Common Peroneal Nerve and Tarsal Tunnel Release Surgery in an Adolescent Male with Hunter Syndrome: Illustrative Case.

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.

Bow Hunter Syndrome: An Illustrative Case and Operative Management.

The differential for vertebrobasilar insufficiency is wide and can be caused by posterior circulation infarcts, steal-type phenomena, or other systemic causes. In the absence of imaging findings explaining symptomology, the utility of appropriate history gathering and dynamic angiography cannot be understated in identifying Bow Hunter's syndrome, a rare cause of dynamic vertebrobasilar insufficiency. We present a case of a 69-year-old man who complained of presyncope and severe dizziness when turning his head towards the right. On examination he had no radiculopathy but did have objective evidence of myelopathy. Computed tomography imaging and dynamic angiography demonstrated C3-C4 right uncovertebral joint hypertrophy and near complete stenosis of the right vertebral artery with dynamic head position towards the right. Given vertebrobasilar insufficiency and myelopathy, he was taken to the operating room for C3-C4 anterior cervical discectomy and fusion with vertebral artery decompression (Video 1). The patient provided consent for the procedure. Standard anterior cervical neck dissection was undertaken with additional platysmal undermining to facilitate exposure of the right uncovertebral joint and transverse processes. The vertebral artery was first decompressed above and below the area of most significant stenosis at the respective transverse foramina before the hypertrophied uncovertebral joint was removed. Next, discectomy and posterior osteophyte removal were completed in typical fashion followed by graft, plate, and screw placement. Postoperatively the patient had immediate resolution of symptoms and continued so at eight month follow-up. Imaging demonstrated return to normal caliber of the right vertebral artery and successful decompression.

[The combination of recurrent otitis media and adenotomy in early childhood as diagnostic marker of mucopolysaccharidosis type II (Hunter syndrome)]. / Sochetanie retsidiviruyushchego srednego otita i adenotomii v rannem detskom vozraste kak diagnosticheskii marker mukopolisakharidoza II tipa (sindroma Khantera).

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.

Significance of Provocative Perfusion Computed Tomography for Evaluation of Bow Hunter Syndrome.

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.

Surgical consideration in Hunter syndrome: a case of hydrocephalus and a case of epidural hematoma.

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.

Clinical characteristics and surgical history of Taiwanese patients with mucopolysaccharidosis type II: data from the hunter outcome survey (HOS).

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.

Ampliação do transplante de células-tronco hematopoiéticas para mucopolissacaridose tipo II / Extension of hematopoietic stem cell transplantation for type II mucopolysaccharidosis

