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Background: Children with Hunter syndrome have a high prevalence of nerve compression syndromes given the buildup of glycosaminoglycans in the tendon sheaths and soft tissue structures. These are often comorbid with orthopedic conditions given joint and tendon contractures due to the same pathology. While carpal tunnel syndrome and surgical treatment has been well-reported in this population, the literature on lower extremity nerve compression syndromes and their treatment in Hunter syndrome is sparse., Observations: We report the case of a 13-year-old male with a history of Hunter syndrome who presented with toe-walking and tenderness over the peroneal and tarsal tunnel areas. He underwent bilateral common peroneal nerve and tarsal tunnel releases, with findings of severe nerve compression and hypertrophied soft tissue structures demonstrating fibromuscular scarring on pathology. Post-operatively, the patient's family reported subjective improvement in lower extremity mobility and plantar flexion., Lessons: In this case, peroneal and tarsal nerve compression were diagnosed clinically and treated effectively with surgical release and postoperative ankle casting. Given the wide differential of common comorbid orthopedic conditions in Hunter syndrome and the lack of validated electrodiagnostic normative values in this population, the history and physical examination and consideration of nerve compression syndromes are tantamount for successful workup and treatment of gait abnormalities in the child with Hunter syndrome.

Mucopolysaccharidoses are a group of rare lysosomal accumulation diseases caused by a deficiency of the lysosomal enzyme and the accumulation of mucopolysaccharides in various organs and tissues. Children with mucopolysaccharidosis type II (Hunter syndrome) develop multisystem dysfunction, including severe airway obstruction. At the same time, 34% of patients already at an early age (2-3 years) undergo surgical manipulations related to ENT organs (tonsillectomy, adenotomy). The article describes a clinical case of diagnosis of type II mucopolysaccharidosis by a pediatric otorhinolaryngologist. The main manifestations of the disease are discussed in detail, including the presence of indications for adenotomy at the age of 2 years, episodes of otitis media, which served as diagnostic markers for suspected orphan disease mucopolysaccharidosis type II. The leading role of the pediatric otorhinolaryngologist in the early diagnosis of the rare disease mucopolysaccharidosis type II is substantiated.

Introduction: Hunter syndrome (HS) is a rare X-linked lysosomal storage disorder which affects multiple organ systems. Surgical intervention and general anesthesia should be used with caution because of significant airway complications., Case Report: Two HS patients underwent surgery with different prognosis are presented below. In the first case, symptoms of progressive disabilities on motor function, language, intelligence, and development last for 1 year in a 6-year-old boy; magnetic resonance imaging (MRI) showed severe hydrocephalus. Third ventriculostomy was performed in this patient to relieve the hydrocephalus. Unfortunately, this patient died postoperatively due to postsurgical tracheal collapse. In the second case, an 8-year-old girl was referred to our hospital with epidural hematoma because of a falling accident. Trephination surgery was performed under local anesthesia to remove the hematoma. Three days postsurgical, the patient was discharged uneventfully., Conclusion: General anesthesia in HS patients was associated with poor prognosis due to respiratory complications. Local anesthesia and less intensified treatment should be recommended.

