home : about us : ahead of print : current issue : archives search instructions : subscriptionLogin 
Users online: 27      Small font sizeDefault font sizeIncrease font size Print this page Email this page

Previous Article  Table of Contents  Next Article  
Ahead of print publication

Severe hydrocephalus in an infant with Ellis–van creveld syndrome: A rare entity

 Department of Neuroanesthesia and Neurocritical Care, National Institute of Mental Health and Neurosciences (NIMHANS), Bengaluru 560029, Karnataka, India

Date of Submission20-May-2022
Date of Decision09-Jul-2022
Date of Acceptance15-Sep-2022
Date of Web Publication30-Jan-2023

Correspondence Address:
Balaji Vaithialingam,
Second Floor, Skandha Nivas, Second Cross End, Gundappa Gowda Gardens, Ejipura Main Road, Viveknagar, Bengaluru 560047, Karnataka
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jpn.JPN_79_22



Ellis–van Creveld (EVC) syndrome is an autosomal recessive condition due to mutation in EVC 1 and EVC 2 genes. The authors report the anesthetic management of EVC syndrome with raised intracranial pressure with concomitant congenital heart disease for emergency cerebrospinal diversion procedure.

Keywords: Anesthesia, congenital, Ellis, van Creveld syndrome, heart defects, hydrocephalus

How to cite this URL:
Kumar SP, Vaithialingam B. Severe hydrocephalus in an infant with Ellis–van creveld syndrome: A rare entity. J Pediatr Neurosci [Epub ahead of print] [cited 2023 May 29]. Available from: https://www.pediatricneurosciences.com/preprintarticle.asp?id=368816

   Introduction Top

Ellis–van Creveld (EVC) syndrome is a rare genetic condition that is characterized by ectodermal dysplasia, dental malocclusion, polydactyly, dwarfism, heart defects, and other system involvement.[1] EVC has a reported incidence of 7/1,000,000 in the general population.[2] The conduct of anesthesia and surgery for patient populations presenting with EVC can be challenging due to multisystem organ involvement. We report the anesthetic management of a rare case of EVC in an infant presenting with severe hydrocephalus for the emergency neurosurgical procedure.

   Case Report Top

An 8-month-old infant weighing 5 kg was brought to the emergency department with complaints of vomiting and progressive head enlargement since birth. The infant was diagnosed with EVC syndrome after birth based on genomic testing and associated congenital anomalies. Macrocephaly [Figure 1A] with a head circumference of 65 cm and tense anterior fontanelle suggestive of raised intracranial pressure (ICP) were noted. A further clinical examination revealed polydactyly and macroglossia characteristic of the EVC syndrome. An emergent non-contrast computed tomography of the head showed dilated lateral ventricles with an Evans ratio of 0.7, suggesting severe hydrocephalus [Figure 1B]. A screening transthoracic echocardiography revealed a large ostium primum atrial septal defect with a left-to-right shunt, restrictive inlet ventricular septal defect, dilated right atrium and ventricle, and mild mitral regurgitation. No features of right heart failure were noted on physical examination. Considering raised ICP due to hydrocephalus, an emergent ventriculoperitoneal shunt procedure was planned under general anesthesia. Pre-operative chest X-ray and blood investigations were unremarkable. A baseline oxygen saturation (SpO2) of 88–90% was noted with normal lungs on auscultation. Intravenous access was secured under sevoflurane induction, and tracheal intubation was performed under sevoflurane (MAC1.2) without the administration of a muscle relaxant considering a difficult airway. After successful tracheal intubation with a 4.5 uncuffed PVC endotracheal tube, the infant was paralyzed with 5 mg of intravenous atracurium. Radial arterial access was obtained for beat-to-beat pressure monitoring, and fluid was administered based on the systolic pressure variation. Intra-operative anesthesia was maintained with air, oxygen, and sevoflurane (MAC 1), and analgesia was provided with 20 mcg of intravenous fentanyl as a single bolus. The lungs were ventilated with pressure control mode to attain a tidal volume of 10 mL/kg without the application of positive end-expiratory pressure (PEEP). A SpO2 of >90% was maintained with an inspired oxygen concentration (FiO2) of 50%. Transient drops in SpO2 <80% were noted during the conduct of tunneling and burr hole. The neuromuscular blockade was reversed with intravenous neostigmine (50 mcg/kg) along with intravenous atropine (20 mcg/kg). The trachea was successfully extubated with an active cry following an uneventful surgical course. The post-operative cerebrospinal fluid (CSF) examination showed a normal glucose and protein level. The absence of CSF leucocytosis and CSF red blood cells were pointing toward a non-communicating pathology leading to obstructive hydrocephalus. The post-operative course was uneventful, and the infant was discharged and referred to the outside hospital after a period of 6 h. The parents were also counseled for further workup as the etiology of hydrocephalus was unknown.
Figure 1: A—Infant with macrocephaly due to hydrocephalus. B—Computed tomography of the brain showing dilated lateral ventricles

