Anaesthetic management of a child with suspected Opitz–Kaveggia syndrome
Year: 2024
Type: article
Abstract: Dear Editor, Opitz–Kaveggia syndrome was identified by Opitz and Kaveggia in 1974 in a family of five affected male members.[1] This syndrome is characterised by facial dysmorphism, relative macrocephaly, broad and flat thumbs, hypotonia, moderate to severe mental retardation and anomalies of the genitourinary tract. Although it is usually associated with mutations in the MED12 gene, mutations in the calcium/calmodulin-dependent serine protein kinase (CASK) gene may also manifest as Opitz–Kaveggia syndrome.[2] We describe the anaesthetic management of a child with suspected Opitz–Kaveggia syndrome with a CASK gene mutation scheduled for bilateral orchidopexy. An 11-year-old male child, 156 cm tall and weighing 56 kg, presented to us for a pre-anaesthetic evaluation for bilateral orchidopexy for bilateral cryptorchidism. He was delivered by a caesarean section because of breech presentation. At birth, the cry was delayed, for which the child was tracheally intubated and mechanically ventilated for 48 h. There was also a history of seizures for the past 3–4 months, for which he had been started on oral levetiracetam 500 mg twice a day. On examination, the child had facial dysmorphism, plagiocephaly, macrotia, large thumbs, contracture of the left elbow and bilateral congenital talipes equinovarus [Figure 1]. Deep tendon reflexes were exaggerated on the left side. Baseline electrocardiogram showed sinus bradycardia. 2D echocardiography was normal. Magnetic resonance imaging of the brain showed cystic encephalomalacia changes with ex-vacuo dilatation of the right lateral ventricle in the right parieto-occipital lobe and atrophy of the right thalamus. Taking into consideration the history of recent seizures and the presence of possible underlying muscular dystrophy, we decided to use total intravenous anaesthesia (TIVA) along with neuromuscular transmission (NMT) monitoring intraoperatively.Figure 1: Child with macrotia and facial dysmorphism with a CASK gene mutation. CASK = calcium/calmodulin-dependent serine protein kinaseOn the morning of the surgery, aspiration prophylaxis was administered with intravenous (IV) metoclopramide 10 mg and pantoprazole 40 mg. In the operating room, standard American Society of Anesthesiologists monitors were applied along with NMT and entropy. Anaesthesia was induced with IV midazolam 1 mg, fentanyl 100 µg and propofol 100 mg. Following calibration of the NMT monitor, IV rocuronium 30 mg was administered. The airway was secured with a size 3 I-gel supraglottic airway device (SGAD) at the train-of-four count of 0. Anaesthesia was maintained with an infusion of propofol, titrated to response and state entropy values between 40 and 60, with a fresh gas mixture of air and oxygen in a 50:50 ratio. Analgesia was supplemented with an additional IV fentanyl 100 µg and paracetamol 500 mg intraoperatively. At the end of the surgery, a bilateral ultrasound-guided transversus abdominis plane block was administered with 15 ml of 0.25% bupivacaine on each side. Antiemetics were administered, and the neuromuscular blockade was reversed with sugammadex 2 mg/kg. The SGAD was removed when the patient was completely awake. The postoperative course was uneventful, and the patient was discharged after 48 h. We could find only two previous reports on the anaesthetic management of Opitz–Kaveggia syndrome, where inhalational anaesthetics were used intraoperatively.[3,4] These reports were published over a decade ago when TIVA was presumably not widely practised. Our concerns about intraoperative seizures, the possibility of underlying muscular dystrophy and the presence of developmental delay prompted us to use TIVA along with NMT and depth of anaesthesia monitoring. A multimodal analgesic plan also facilitated smooth recovery. Declaration of patient consent The authors certify that they have obtained all appropriate patient consent forms. Written informed consent was obtained from the parents, and assent was obtained from the patient for using images and other clinical information to be reported in the journal. They understand that the child’s name and initials will not be published and due efforts will be made to conceal his identity, but anonymity cannot be guaranteed. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Source: Indian Journal of Anaesthesia
Authors: Ankita Dey, Anju Grewal, Manisha Patlan
Institution: All India Institute of Medical Sciences
Language: English
Subfield: Anesthesiology and Pain Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4402536032