Iniencephaly is an uncommon and fatal neural tube defect involving the occiput and inion, this occurs together with rachischisis of the cervical and thoracic spine, and retroflexion of the head. We report the ultrasound (US) and magnetic resonance (MR) imaging findings of a case of iniencephaly with clubfeet and arthrogryposis. The diagnosis of iniencephaly is easy to make on ultrasound due to the typical star-gazing fetus. However, the details of the fetal brain and spinal cord may not be adequately delineated on US. We found MR imaging to be superior for depicting central nervous system abnormalities. MR imaging has evolved as an imaging modality and it is complementary to fetal US, yet US remains the screening modality of choice.
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http://dx.doi.org/10.3348/kjr.2007.8.4.351 | DOI Listing |
AJP Rep
July 2024
Department of Obstetrics and Gynecology, College of Medicine and Health Sciences, Bahir Dar University, Bahir Dar, Ethiopia.
Iniencephaly is an extremely rare type of neural tube defect characterized by the fusion of the cervical and cervicothoracic vertebrae. This condition results in acute retroflexion of the head, a short neck, significant lordosis of the cervical spine, and an upturned facial appearance. This condition typically results in poor fetal outcomes, with many cases ending in stillbirth or neonatal death.
View Article and Find Full Text PDFJ Med Case Rep
December 2024
Department of Neurosurgery, School of Medicine, Hamadan University of Medical Sciences, Hamadan, Iran.
Background: Giant prolactinoma (size > 4 cm) is a rare condition and accounts for less than 1% of pituitary adenomas. In even rarer cases, these lesions may involve craniocervical structures requiring surgical intervention. The present case is the largest reported giant prolactinoma (99 × 72 × 57 mm).
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Department of Neurosurgery, Izmir Tinaztepe University, Faculty of Medicine, Izmir, Turkey.
Purpose: Tethered cord syndrome (TCS) typically presents with urologic symptoms and abnormal imaging findings. However, some patients present with normal conus medullaris level and filum terminale appearance on MRI. This research seeks to assess the intended surgical results in this particular group of TCS patients who do not present with urologic complaints, under the premise that the surgical approach goes a long way in preventing the onset of urologic abnormalities.
View Article and Find Full Text PDFInt J Dev Neurosci
February 2025
Department of Pediatric Neurology, The Affiliated Hospital of Qingdao University, Qingdao, Shandong, China.
Background: According to previous literature reports, PTPN11 gene variants account for approximately 50% of Noonan syndrome (NS) cases and 85% of Leopard syndrome (LS) cases. Several patients who were diagnosed with NS or LS complicated with Chiari I malformation (CIM) and/or syringomyelia have been reported to have a PTPN11 variant. However, it is not always clear whether the association between CIM and/or syringomyelia and PTPN11 variants is real or random.
View Article and Find Full Text PDFJ Matern Fetal Neonatal Med
December 2025
University of Cincinnati Medical College of Medicine, Cincinnati, OH, USA.
Objective: Prior clinical findings have demonstrated that maternal laparotomy with trans-amniotic trans-uterine suturing of the fetoscopic port site during in utero myelomeningocele repair reduces the risk of membrane rupture. However, due to laparotomy-associated morbidity, we aimed to explore the feasibility of using a vascular closure device for percutaneous trans-amniotic trans-uterine suturing.
Methods: This IRB and IACUC-exempt study utilized 2 strategies for proof-of-concept testing of using the Abbott Perclose ProStyle Device for suture placement; 1.
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