Sanfilippo Syndrome is an autosomal recessive lysosomal storage disease. The accumulation of mucopolysaccharides in a variety of tissues cause changes in anatomic structure and musculoskeletal disorders making interventions to the airway, especially, difficult and causing difficulties for anesthetic administration. The syndrome has an important place in anesthetic administration as it affects more than one system. The aim of this presentation is to remind others of the characteristics of anesthetic method for this group of patients based on a case with diagnosis of Sanfilippo syndrome.

Figure 1. Characteristics of patient’s face.

From the informed consent form used for evaluation by the anesthetic clinic, it was learned that the 4.5 year old male patient had diagnosis of Sanfilippo Syndrome Type B (mucopolysaccharidosis Type III). The case had previous history of adenoidectomy surgery with no problems and physical examination revealed no important pathology, apart from coarse facial features, thick unified eyebrows and short neck (Fig. 1). The laboratory tests of the case were within normal limits and examinations of other systems were natural. The case had circumcision surgery with general anesthetic planned and after standard monitoring was given 50% N₂0 + 50 % O₂ mix including 6-8% sevoflurane for induction and no problems were experienced during ventilation through a mask. After induction, a vein was entered in the back of the hand and fluid replacement with 3.33% dextrose and 0.3% sodium chloride fluid was begun. When sufficient depth of anesthesia was reached a 2.5 number laryngeal mask airway (LMA) was used to provide reliable airway and anesthesia maintenance with 50% O₂ + 50% dry air mix with 2% sevoflurane and infusion of 0.25 µg/kg/min dose remifentanil began. Before the start of the surgical procedure, 120 mg paracetamol suppository was administered rectally for postoperative analgesia. With no problems encountered during the surgical procedure, the patient woke without incident. In the postoperative period no problems were observed.

Mucopolysaccharidosis is a group of metabolic diseases resulting from the lysosomal deposition of partially disintegrated glycoaminoglycans. With progressive organ dysfunction, it causes shortened lifespan. Respiratory and cardiovascular system diseases, coarse facial features, problems with the ear, nose and throat region, skeletal deformities and disorders of the cervical region and spine may be observed. Especially stenosis of the trachea, thickening of the vocal cords, macroglossia, short neck and mucoid secretions causing airway obstruction are the most important involvements causing difficult anesthesia [1-3].

