Perioperative Anesthetic Management in Preterm 12 Days Infants with Giant Meningoencephalocele at Mid Occipital and Secondary Trigonocephaly

Introduction: A meningoencephalocele is herniation of neural element along with meninges through a congenital defect in cranium. The incidence of encephalocele is approximately 1/5000 live births; occipital encephalocele is more common in females than males. It is called as giant meningoencephalocele when the head is smaller than the meningoencephalocele. These giant meningoencephaloceles harbor a large amount of cerebrospinal fluid (CSF) and brain tissue, so there occur various surgical challenges and anesthetic challenges in positioning and intubation. Case: A 12 days neonate was consulted to the neurosurgery department with complaints of large swelling over the back of head and difficulty in feeding. She was diagnosed with ventriculomegaly and meningoencephalocele since 32-33 pregnancy. The swelling was small at the time of birth, but it gradually increased in size. The child was born by section caesarean because of fetal distress and meningoenchepalocele. The neonate current weight was 3.195 grams with Post Conceptional Age (PCA) 35-36 weeks. On examination, the patient large spherical swelling was present over occipital region and there was no head control. The patient was active, conscious with no impression of focal neurological deficit. Systemic examination was unremarkable. The head circumference was 30 cm and circumference of occipital swelling was 40 cm. Potential problems in this patient include preoperative preparation and optimization of general condition, difficulty in positioning the patient, difficult airway (intubation), periodic apnea and potential hemodynamic disturbances and a sudden decrease in intracranial pressure during cele resection. Conclusion: Perioperative management in this case started from preoperative to postoperative evaluation. Preoperative preparation in anticipation of airway difficulties and communication with the operator is very important. Appropriate anesthetic techniques should aim to maintain stable hemodynamics and oxygenation and prevent a sudden increase or decrease in intracranial pressure.

Fetal Occipital Encephalocele: A Case Report

Encephaloceles are considered neural tube defects, but their exact cause is unknown. The outcome is dismal, and essential management and counseling are needed for patients. Two-dimensional and three-dimensional sonography can be used to detect encephaloceles as early as 11 weeks, assist in treatment planning, and improve patient care. This case report presents an occipital encephalocele diagnosed by sonography and followed until delivery.

Giant occipital encephalocele: a case report, surgical and anesthetic challenge and review of literature

Background An encephalocele is a congenital neural tube defect characterized by herniation of cranial contents through a defect in the cranium and is caused by failure of the closure of the cranial part of the developing neural tube. An encephalocele is termed as “giant encephalocele” when the size of encephalocele is larger than the size of the head. They depend on size of the sac, percentage of neural tissue content, hydrocephalus, infection, and other associated pathologies for a favorable neurological outcome. Case presentation We report a case of a four-month-old boy with a giant occipital encephalocele measuring 21 × 15 × 19 cm in size, which was a surgical and anesthetic challenge for us. Intubation was achieved in lateral position. Part of occipital and cerebellar parenchyma was present in the sac and bony defect was approximately 2.5 cm in occipital bone in midline. We performed surgical excision and repair with a good overall outcome. Conclusion Perioperative management of a giant occipital encephalocele is a challenge for both anesthesiologists and neurosurgeons. Managing such a case demands a search for other congenital abnormalities, expertise in handling airway, and proper intraoperative care. Careful planning and perioperative management are essential for a successful outcome.

A case of prenatal diagnosis of meckel-gruber syndrome in one of the dizygotic twin of a naturally conceived pregnancy

Meckel-Gruber syndrome in one twin of a naturally conceived dizygotic twin pregnancy is largely unknown and has not been reported till date. This report illustrates the sonographic features in a case of 20-week twin pregnancy where one twin had an occipital encephalocele, bilateral enlarged and cystic kidneys, hepatic cyst and oligohydramnios but the other twin was normal. The affected twin succumbed within few days after normal vaginal delivery while the normal twin survived and is healthy.

Perioperative Anesthetic Management in Preterm 12 Days Infants with Giant Meningoencephalocele at Mid Occipital and Secondary Trigonocephaly

Introduction: A meningoencephalocele is herniation of neural element along with meninges through a congenital defect in cranium. The incidence of encephalocele is approximately 1/5000 live births; occipital encephalocele is more common in females than males. It is called as giant meningoencephalocele when the head is smaller than the meningoencephalocele. These giant meningoencephaloceles harbor a large amount of cerebrospinal fluid (CSF) and brain tissue, so there occur various surgical challenges and anesthetic challenges in positioning and intubation. Case: A 12 days neonate was consulted to the neurosurgery department with complaints of large swelling over the back of head and difficulty in feeding. She was diagnosed with ventriculomegaly and meningoencephalocele since 32-33 pregnancy. The swelling was small at the time of birth, but it gradually increased in size. The child was born by section caesarean because of fetal distress and meningoenchepalocele. The neonate current weight was 3.195 grams with Post Conceptional Age (PCA) 35-36 weeks. On examination, the patient large spherical swelling was present over occipital region and there was no head control. The patient was active, conscious with no impression of focal neurological deficit. Systemic examination was unremarkable. The head circumference was 30 cm and circumference of occipital swelling was 40 cm. Potential problems in this patient include preoperative preparation and optimization of general condition, difficulty in positioning the patient, difficult airway (intubation), periodic apnea and potential hemodynamic disturbances and a sudden decrease in intracranial pressure during cele resection. Conclusion: Perioperative management in this case started from preoperative to postoperative evaluation. Preoperative preparation in anticipation of airway difficulties and communication with the operator is very important. Appropriate anesthetic techniques should aim to maintain stable hemodynamics and oxygenation and prevent a sudden increase or decrease in intracranial pressure.

