|Year : 2023 | Volume
| Issue : 1 | Page : 43-46
Perioperative management in Rothmund–Thomson syndrome: A case report
Ahmed Uslu, Nedim Çekmen
Department of Anesthesiology, Başkent University, Faculty of Medicine, Ankara, Turkey
|Date of Submission||03-Nov-2022|
|Date of Decision||08-Dec-2022|
|Date of Acceptance||21-Dec-2022|
|Date of Web Publication||6-Mar-2023|
Department of Anesthesiology, Başkent University, Faculty of Medicine Yukari Bahçelievler Mareşal Fevzi Cakmak St. No: 45, Çankaya, Ankara 06490
Source of Support: None, Conflict of Interest: None
Rothmund-Thomson Syndrome (RTS) is a rare, multisystem disease accompanied by many anomalies that require careful attention from preoperative evaluation to discharge regarding anesthesia preparation and management. Due to craniofacial deformities accompanying facial abnormalities, maintaining the airway becomes a complete struggle with a race against time for survival. This case report presents the preoperative preparation and perioperative management, the risks that may be encountered, and the detailed preparation for a 7-year-old patient diagnosed with RTS and multiple system involvement. General anesthesia was administered to this patient, who had intrauterine growth retardation, nail streaking, redness of the bullae and legs, and a history of somatotropin treatment and antinuclear antibody (ANA) positivity under optimum conditions. Thanks to successful and detailed preoperative preparation and perioperative management, the patient was followed up and discharged without any complications. Although RTS is rare, the need for general anesthesia often arises due to juvenile cataracts, dental anomalies, syndactyly and other extremity anomalies in these patients whose airway management is complex. Furthermore, this increases the current risk in the population of these patients. Managing these patients with a multidisciplinary approach will reduce complications, morbidity, mortality, and length of stay.
Keywords: Airway, cataract, juvenile, poikiloderma, Rothmund-Thomson syndrome
|How to cite this article:|
Uslu A, Çekmen N. Perioperative management in Rothmund–Thomson syndrome: A case report. Bali J Anaesthesiol 2023;7:43-6
| Introduction|| |
Rothmund-Thomson Syndrome (RTS) is associated with a mutation in the RECQL4 gene and affects multiple systems as a rare autosomal recessive genodermatosis and is also known as congenital poikiloderma. Its clinical findings are short stature, sparse scalp hair, sparse or absent eyelashes, eyebrows, skeletal abnormalities, juvenile cataracts, radial ray defects, and premature ageing. In addition, it was stated that the frequency of various malignancies increased in these patients, the most common being osteosarcoma (OS), followed by squamous cell carcinoma. There are two clinical subtypes of RTS. RTS Type 1 (RTS1) is characterized by poikiloderma, ectodermal dysplasia, and juvenile cataracts, and RTS Type 2 (RTS2) is characterized by poikiloderma, congenital bone anomalies, high risk of osteosarcoma in children and skin cancer in the later stages. In addition, most of these children have normal mental development and intelligence.
Anesthesia and airway management are critical in these children. Due to craniofacial deformities accompanying dental abnormalities, prognathism, and limitation of mouth opening, maintaining the airway becomes a complete struggle with a race against time for survival. Also, gastrointestinal problems are frequently manifested by vomiting and diarrhea, predisposing these patients to dehydration, electrolyte imbalance, and malnutrition. Adding the duration of preoperative fasting to these factors may impair hemodynamics during induction. Herein, we aimed to present our preoperative preparation and perioperative management in a case with a difficult airway and many accompanying anomalies such as RTS.
| Case Report|| |
A 7-year-old female (15 kg, body mass index (BMI) 15 kg/m2) with keratitis and decreased vision in her right eye was planned for cataract surgery with phacoemulsification [Figure 1] and [Figure 2]. In the pre-procedural evaluation, it was learned that the patient was followed up with RTS. was She was born by cesarean section with intrauterine growth retardation with a birthweight of 2610 grams at term. At the age of three months, streaking on her nails, bullae, and redness on her legs were detected. Her mental development and intelligence were evaluated to be appropriate for his age. She has been on somatotropin therapy for two and a half years. In addition, she is followed by pediatric rheumatology with antinuclear antibody (ANA) positivity. In her family history, her mother was being followed with psoriasis. Pre-procedural laboratory findings (haemogram, complete blood count, renal function tests, electrolytes, and coagulation profile) and echocardiography were normal. No craniofacial and vertebral anomalies were detected in the preoperative evaluation. Mallampati’s score was IV, and mouth opening was limited.