Bow hunter syndrome (BHS) is a rare vascular phenomenon of vertebrobasilar insufficiency caused by dynamic stenosis of the vertebral artery (VA) by osteophytes, fibrous bands, or disk herniation with neck rotation. We present a rare case of a patient with bilaterally patent VAs on neutral imaging and bilateral dynamic compression of VA with left head rotation. Provocation tests are critical toward understanding dynamic pathophysiology of BHS because normal neutral vascular imaging does not preclude diagnosis of BHS. Although dynamic angiography is the gold standard for diagnosis of BHS, cerebral angiography could be invasive and risky. Provocative test using perfusion computed tomography scan is a simple and noninvasive method to assess BHS on an outpatient basis., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Background: Mucopolysaccharidosis type II (MPS II) is the most frequently occurring MPS in Taiwan, with an incidence of 2.05 per 100,000 live male births, but little is known about clinical characteristics and surgical history in Taiwanese patients., Methods: Medical history, demographics, signs and symptoms, and surgical history were analysed in all patients from Taiwanese centres in the Hunter Outcome Survey (HOS; NCT 03292887), a global, multicentre registry that collects real-world data on patients with MPS II., Results: As of January 2016, 61 male Taiwanese patients were enrolled; 49% (24/49) had received at least one infusion of idursulfase. Median (10th, 90th percentiles) ages at signs and symptom onset and at diagnosis were 2.5 (0.2, 5.5) years (n = 55) and 3.5 (1.2, 11.9) years (n = 56), respectively. Hernia, facial features consistent with MPS II and claw hands were the earliest presenting signs and symptoms (median ages of 3.2 [0.4, 12.0] years, 4.3 [1.1, 12.0] years and 4.7 [2.5, 12.2] years [n = 45, 53 and 50], respectively). More than 75% of patients had undergone a surgical procedure, most commonly hernia repair (57% of patients). Median age at first surgery for hernia repair was 4.2 (0.5, 9.8) years (n = 35). Almost one-third (31.1%) of patients had at least one surgical procedure before diagnosis, and of the 20 procedures before diagnosis, 16 were hernia repair., Conclusions: This information from patients in HOS highlights the importance of both medical and surgical history in diagnosing MPS II in Taiwanese patients.

Background: Bow hunter's syndrome is a dynamic and reversible occlusion of the vertebral artery occurring after rotation or extension of the neck. The V3 segment is the most common site of compression, especially at the atlantoaxial joint. Surgical decompression with or without cervical fusion has been the mainstay of therapy. Endovascular intervention, such as placement of stents, is rarely performed., Methods: We report a patient with bow hunter's syndrome from tortuosity of the V1 segment of the VA treated with a self-expanding biliary stent placement., Results: The symptoms where completely resolved by this treatment., Conclusions: Stent placement is a safe and effective option for V1 segment causes of Bow Hunter's syndrome, especially in absence of bony compression., (Published by Elsevier Inc.)

Introduction: The mucopolysaccharidoses are a group of hereditary disorders pathologically characterized by tissue accumulation of glycosaminoglycans due to deficient lysosomal metabolism which often leads to progressive airway stenosis and respiratory insufficiency. Relentless and treatment-refractory narrowing of the lower airways with ensuing severe limitation of quality of life is a challenging problem in mucopolysaccharidoses., Case Reports: We report 2 cases of MPS (Hunter's and Maroteaux-Lamy's syndrome resp.) in whom tracheal stents were placed to relieve severe tracheal obstruction. The first patient could be weaned from mechanical ventilation after stent placement but showed significant long-term stent-related morbidity. The second patient suffered a severe procedure-related complication due to positioning problems typical for MPS., Conclusions: Very good short-term success can be achieved with airway stent placement in patients with MPS and severe lower airway stenosis but a high risk of severe complications and important long-term morbidity have to be weighed against potential individual benefit., (Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.)

Hunter syndrome is a multisystem genetic disease in which a significant proportion of morbidity and mortality arise from respiratory dysfunction. Notably, tracheal abnormalities in Hunter syndrome can compromise clinical stability, and management is primarily supportive. We describe here the first successful implementation of aorto-tracheopexy in a 19-year-old patient as a surgical strategy to resolve progressive respiratory deterioration., (Copyright © 2015 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder caused by deficient activity of the iduronate-2-sulfatase. This leads to accumulation of glycosaminoglycans (GAGs) in the lysosomes of various cells. Although it has been proposed that bone marrow transplantation (BMT) may have a beneficial effect for patients with MPS II, the requirement for donor-cell chimerism to reduce GAG levels is unknown. To address this issue, we transplanted various ratios of normal and MPS II bone marrow cells in a mouse model of MPS II and analyzed GAG accumulation in various tissues. Chimerism of whole leukocytes and each lineage of BMT recipients' peripheral blood was similar to infusion ratios. GAGs were significantly reduced in the liver, spleen, and heart of recipients. The level of GAG reduction in these tissues depends on the percentage of normal-cell chimerism. In contrast to these tissues, a reduction in GAGs was not observed in the kidney and brain, even if 100 % donor chimerism was achieved. These observations suggest that a high degree of chimerism is necessary to achieve the maximum effect of BMT, and donor lymphocyte infusion or enzyme replacement therapy might be considered options in cases of low-level chimerism in MPS II patients.

