatal diagnosis is sometimes difficult because typical morphological features are usually observed after 30 weeks of gestational age. We herein report two cases of MCD diagnosed after birth. Case1 A 38-year-old pregnant woman was referred to our institution at 29 weeks of gestation for evaluation of fetal ventriculomegaly and small cerebellum. At 35 weeks of gestation and the postnatal age of 4 days, Magnetic resonance imaging（MRI）showed the enlarged posterior fossa, but otherwise was unremarkable. At the postnatal age of 2 months, he had feeding difficulty and MRI revealed pachygyria, resulting in the diagnosis of MCD. Case2 A 30-year-old pregnant woman visited our hospital at 27weeks of gestation because of polyhydramnios. Ultrasound examination demonstrated an AFI of 34 cm and large bladder of the fetus, showing no evidence of cranial nerve disease or intestinal atresia. Postnatal ultrasonography and MRI revealed pachygyria, reaching a diagnosis of MCD. Although antenatal diagnosis of MCD is challenging, ultrasonography focusing on the gyri and sulci contributes to prenatal diagnosis, and careful follow-up with pediatricians should be given to the newborn who has the possibility of neurological abnormalities.

Two cases of Malformations of cortical development with difficulty on prenatal diagnosis

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