Click here to view

   Discussion Top

Central nervous system manifestation is rare in EVC syndrome. The coexistence of Dandy–Walker malformation and craniosynostosis with EVC syndrome has already been reported in the western population.[3],[4] EVC syndrome needs multidisciplinary involvement before an elective procedure, and it may not be feasible during an emergency neurosurgical condition. The presence of a large head and congenital heart defects with a left-to-right shunt in EVC syndrome can be challenging to the anesthesiologist. EVC syndrome can also be associated with thoracic dystrophy that can pose ventilatory challenges during the intra-operative period.[5] Considering a difficult airway with hydrocephalus, tracheal intubation under deep sevoflurane induction without muscle relaxant can be performed without a significant raise in ICP. A delicate balance between pulmonary vascular resistance and systemic vascular resistance is imperative under general anesthesia to maintain cardiorespiratory stability and cerebral perfusion. Avoiding hypoxia, hypercarbia, raised airway pressures, hypothermia, and nociception are crucial to prevent cardiac shunt reversal, leading to severe hypoxemia during the intra-operative period. Transient drops in SpO2 that were noted during the conduct of tunneling and burr hole which was encountered in our case could most probably be attributed to the reversal of left-to-right shunt because of sympathetic stimulation. The application of PEEP can increase ICP, aggravate right heart failure, and cause cardiac shunt reversal leading to detrimental effects. Intra-operative fluid management based on the dynamic parameters of fluid responsiveness can aid in optimal fluid administration in the presence of cardiac failure. From the neurosurgical aspect, an adequate depth of anesthesia and analgesia is necessary during the conduct of burr holes and tunneling to prevent patient movement and transient reversal of left-to-right cardiac shunt due to painful stimuli. Sudden decompression for hydrocephalus can manifest with transient bradycardia and intracranial bleed that can complicate the post-operative course.

   Conclusion Top

The presence of severe hydrocephalus can be a rare manifestation of EVC syndrome. As many of these cases present for CSF diversion procedure on an emergency basis, it is imperative for the anesthesiologist to be prepared to manage a difficult airway and complex congenital heart disease perioperatively in these patient populations.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Baujat G, Le Merrer M. Ellis–van Creveld syndrome. Orphanet J Rare Dis 2007;2:27.  Back to cited text no. 1
Veena KM, Jagadishchandra H, Rao PK, Chatra L. Ellis–van Creveld syndrome in an Indian child: A case report. Imaging Sci Dent 2011;41:167-70.  Back to cited text no. 2
Zangwill KM, Boal DK, Ladda RL. Dandy–Walker malformation in Ellis–van Creveld syndrome. Am J Med Genet 1988;31:123-9.  Back to cited text no. 3
Fischer AS, Weathers WM, Wolfswinkel EM, Bollo RJ, Hollier LH Jr, Buchanan EP. Ellis–van Creveld syndrome with sagittal craniosynostosis. Craniomaxillofac Trauma Reconstr 2015;8:132-5.  Back to cited text no. 4
Flanders TM, Franco AJ, Lott C, Anari JB, Cahill PJ, Storm PB, et al. Prophylactic decompression for cervical stenosis in Jeune syndrome: Report from a single institution. Spine (Phila Pa 1976) 2020;45:E781-6.  Back to cited text no. 5


  [Figure 1]


Previous Article   Next Article


   Ahead of print
     Search Pubmed for
    -  Kumar SP
    -  Vaithialingam B

   Case Report
    Article Figures

 Article Access Statistics
    PDF Downloaded6    

Recommend this journal