Hunter syndrome is caused by deficiency of the lysososmal enzyme iduronate-2-sulphatase that cleaves O-linked sulphate moieties from dermatan sulphate and heparan sulphate and leads to accumulation of GAGs. The disease is a X-linked condition affecting males and rarely females, clinically divided into severe (2/3) and attenuated types. Children with severe form, diagnosed at 12-36 months, have coarse facial feature, short stature, joint stiffness, short neck, broad chest, large head circumference, watery diarrhea, skeletal changes, progressive and profound mental retardation, retinal degeneration' hearing loss, cardiomyopathy, valvular involvement, with progressive thickening and stiffening of the valve leaflets leading to mitral and aortic regurgitation and stenosis . Recurrent and prolonged rhinitis with persistent nasal discharge are the first symptoms of airway disease that manifests itself as noisy breathing and later sleep apnea. Some patients develop ivory-colored skin lesions on the upper back and sides of the upper arms, pathogenomic of Hunter syndrome. The scalp hair becomes coarse, straight and bristly. Inguinal and umbilical hernias occur caused by the disturbed structure of connective tissue and increased liver and spleen volume. Patients with attenuated form have normal intelligence and a milder phenotype. Physical features diagnosed later are similar but less pronounced but progress to severe disease. Sceening is by quantitative assessment of urinary GAGs excretion. Qualitative assessment of GAG by electrophoresis can distinguish the type of mucopolysaccharidosis. Definitive diagnosis is based on enzyme activity assay in leukocytes, fibroblasts or plasma. Molecular testing is recommended mainly for genetic counseling and carrier detection. Limited experience of Haematopoietic stem cell therapy in MPS II showed progressive neurodegeneration. Recombinant 125 Idursulfase, is indicated for long-term treatment. The response appears to depend on the severity of the disease and the age treatment is started, Improvements in a composite endpoint comprising: change in walking distance percentage of predicted forced vital capacity (%FVC) ,decrease in liver and spleen volume and urinary GAG levels were encouraging. Current research is focused on pharmacological chaperones, gene therapy and substrate reduction therapy and therapies that, unlike Idursulfase, do cross the blood-brain barrier.

Aim: Our study aim is the evaluation of long-term effects of hematopoietic stem cell transplantation on Italian patients with severe Hunter syndrome., Methods: Four boys, suffering from Hunter syndrome, severe phenotype, received hematopoietic stem cell transplantation between 2 years 6 months and 2 years 11 months of age, from 1992 to 2001. A complete multidisciplinary evaluation of hematopoietic stem cell transplantation long-term effects was performed periodically., Results: All patients achieved successful engraftment. Urine glycosaminoglycans excretion was reduced or normalized, and the activity of leukocyte iduronate-2-sulphatase enzyme, absent before hematopoietic stem cell transplantation, remained constant, in all patients. Dysostosis multiplex progressed over time, according to the natural evolution of the disease. Joint stiffness improved in all affected districts. Hepatosplenomegaly decreased until it disappeared. The cardiovascular involvement stayed unchanged, as well as hearing loss. Skin became hyperelastical; face features seemed less coarse if compared to the natural evolution of the disease. Cerebral white matter alterations were constant in time. On the contrary, the hematopoietic stem cell transplantation did not prove to have long-term effectiveness on neurological symptoms of Hunter syndrome., Conclusion: The hematopoietic stem cell transplantation was successful in slowing the progression of Hunter syndrome, and even the evolution of neurological feature of the disease was slower in the first years after this treatment.