One of the leading clinical findings of the disease is progressive psychomotor regression linked to MSS involvement. Neurological problems frequently present from 2 to 4 years of age. Mucopolysaccharidosis type III, known as Sanfilippo syndrome, is inherited as autosomal recessive and results from lysosomal alpha N-acetylglucosaminidase deficiency [2, 4]. It has subgroups based on deficiencies of four different enzymes and “heparan sulfate”, unable to fully disintegrate, progressively accumulates in lysosomes [2, 5, 6]. The coarse facial features and eyebrows that meet in the middle are typical of physical appearance. Height is short. Stiff joints and hepatosplenomegaly may be found. Progressive craniofacial, joint and skeletal deformities are present [1]. In the cardiovascular system, valvular involvement, heart failure, coronary ischemia and pulmonary hypertension are seen. Cardiac involvement makes the tableau more severe. Death linked to heart failure or pulmonary infections is seen in early childhood [1, 6]. In the pulmonary system, there is airway obstruction, repeated infections and severe sleep apnea. For these children, to resolve respiratory problems yearly ear, nose and throat examinations and tonsillectomy/adenoidectomy are recommended [1]. As a result of deposition of mucopolysaccharides, skeletal deformities and subluxation of the vertebrae and kyphoscoliosis are seen. In the gastrointestinal system there are inguinal and umbilical hernias. Hepatosplenomegaly appears with increased intraabdominal pressure [1]. When a Sanfilippo Syndrome patient is taken for surgery, it must be kept in mind that the chance of encountering serious and dangerous problems during anesthesia is high. In patients with appropriate age and area of surgery, subarachnoid block is another anesthetic method to be chosen. However it should not be forgotten that in mucopolysaccharidosis patients deposits of mucopolysaccharides in the epidural region or on nerve sheaths may lead to failure of epidural block [6, 7]. Preoperative evaluation of cases in this group should be carefully completed in the following way: airway examination, respiratory and cardiac evaluation, neurological evaluation, determination of organ pathologies and musculoskeletal system examination. Additionally it is recommended that patients with chronic respiratory pathologies have blood gas analyses and respiratory function tests in the preoperative period. To provide patients with anesthesia under optimal conditions, treatment of respiratory infections and physiotherapy, evaluation of the cervical region with flexion-extension graphics, determination of extremity weaknesses and abnormal posture with additional determination of organ pathologies should be among the preoperative targets [1]. Odontoid dysplasia in mucopolysaccharidosis patients may cause spinal cord compression. As a result these patients should avoid unnecessary flexion and extension movements of the neck [3]. The parents of our case did not report any negative results experienced during previous adenoidectomy surgery, however the presence of coarse facial features and short neck revealed on physical examination required preparation for possible difficult ventilation and difficult intubation. The problems in the ear, nose and throat region, skeletal deformities, tracheal stenosis and thickening of the vocal cords with deposition of glycoaminoglycans, macroglossia, short neck and mucoid secretions causing airway obstruction are the most important factors affecting anesthetic difficulties in these patients. The incidence of difficult intubation is high [1, 8]. Induction should be through inhalation or intravenous pathways. If necessary short-effect muscle relaxants should be chosen. Airway obstruction, risk of respiratory depression, hypercapnia and high risk of cardiac arrest mean that sedation should be carefully administered and opioids should be avoided [1]. MPS patients can have an increased anesthetic risk due to a difficult airway, cervical spine disease and an increased prevalence of cardiovascular manifestations [9]. And during surgical procedures on this group of patients oxygenation problems and cardiac problems may be observed [8]. The mortality risk related to surgery for mucopolysaccharidosis patients is high. In a study investigating 932 patients and 4762 procedures the 30-day risk of death/procedure and death/patient rates were shown to be 0.7% and 4.2%, respectively [10]. To prepare for the possibility of difficult airway in these cases, all airway equipment, with different sizes and characteristics, should be available. In our case reliable airway was provided by LMA as intubation was not required, however the high incidence of difficult intubation in this group of patients should not be forgotten. In fact in case of emergency tracheostomy an ear, nose and throat specialist should be made ready in the room during the case. Again possible development of glottic and subglottic edema due to multiple intubation attempts in these cases should be remembered and before extubation conditions are fully in place, extubation should not be considered. After extubation, another major risk factor is postobstruction pulmonary edema which may require emergency re-intubation or tracheostomy [11]. After extubation, the postoperative period should pass comfortably for the patients with proper aspiration of secretions, postural drainage, humidified oxygen and chest physiotherapy [1]. Another important point during anesthesia administration in Sanfilippo Syndrome cases is the high risk of malignant hyperthermia and as a result close patient monitoring is necessary. In short, it should be known that mucopolysaccharidosis cases require a multidisciplinary approach to monitoring and treatment. Especially, the presence of an otorhinolaryngologist during approaches to the patient in the peroperative period is important from the point of view of preventing negative results that may occur during airway interventions and to allow emergency interventions [12].

In conclusion, as the surgical procedure did not last long and as circumcision surgery is in the small intervention group, no hemodynamic problems were experienced in the peroperative period of our case. Additionally we did not encounter any difficulty in mask ventilation and LMA insertion. However, possible complications due to the high risk of difficult intubation, risk of malignant hyperthermia, and other organ pathologies in this type of cases should be kept in mind. An important duty falls on anesthetists, especially, to reduce the peroperative morbidity and mortality in these cases and to increase awareness of the disease.

The authors declare that they have no conflict of interest.

This case report had been presented an oral presantation in Turkish Society of Anesthesiology and Reanimation Congresss; TARK 2014 – 25-29 Oct 2014, Ankara/TURKEY.