|Figure 2: RTS patient with sparse scalp hair, sparse or absent eyelashes, eyebrows, skeletal abnormalities, and juvenile cataracts|
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A transparent ventilation mask was prepared to monitor the mouth’s contents, and different sizes of cuffed intubation tubes, laryngeal mask airways (LMA), stylets, bougies, and a videolaryngoscope were ready for this patient group whose airway management is difficult. A double reservoir vacuum device was prepared for this patient, who had an increased risk of intraoral bleeding and aspiration due to hypodontia and gingival hypertrophy during airway manipulation. The preoperative fasting period was determined as 6 hours, and the blood glucose level was monitored. Routine standard hemodynamic monitoring (electrocardiography, heart rate (HR), respiratory rate (RR), non-invasive blood pressure (NIBP), pulse oximetry, and body temperature) was applied to the patient who was taken to the operation room. A soft cotton bandage was wrapped around the patient’s arm before the blood pressure cuff was attached to reduce pressure-related skin damage. HR was 93/min, SpO2 was 100%, and NIBP was 93/59 mmHg. Oxygen support at 4 L/min was administered with a nasal oxygen cannula. In the ward, vascular access could not be established, and mask induction was preferred because of multiple attempts. The patient was administered 8% sevoflurane with a mask for induction. Adequate sedation depth was evaluated with the Ramsey Sedation Scale, and when level 5 was reached, a 24 G peripheral intravenous (IV) catheter was placed. After the vascular access, propofol 80 mg and fentanyl 10 µg IV was administered. The 2.0 size LMA was preferred due to the short duration of the planned procedure and the lack of need for muscle relaxants [Figure 3]. Sevoflurane was used as 2% for anesthesia maintenance, and the patient was followed up with her spontaneous breathing. Pressure points were carefully controlled during patient positioning due to skin problems and sensitivity. Keeping in mind that dehydration, electrolyte imbalance, and hypoglycemia are common in these patients, 500 mL of fluid containing 3.33% dextrose-0.3% sodium chloride was administered.
The operation took about 35 minutes. The patient, who was taken to the post-anesthesia care unit (PACU), was transferred to the service after the Richmond Agitation-Sedation scale score was evaluated as 9. The patient, who was stable on the first day after the procedure, was discharged without complication.
| Discussion|| |
While RTS is a rare syndrome, there is little data on anesthesia management. The need for anesthesia arises in these patients for many reasons, such as juvenile cataracts, dental anomalies, syndactyly, and other extremity anomalies. Moreover, this situation creates a high airway risk in patients with difficult airways for many reasons, such as craniofacial anomaly, dental anomaly, prognathism, and limited mouth opening.
In a case report published by Kasat et al., an 11-year-old patient with a diagnosis of RTS underwent esophagogastroduodenoscopy (EGD) under general anesthesia, and it was emphasized that preoperative preparation was the main point. In our case, we aimed to reduce the risks, such as possible electrolyte imbalance, dehydration, and accompanying anomalies, through detailed preoperative laboratory and cardiac evaluation. In addition, different sizes of cuffed intubation tubes, stylets, bougies, and video laryngoscopes should be kept ready in the room for these patients who are considered to have difficult intubation due to reasons such as craniofacial and dental anomalies, prognathism, and restricted mouth opening. In such cases, the risk of aspiration with increased frequency of nausea and vomiting due to frequent intraoral bleeding and gastrointestinal problems should be remembered, and a double-drained vacuum and aspiration system should be prepared.
Constantini et al. detected atypical meningioma in a 28-year-old patient with RTS and performed resection under general anesthesia. However, they did not detail the anesthesia management. When we look at the literature, we see very few publications for RTS. In addition, no contraindications for anesthetic drugs were specified, and preoperative preparation and perioperative management were generally emphasized.
| Conclusion|| |
Although it is rare, we should consider multiple systems in this and similar patients and keep in mind how sensitive these patients are by closely following every step from the preoperative evaluation stage to the discharge from the PACU.
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|| |
Larizza L, Roversi G, Volpi L Rothmund-Thomson syndrome. Orphanet J Rare Dis 2010;5:2.
Wang LL, Gannavarapu A, Kozinetz CA, et al
. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. JNCI Journal of the National Cancer Institute 2003;95:669-74.
Lu L, Jin W, Wang LL RECQ DNA Helicases and Osteosarcoma. Adv Exp Med Biol 2020;1258:37-54.
Wang LL, Levy ML, Lewis RA, Chintagumpala MM, Lev D, Rogers M, et al
. Clinical manifestations in a cohort of 41 Rothmund-Thomson syndrome patients. Am J Med Genet2001;102:11-7.
Kasat N, Shah H, Chhabria R, Dave N Rothmund–Thomson syndrome: Anaesthesia considerations. Southern Afr J Anaesth Anal 2016;22:129-30.
Constantini S, Pencovich N, Margalit N Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome. Surg Neurol Int 2012;3:148. doi:10.4103/2152-7806.104742.
[Figure 1], [Figure 2], [Figure 3]