Objective: Patients with mucopolysaccharidosis type II (MPS II) may develop progressive multi-level upper airway obstruction. Despite the unique challenges presented by these complex patients, tracheostomy remains an important intervention to safeguard the airway when other interventions have failed or when the airway obstruction involves multiple sites. Airway involvement is largely responsible for the significant anaesthetic risk seen in MPS II. We reviewed our tertiary unit's experience of tracheostomies in patients with MPS II., Study Design: Retrospective study., Methods: Case note review of MPS II patients requiring tracheostomy at our tertiary institution. The primary outcome measure used for this study was complications following tracheostomy., Results: We identified 10 MPS II patients requiring tracheostomy to manage upper airway obstruction. Mean age at which tracheostomy was 11 years 2 months (range 4 years 6 months to 28 years 10 months). Tracheostomy insertion was indicated in 3 scenarios: (1) to safeguard an anticipated difficult airway prior to a planned non-ENT surgical procedure, (2) to treat refractory progressive upper airway obstruction and (3) emergency airway management. Complications recorded included infratip and suprastomal granulations, local wound infection and skin ulceration from mechanical trauma. There were no immediate postoperative complications., Conclusions: Progressive upper airway obstruction is common in children with MPS II. Tracheostomy is an effective way of managing airway obstruction when less invasive interventions are no longer adequate. Tracheostomy in these patients can be technically difficult and although the complications of tracheostomy in MPS II do not significantly differ from other patient groups, the implications and management complexity vary considerably. The impact of ERT on airway obstruction is not yet fully understood, with tracheostomies likely to remain an important airway adjunct in some patients who fail to respond to ERT, or in those patients surviving into adulthood. It is vital that a multidisciplinary team, comprising clinicians with experience in managing such patients, are involved in airway management of patients with MPS II to enable the best standard of care to be given. The significant additional implications of a tracheostomy in a patient with MPS II, in terms of safety, aftercare and potentially life-threatening complications must be discussed in detail with the patient's family and/or carers., Level of Evidence: 2c., (Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.)

Hunter syndrome (MPSII) is a rare X-linked lysosomal storage disorder that can affect multiple systems but primarily affects the heart. We report the case of a previously asymptomatic 23-year-old patient who had an attenuated form of MPSII and presented with refractory heart failure that required a heart transplant. The diagnosis was confirmed by detection of an increase in urinary excretion of glycosaminoglycans, a deficiency in enzymatic activity, and molecular analysis. A myocardial biopsy revealed hypertrophic cardiomyocytes, mild fibrosis, and lysosomal storage in interstitial cells. Molecular analysis identified a novel mutation in the iduronate-2-sulfatase gene. Although the clinical outcome was not favorable, we believe that this approach may be valid in end-stage heart failure., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Airway compromise is one of the greatest concerns in the anesthetic management in Hunter syndrome. We report anesthetic management of three cases of Hunter syndrome. The first was a 3-year-old boy scheduled for laparoscopic inguinal hernia repair. A laryngeal mask airway (LMA) was inserted and fiberoptic intubation through the LMA was successfully performed. The second was a 23-year-old man with a past history of difficult intubation, scheduled for repair of femur neck fracture. He received lateral cutaneous nerve block and monitored anesthesia care using remifentanil. The third was a 53-year-old man scheduled for repair of giant inguinal hernia. Having failed regional (combined spinal and epidural) anesthesia, we administered general anesthesia with placement of a LMA. Manual assisted ventilation was needed during operation due to unideal fit. The difficulty of airway management in Hunter syndrome is thought to increase with age. The airway obstruction is one of the most essential problems for anesthesia in these patients. It is important to assess the airway carefully, and to make plans for the anesthesia.