Molecular Diagnosis and Prenatal Phenotype Analysis of Eight Fetuses With Ciliopathies

Human ciliopathies are hereditary conditions caused by variants in ciliary-associated genes. Ciliopathies are often characterized by multiple system defects. However, it is not easy to make a definite diagnosis in the prenatal period only based on the imageology. In this report, eight new prenatal cases from five unrelated families diagnosed with ciliopathies were systematically examined. The clinical manifestations of these fetuses showed such prenatal diagnostic features as occipital encephalocele, and polydactyly and polycystic kidneys. Situs inversus caused by CPLANE1 variant was first reported. In Family 1 and Family 3, homozygous variants of CPLANE1 and NPHP4 caused by consanguineous marriage and uniparental disomy were detected by whole-exome sequencing, respectively. In Family 2, Family 4 and Family 5, compound heterozygotes of TMEM67 and DYNC2H1 including two novel missense variants and one novel nonsense variant were identified. The distribution of pathogenic missense variants along TMEM67 gene mainly clustered in the extracellular cysteine rich region, extracellular area with unknown structure, and the transmembrane regions. Genotype-phenotype relationship between CPLANE1 and TMEM67 genes was concluded. This report describes new clinical manifestations and novel variants in CPLANE1, TMEM67, NPHP4, and DYNC2H1.

A study on clinical analysis and surgical outcomes of occipital encephalocele in children

Background: Occipital encephalocele is the commonest of encephalocele involving protrusion of meningeal and neural structures through the occipital bone defects. It is a congenital anomaly with varied presentation and can include only meninges to the cerebellum, medulla, venous sinus and brainstem structure.Methods: Study was done at civil hospital Ahmedabad from January 2017 to January 2020 occipital encephalocele patients were operated at the department of neurosurgery. The patients were evaluated by computed tomography scan of the brain, magnetic resonance imaging and ultrasound. The operated cases were reviewed and relevant data such as age, sex, location of encephalocele, the size of the lesion, operative method, seizure and hydrocephalus along with postoperative complications were recorded for analysis.Results: In our study, we have better results in contrast to literature may be due to absence of hydrocephalus, other anomalies of brain, seizure disorder and lack of functional brain tissue within the sac as these factors has been associated with poor neurological outcome. Out of 35 operated, 2 patients expired of which 1 patient had other complication at presentation and other one had had developed cerebrospinal fluid (CSF) leakage with ventriculitis.Conclusions: Repair of encephaloceles should be ideally done in the postnatal period to minimize risks of ulceration and trauma to the lesion with subsequent meningitis. We can conclude that folic acid supplementation should be strongly emphasized in health centres to reduce these neural tube defects as none of the patients in our study has taken.

SYNDROME DE MECKEL GRUBER: A PROPOS DUN CAS RARE

Meckel-Gruber syndrome is a monogenic congenital disorder characterized by occipital encephalocele, polydactyly, and polycystic kidneys. This syndrome is incompatible with life. We report a case diagnosed on fetal ultrasound at a gestational age of 22 SA and 6 days, presenting the clinical triad of Meckel-Gruber syndrome. A medical termination of the pregnancy was indicated. From this rare case, and through a review of the literature, we will discuss the different clinical, ultrasound and prognostic aspects of this rare pathology.

Surgical Management and Early Outcome of Encephalocele

Background: There are limited studies pertaining to management of encephalocele in Nepal. So the present study seems justifiable to bridge the gap in the literature on encephalocele from Nepal on its clinical profile and early outcome. This study aims to characterize the clinical profile, management and outcome of largest series of encephalocele at tertiary care center in Nepal. Materials and Methods: A retrospective analysis of encephalocele, managed surgically at two tertiary care centers between 2015 and 2020, was performed. Results: Total of 25 cases was surgically managed in the present study. The median age of study population was 2.5 months. There were 11 male and 14 female with male to female ratio of 1:1.26. Occipital encephalocele was the most common variant. Lump in the head (n=11) was the commonest clinical presentation followed by hyperteliorism (n=10). One patient presented with cleft lip and one had CSF discharge in a case of occipital encephalocele. Bony defect was the common radiological findings. Excision and repair was the most common mode of surgery leading to good outcome. Mortality rate was 4% with morbidity of 20%. Conclusion: Early surgical excision and tight dural closure with repair of bony defect is the standard treatment with relatively good outcome.