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Published on: May 16, 2015
Iniencephaly and long-term survival: a rare case report
Murat Hamit Aytar1, Fikret Doğulu, Berker Cemil
1Faculty of Medicine, Department of Neurosurgery, Gazi University, Ankara, Turkey. mhaytar@gazi.edu.tr
Summary
Iniencephaly, a rare neural tube defect, typically has a poor prognosis. However, this case highlights a potential mild form with a 2-year-old survivor.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Neurology
Background:
- Iniencephaly is a rare congenital neural tube defect characterized by occiput and inion abnormalities, cervical and thoracic rachischisis, and extreme retroflexion of the head.
- This condition has a prevalence of 0.1-10 per 10,000 births and is often associated with other severe fetal abnormalities.
- The prognosis for iniencephaly is generally considered dismal, with most affected infants being stillborn or dying shortly after birth.
Observation:
- This report details a unique case of a patient exhibiting signs and findings consistent with iniencephaly.
- Unlike typical presentations, this patient has survived to the age of 2 years.
- The patient's prolonged survival suggests a potentially milder spectrum of the condition than previously documented.
Findings:
- The patient presents with clinical features indicative of iniencephaly.
- The survival of the patient beyond the neonatal period is a significant deviation from the established prognosis.
- This case challenges the universally grim outlook associated with iniencephaly.
Implications:
- This case suggests that iniencephaly may exist in a milder form, allowing for long-term survival.
- Further research into the genetic and environmental factors influencing the severity of iniencephaly is warranted.
- Understanding milder forms could lead to improved diagnostic approaches and potential management strategies for affected newborns.