Purpose: To characterize surgical histories typical of patients with mucopolysaccharidosis type II, thereby broadening understanding of the natural history of these patients and helping physicians recognize the disease., Methods: Data on surgical interventions from the Hunter Outcome Survey--a multinational, observational database of patients with mucopolysaccharidosis type II-were analyzed. The study population comprised 527 patients for whom surgical data were reported on/before July 23, 2009., Results: Surgical interventions were performed in 83.7% of the study population. Patients underwent their first operation at a median age of 2.6 years. Tympanostomies, repairs of inguinal hernias, and operations for carpal tunnel syndrome were performed in a greater proportion of the study population than the general population. A median of 3.0 operations was performed per patient; repeat operations for hernia or carpal tunnel syndrome were common. The majority of patients (221/389) underwent at least one surgical intervention before diagnosis of mucopolysaccharidosis type II., Conclusion: Patients with mucopolysaccharidosis type II typically undergo surgical intervention at a young age, often before diagnosis. Repeated early surgical interventions, particularly for hernias or carpal tunnel syndrome, are characteristic of patients with mucopolysaccharidosis type II. We recommend that such patients are carefully examined for manifestations of mucopolysaccharidosis disorders and referred for diagnostic testing.

Hunter syndrome, manifested by mucopolysaccharidosis II (MPS II), is a hereditary disorder caused by accumulation of glycosaminoglycans. An important issue in regard to anesthesia in affected individuals is airway management, because of gargoylism. An 8-year-old boy with MPS II was scheduled for adenotonsillectomy. We performed slow induction with sevoflurane, then utilized an Airway Scope (AWS; HOYA Corporation Tokyo, Japan), which enables operators to observe tube passage through the vocal cords with an LCD monitor, for tracheal intubation, because intubation guided by a fiberoptic bronchoscopy (FOB) was considered to be risky for glottic damage. Attempted tracheal intubations with the AWS alone and in combination with an FOB inserted through the tracheal tube failed, even though a clear image of the glottis was obtained. Finally, we inserted a stylet into the tracheal tube attached to the blade of the AWS and successful tracheal intubation was accomplished. The operation was completed uneventfully and the patient entered the ICU with his trachea intubated, because of pharyngeal and laryngeal edema. Although useful for difficult airway management, tracheal intubation with the AWS may be difficult when used in patients with a narrow oral cavity or small tracheal tube.

Objective: To evaluate the effect of bone marrow transplantation in children with Hunter syndrome., Study Design: Eight boys received a bone marrow graft between the ages of 3 and 16 years from 1990 to 2000. In 6 cases, the donor was a sibling with identical HLA status, in 1 case an unrelated donor with HLA-compatible, and in 1 case a mismatched unrelated donor. A complete multidisciplinary evaluation was performed yearly., Results: Successful engraftment was achieved in all patients, with the proportion of donor cells reaching > or =95% 1 month after transplantation in all patients. Patients have been followed from between 7 and 17 years and all are still alive, except for 1 boy who died at the age of 10 from unrelated causes. Cardiovascular abnormalities stabilized in all patients, hepatosplenomegaly resolved, and joint stiffness improved, Perceptual hearing defects remained stable, and transmission hearing defects improved. Only 1 child required subsequent surgery to correct kyphosis. Neuropsychological outcome was variable and appeared to be related to the severity of the syndrome., Conclusions: Bone marrow transplantation is effective on the no neuropsychological symptoms of Hunter disease.

We report a rare case of mitral valve stenosis secondary to Hunter syndrome, mucopolysaccharoidosis (MPS) type II in a 33-year-old man. Anatomical abnormalities in patients with MPS present anesthetic and surgical challenges during cardiac surgery. Management of this particular patient was complicated by excessive oral secretions and atrial fibrillation. With a detailed preoperative assessment and planning for airway management, this patient successfully underwent mitral valve replacement and had an uncomplicated hospital course. After 6 months of follow-up, the patient was still in stable condition.

