Abstract
Wolf-Hirschhorn syndrome is a rare disease and may cause difficulties in airway management. In addition, intraoperative complications may occur. We will share with you our anesthesia management experience in a patient who is scheduled to undergo repair due to a cleft lip.
Introduction
Wolf-Hirschhorn syndrome (WHS) (-) is characterized by 4p deletion and is characterized by pre- and postnatal growth retardation, cognitive dysfunction, epilepsy, and typical craniofacial components such as nasal hypertelorism, microcephaly, high forehead with prominent glabella, ocular hypertelorism, epicanthus, high arched eyebrows, short philtrum, downturned “fish like”, micrognathia and underdeveloped ears. Prominent forehead, hypertelorism, and broad nasal bridge continuing toward the forehead caused the term “Greek warrior helmet appearance”. This syndrome was first described by Hirschhorn and Cooper (1) in 1961. A second case was described by Wolf et al. (2). There is a 2:1 female:male ratio, with a frequency of 1:50,000-1:20,000 births. Various factors play a role in growth delay, including oral facial clefts, difficulty in sucking, poorly coordinated swallowing resulting in aspiration, and gastroesophageal (3, 4). WHS is associated with a high mortality rate of approximately 30% in the first 2 years of life, and the most common causes of death are lower respiratory tract infections and congenital heart disease/heart failure (5). In this article, we will present a case of WHS who was operated for cleft palate.
Case Presentation
A cleft palate operation was planned for our patient who weighed 13 kg and 93 cm when she was 4 years and 39 weeks old. We obtained consent form from her family. Our patient with intrauterine growth retardation was followed up in the neonatal intensive care unit for 2.5 months without being intubated after she was born via cesarean section at 34 weeks and weighed 1300 gr. There was no consanguinity in her family history. Our patient was diagnosed with WHS when she was 5 months old. When she was diagnosed, ventricular septal defects (VSD), atrial septal defects (ASD), hypotonia, and epilepsy were present. The patient complained of frequent vomiting and had a history of intensive care hospitalization once due to aspiration pneumonia. The drugs she used were levetiracetam and growth hormone. There was only cleft lip surgery as in the previous operation. Hypertolerism and coarseness of breath sounds were the physical examination findings (Figures 1 and 2). In the last cardiology examination, ASD and VSD were closed. In the preoperative blood examination, potassium was 5.2 mmol/L, calcium: 11.3 mg/dL, phosphorus: 4.6 mg/dL, and the remaining electrolytes were normal. The vitamin D level was 31.17 ng/mL. In the thyroid function test, T4 and TSH were normal and only T3 was 7.8 pmol/L (upper limit 6.8). There were no abnormalities in hemoglobin, platelet, and bleeding parameters.
Solid food intake was stopped 8 h before the surgery, and liquid food intake was stopped with levetiracetam 4 h before the surgery. When she came to the operating room, the American Society of Anesthesiologists recommended monitoring was performed. Due to severe preoperative anxiety and inability to remain still, it was not possible to insert an intravenous line before induction. Therefore, inhalational induction with sevoflurane was preferred in order to avoid further distress and facilitate IV access in a controlled manner. The patient was induced with 1-8% sevoflurane. A nasogastric tube was inserted immediately after induction. One 24G and one 22G IV catheter were opened. The patient was started with 0.9% isotonic and 1/3 dextrose as fluid, and hourly blood glucose monitoring was planned. The patient was administered 5 mg ketamine, 5 mg fentanyl, and 5 mg lidocaine, followed by 60 mg propofol. Nasal intubation was performed using a 3.5-cuffed tube with a videolaryngoscope. The temperature probe was placed on the left axilla. Anesthesia was maintained with sevoflurane with MAC of 0.7. The patient whose hourly maintenance fluid was 130 mL became hypotensive at the minute 160 of the operation. Fluid boluses of 10 mL per kilo were administered three times. After fluid responsiveness, adrenaline infusion of 0.02 mcg/kg/min was initiated. Sevoflurane was turned off at minute 196. The patient was extubated at the minute 216. The patient was admitted to the postoperative care unit for 40 min. She was discharged on the day 3 after the operation.
Discussion
Airway evaluation is important during preoperative evaluation. Due to the developmental delay of the patient, a smaller endotracheal tube may be required than that used in the normal age group in addition to difficult airway preparation (5, 6). At this stage, the tracheal diameter at the c6 level is important (7). Heart defects reported in 50% of children with WHS are generally uncomplicated and are characterized by atrial and VSD, pulmonary stenosis, and patent ductus arteriosus associated with aortic regurgitation (3). Preoperative electrocardiogram and echocardiography should be performed in variants containing congenital heart disease (7).
On the day of surgery, patients should be administered antiepileptics (8). At this stage, the plasma concentration of many drugs will decrease because of drugs that increase liver enzyme activity, such as carbamazepine, phenobarbital, and phenytoin; if valproate is used, the metabolism of most drugs will be slowed down because of the inhibition of microsomal hepatic enzymes (9). If the patient is taking valproate for seizures, bleeding parameters and platelet function should be evaluated (10).
Antibody deficiencies have been reported in 69% of children with WHS (3). If the patient also has Ig-A deficiency, the patient may have an allergic or anaphylactic reaction to transfusions (11).
Although there is no obstacle in induction with inhalation, there is a risk of aspiration because gastroesophageal reflux may occur in this patient group (12).
If a patient with WHS develops fever during and after anesthesia, anesthetists should also consider malignant hyperthermia and other causes. Various unusual conditions during anesthesia may resemble malignant hyperthermia. These include iatrogenic overheating, infection, transfusion reaction, central nervous system dysfunction, allergic reactions, pheochromocytoma, thyrotoxicosis, drug-induced hyperthermia (tricyclic antidepressants, monoamine oxidase inhibitors, anticholinergics, amphetamines, etc.), machine valve malfunction, and rebreathing. The presence of a high temperature in the patient immediately after surgery may be associated with conditions such as sepsis or drug reaction, and this requires appropriate investigation. During this process, the risk of febrile convulsions due to hyperthermia should be avoided. Therefore, the patient should be provided with normothermia (6).
Malignant hyperthermia related to this syndrome has been observed in two cases till date (13, 14), and one of them developed postoperatively (14). Generalized hypotonia, a feature of WHS, is usually associated with muscle hypotrophy of the lower legs (3). Doses of neuromuscular blocking agents should be titrated when the patient presents with generalized hypotonia (8). In addition to these, no relationship was found between malignant hyperthermia and WHS (ryanodine receptors are not genetically affected) (12-16).