Iniencephaly and long-term survival: a rare case report

Aytar, Murat Hamit; Doğulu, Fikret; Cemil, Berker; Ergun, Ertan; Kurt, Gökhan; Baykaner, Kemali

doi:10.1007/s00381-007-0309-6

Cited by 24 publications

(26 citation statements)

References 8 publications

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“…Prognostication and management are based largely on case series suggesting that nearly all affected infants die shortly after birth. [6][7][8][9][10][11][12][13][14][15][16] However, reports of occasional long-term survivors [21][22][23][24] and of decreased mortality with intensive care 25,26 raise questions about the use of the term 'lethal' in this context. Especially, as parents access available knowledge, policies that limit medical treatment are being questioned.…”

Section: Discussionmentioning

confidence: 99%

Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal

2010

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Objectives: The objectives of this study were (1) to compare age at death and the intensity and cost of medical treatment for infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal.(2) To determine whether greater treatment intensity is associated with longer life.Study Design: This is a retrospective cohort study of all fetuses and neonates with congenital anomalies classified as lethal who were diagnosed or treated at the University of North Carolina Hospitals from January 1998 to December 2003. Result:The cohort consisted of 192 fetuses and infants: 160 were diagnosed prenatally, 2 were diagnosed perinatally, and 30 were diagnosed postnatally. In all, 115 (72%) pregnancies were terminated. Of the liveborn infants, 75% died before 10 days of age and 90% before 4 months of age. Compared with postnatally diagnosed infants, prenatally diagnosed infants received less intense treatment (median average daily Neonatal Therapeutic Intervention Scoring System score 8.3 versus 14.0; P ¼ 0.02), at less cost (median direct cost of hospitalization $1550 versus $8474; P ¼ 0.03) and died sooner (median age at death <1 day versus 4 days; P ¼ 0.01). Greater treatment intensity did not correlate with longer survival (r ¼ À0.04; P ¼ 0.66). Conclusion:Although some kinds of medical therapy may be appropriate for newborns with lethal congenital anomalies, highly aggressive interventions did not prolong survival and should not be offered. Even when pregnancy termination is not elected, infants diagnosed prenatally receive less intense care.

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Section: Discussionmentioning

confidence: 99%

Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal

2010

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“…Iniencephaly has an incidence rate estimated at 0.1 to 10 in 10,000 deliveries. For unknown reasons, this disease seems to occur mostly in newborn females (about 90%) 3 .…”

Section: Discussionmentioning

confidence: 99%

Iniencephaly

Sodhi

Chhabra

2017

Sri Lanka J Child Health

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“…There are many CNS anomalies associated with iniencephaly, such as microcephaly, polymicrogyria, holoprosencephaly, atresia of the ventricular system, vermis agenesis, cerebellar cyst, encephalocele and cyclopia [2,3,4,5,6,8]. …”

Section: Discussionmentioning

confidence: 99%

“…According to our knowledge, to date only 7 surviving patients with iniencephaly have been reported [1,2,3,4,5,6,7,8]. …”

Section: Introductionmentioning

confidence: 99%

Iniencephaly: Clinical, Radiological and Surgical Findings

et al. 2010

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The authors report a case of iniencephaly in a 6-year-old boy with a huge occipital bone defect and encephalocele, extensive spina bifida of the cervical vertebrae and fixed retroflexion of the head due to Sprengel’s deformity. He presented with some cerebellar and cranial nerve symptoms and new episodes of neck pain and drop attacks. Brain imaging confirmed progressive deformity of the brain stem, cerebellar herniation into the encephalocele sac and ventriculomegaly. Surgical repair of the encephalocele was performed with preservation of all herniated cerebellar tissue and the release of thick arachnoid adhesions to make more space to return the herniated neural tissue from the sac to the cranium. The patient was found to have progressive facial palsy and intracranial hypertension 3 days after surgery, which improved with ventriculoperitoneal shunting. Iniencephaly is generally a fatal anomaly, and only 7 such patients have been reported to have survived. Because of the fatality of this anomaly, prenatal diagnosis of iniencephly and pregnancy termination are important. The patient presented herein is only the second patient with iniencephaly and encephalocele to be operated on. The severity of associated systemic and cranial abnormalities is fundamental with regard to survival. Essential points for surgery are preparing enough space to save herniated functional neural tissues, management of associated hydrocephalus and brain stem rotation/compression due to decreased postoperative space. In the surviving child, early correction of Sprengel’s deformity would provide a better aesthetic position of the neck with preservation of brachial plexus integrity.

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Iniencephaly and long-term survival: a rare case report

Cited by 24 publications

References 8 publications

Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal

Length of life and treatment intensity in infants diagnosed prenatally or postnatally with congenital anomalies considered to be lethal

Iniencephaly

Iniencephaly: Clinical, Radiological and Surgical Findings

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