Objective: To investigate the complication rate of tracheotomy in patients with mucopolysacchridoses (MPS) type II (Hunter syndrome)., Materials and Methods: From 2004 to 2005, seven tracheotomy procedures were performed for the airway management in three patients with MPS type II. The complications for each procedure were analyzed, which included the stomal narrowing, granulation formation, infrastomal tracheal stenosis, and wound infection., Results: All tracheotomies in patients with MPS type II resulted in tracheotomy-related complications, though these procedures secured a safe airway. Infrastomal tracheal stenosis was the most frequent complication (85.7%) and stomal narrowing also occurred frequently (71.4%) after each tracheotomy. These complications caused cannula care to be difficult, with revision frequently required., Conclusion: Of the complications observed after tracheotomy, infrastomal tracheal stenosis and stomal narrowing are frequent in patients with MPS type II. Therefore, tracheotomy procedures should be cautiously applied to the MPS type II patients, and the complications associated with tracheotomy should be discussed with caregivers preoperatively.

The mucopolysaccharidoses (MPS) are a group of inherited disorders of metabolism, with widespread, progressive involvement and derangement of many organs and tissues. Because of their disabling nature, frequent surgical intervention for the abnormality entailed is common, and is associated with a high degree of anesthetic risks perioperatively. One of the major hazards which we find clinically is airway difficulty. Multiple factors are present in the mucopolysaccharidoses to make airway management and trachael intubation potentially hazardous. Aside from generalized infiltration and thickening of the soft tissues, the oropharynx may be obstructed by a large tongue with tonsillar hypertrophy. Also, the friable mucosa covering the nasal and oral pharynx renders these structures easily to bleed and edematous. The neck is typically short and immobile, and the cervical spine and tempromandibular joint may have a limited range of movement. From our experience, we have learned not to overlook the propensity of airway difficulty. The uniqueness of their anatomy and extremely sensitive airway often result in failed intubation and bronchospasm even after successful intubation. Recently, in Mackay Memorial Hospital we have encountered in series three pediatric cases with mucopolysaccharidoses (one Hurler and two Hunter syndromes). In this report we would like to share our experiences and to discuss the anesthetic risks and management of the MPS patients.

Hunter's syndrome is due to recessively inherited mucopolysaccharide storage diseases. The anaesthetic complications in this syndrome are related to the organs involved in the disease, but pertain especially to upper airway obstruction problems. We report a patient with Hunter's syndrome who, while under general anaesthesia for a simple procedure (the introduction of bilateral grommets), suffered a fatal outcome.

We present a case of type II mucopolysaccharidosis in which the diagnosis was delayed until the onset of cervical myelopathy in adulthood. Radiographic features were characteristic, with striking dural thickening shown on CT and MR imaging.

A moderately severe spasticity affecting all four limbs, but especially the legs and the right side, developed in a 36-year-old man with mucopolysaccharidosis II (Hunter syndrome) who for 6 months had suffered from pain in the neck radiating into the shoulder. Myelography, computed tomography and magnetic resonance imaging revealed thickening of the cervical meninges as the cause of the symptoms. A laminectomy was performed and the foramen magnum enlarged by an occipital craniotomy. At operation dorsal thickening of the dura was evident; thickened tissue was also palpable in front of the dural sac. Histological examination of a tissue sample revealed deposition of acid mucopolysaccharides. The gait of the patient was improved after the operation and the neck pain disappeared. Similar findings were present in other family members.

A 24-year-old man with Hunter syndrome had spastic quadriparesis due to impingement of thickened meninges upon the cervical spinal cord. Tracheal narrowing due to submucosal deposits (presumably mucopolysaccharide) produced serious ventilatory complications during induction of anesthesia and necessitated tracheostomy before surgical decompression of the spinal cord could be attempted. Recognition of compressive myelopathy and tracheal compromise as late complications of Hunter syndrome may promote early therapy and prevent respiratory catastrophe.