Abstract
Background
Iniencephaly is a rare, complex, and severe form of neural tube defect (NTD), usually associated with wide systemic involvement and poor prognosis. The malformation involves the occiput and the inion, variably combined with rachischisis of the upper cervical and thoracic spine. Although most patients are either stillborn or perish within a few hours after birth, there are reports linking iniencephaly and long survival. For the neurosurgeon, associated encephalocele and secondary hydrocephalus represent the main challenges in this setting of patients, together with proper prenatal counseling.
Material and methods
Herein, the authors performed a thorough review of the pertinent literature, looking for reports of long-term survivors.
Results
To date, only five long-term survivors have been reported, with surgical repair attempted in four of them. Furthermore, the authors added their personal experience about two children with long-term survival who underwent surgery, thus accurately comparing them with the analogous cases previously reported in literature, with the ultimate aim of providing novel information on the pathology and the therapeutic options needed to offer proper treatment to these patients.
Conclusions
Although no distinctive anatomic differences have been prior identified between long-term survivors and other patients, some variations emerged to occur, regarding age of presentation, the extension of the CNS malformation, the systemic involvement, and the surgical procedures offered. Although the authors shed some light on the topic, further studies are warranted to better define this rare and complex disease, and survival.
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Abbreviations
- NTD:
-
Neural tube defect
- CSN:
-
Central nervous system
- C-section:
-
Cesarean section
- VPS:
-
Ventriculo-peritoneal shunt
References
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Ludovico Agostini wrote the main manuscript test.
Luca Massimi and Gianpiero Tamburrini supervised the paper and were the main surgeons for the reported patients.
Paolo Frassanito edited the photo and tables.
Federico Bianchi proposed the paper and was in charge of the editing and corrections.
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Agostini, L., Massimi, L., Tamburrini, G. et al. Iniencephaly and long-term survival: a possible association—case report and review of the literature. Childs Nerv Syst 39, 2027–2035 (2023). https://doi.org/10.1007/s00381-023-06003-1
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DOI: https://doi.org/10.1007/s00381-023-06003-1