Closed iniencephaly

Closed iniencephaly is a rare and severe neural tube defect characterized by a defect in the occipital bone (the bone at the back of the skull) with extreme retroflexion (backward bending) of the spine, resulting in the face looking upward and the skin of the face being continuous with the chest. Unlike open iniencephaly, the closed form does not have an associated encephalocele (protrusion of brain tissue through the skull defect), and the skin covering remains intact over the defect. Iniencephaly belongs to the spectrum of neural tube closure defects and primarily affects the central nervous system and musculoskeletal system. Key clinical features include a markedly shortened and deformed spine due to severe lordosis and defects in the cervical and thoracic vertebrae, an enlarged and malformed skull, and a very short neck or apparent absence of the neck. The condition is frequently associated with other congenital anomalies, including diaphragmatic hernia, cardiovascular malformations, gastrointestinal anomalies, and genitourinary defects. Iniencephaly occurs predominantly in females. Most cases are diagnosed prenatally through ultrasound examination, which reveals the characteristic fixed retroflexion of the fetal head and spinal abnormalities. Closed iniencephaly is almost invariably lethal, with the vast majority of affected infants being stillborn or dying shortly after birth. There is no curative treatment available. Management is primarily supportive and involves prenatal counseling for affected families. Folic acid supplementation before and during early pregnancy is recommended as a general preventive measure for neural tube defects, though its specific efficacy in preventing iniencephaly has not been definitively established. The etiology is considered multifactorial, involving both genetic susceptibility and environmental factors.

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