INTRODUÇÃO: A mucopolissacaridose tipo II (MPS II), ou síndrome de Hunter, é uma doença multissistêmica, cujas manifestações clínicas são heterogêneas e progressivas. Além disso, os pacientes podem apresentar regressão neurológica, sendo então classificados em indivíduos com doença grave ou atenuada, com amplo espectro fenotípico entre esses extremos. Não existe tratamento curativo para a MPS II. O cuidado dos pacientes envolve equipe multidisciplinar e inclui intervenções realizadas para amenizar o fenótipo ou específicas como o transplante de células-tronco hematopoiéticas (TCTH) alogênico mieloablativo aparentado e não aparentado ou a terapia de reposição enzimática (TRE) intravenosa semanalmente. O TCTH alogênico mieloablativo aparentado e não aparentado utilizando sangue do cordão umbilical ou medula óssea pode ser uma alternativa terapêutica com potencial de fornecer a atividade enzimática necessária para reduzir ou parar a progressão da doença, entretanto o uso do TCTH ainda é controverso, tanto pelos altos riscos de morbi-mortalidade - como a imunossupressão antes e depois do procedimento, quanto pela escassez de evidência na literatura. Alguns autores inclusive sugerem que poderia existir um viés de publicação, com relatos apenas dos casos com desfechos negativos e com poucos relatos de indivíduos que foram submetidos ao procedimento nas primeiras semanas/meses de vida. Em relação ao TCHT aparentado, o doador não deve ser portador de mutações patogênicas no gene IDS. METODOLOGIA E ESTUDOS SELECIONADOS A busca de evidências foi realizada no Pubmed utilizando a seguinte estratégia: "Bone Marrow Transplantation"[Mesh] AND "Mucopolysaccharidosis II"[Mesh] OR ("Stem Cell Transplantation"[Mesh]) AND "Mucopolysaccharidosis II"[Mesh], limitado para estudos em humanos. O resultado foram 36 artigos, dos quais nenhum ensaio clínico ou estudo controlado. Foram identificados apenas três estudos prospectivos, dentre os quais apenas um com desfechos relevantes. Deste modo, avaliamos todos os estudos retrospectivos com n>5 pacientes, o único relato de caso brasileiro encontrado, um estudo recente avaliando a implementação de um protocolo internacional para TCTH em pacientes com mucopolissacaridose e a única revisão sistemática encontrada que inclui resultados sobre TCTH. RESULTADOS: Pacientes: Os pacientes avaliados receberam transplante com idades variando entre 70 dias de vida [14] e 16 anos de idade [5] e foram seguidos por períodos igualmente variáveis, mas em geral superior a 5 anos [5,7­12,14], com exceção de um estudo, cuja mediana foi de 14 meses [13]. Além disso o comprometimento neurológico foi heterogêneo antes do TCTH, variando de pacientes assintomáticos a outros apresentando regressão neurológica. Mortalidade e doença do enxerto versus hospedeiro: Um estudo prospectivo acompanhou n=8 pacientes por 7 a 17 anos, apenas um paciente faleceu nesse período, por causas não relacionadas ao transplante e apenas um paciente apresentou reação crônica pulmonar do enxerto versus hospedeiro [5]. Entre os estudos retrospectivos, um estudo publicado em 1999 relatou que, sete anos após transplante de medula óssea, apenas n=3/10 pacientes estavam vivos, fato ocasionado provavelmente pela seleção inadequada de doadores [10]. Estudos mais recentes apresentam resultados encorajadores, com taxa de sobrevida global em 3 anos de 100% (n=12) [13], 88,5% em 5 anos(n=21) [9], ou relatos de que 18% dos pacientes faleceram por causas relacionadas ao transplante (n=9/51) e doença do enxerto versus hospedeiros em 16% de todos pacientes avaliados (n=8/51) [12]. O caso brasileiro é de um menino transplantado aos 70 dias de vida, vivo 7 anos após o transplante [14]. Vale relatar outro estudo que avaliou o TCTH em casos de MPS (n=62 pacientes, MPS II n=2), cuja sobrevida global foi excelente (95,2%) e a vida livre de eventos (90,3%) com baixa toxicidade: 13,3% e 14,8% de doença do enxerto versus hospedeiro aguda e crônica, respectivamente [15]. Neurológico: o desfecho neuropsicológico foi heterogêneo no único estudo prospectivo avaliando tal desfecho, provavelmente devido à heterogeneidade clínica dos pacientes [5]. Em estudos retrospectivos, houve estabilização da atrofia cerebral [9,10,12] e alguma melhora das habilidades motoras e da fala [13]. O paciente brasileiro demonstrou melhora motora, cognitiva e na linguagem, apesar do QI baixo (47, teste WISC-IV), desenvolvimento superior e positivo se comparado ao tio e irmão mais velhos [14]. Cardiovascular: As anormalidades cardiovasculares se estabilizaram em todos os pacientes num estudo prospectivo (n=8) [5] e a regurgitação valvular diminuiu em n=20/63 valvas de 10 pacientes, num estudo retrospectivo [9], mas foi inconclusiva em outro (n=12) [13]. Funcionalidade: houve melhora das contraturas articulares nos pacientes submetidos ao TCTH [5,12,13], As atividades de vida diária não se modificaram significantemente em um estudo retrospectivo [9], enquanto outro relatou melhora na doença somática e movimento quando comparados os pacientes em TRE com aqueles submetidos ao TCTH [12]. Bioquímica: Houve normalização da atividade da enzima idursulfase e redução de GAG urinários nos estudos que avaliaram esses desfechos [5,9,10,12,13]. Outros desfechos: houve resolução da hepatoesplenomegalia em todos os pacientes avaliados, melhora da obstrução de vias aéreas superiores, resolução progressiva da face infiltrada, na deficiência auditiva sensório-neural e estabilidade na deficiência auditiva condutiva, nos indivíduos avaliados por uma coorte prospectiva [5]. TRE versus TCTH: Não há estudos controlados comparando diretamente ambas intervenções. Os efeitos do TCTH são comparáveis aos da TRE quanto à eficácia na doença visceral e parecem ser superiores para desfechos neurológicos, do desenvolvimento [9,10,13] e em atividades da vida diária [12]. DISCUSSÃO E CONCLUSÃO: Os estudos publicados sobre TCTH na MPS II podem estar ultrapassados, já que muitos protocolos para transplante se modificaram positiva e significativamente ao longo dos últimos anos. Além disso, referem-se a coortes heterogêneas, de pacientes com diferentes doenças metabólicas ou relatos de casos isolados e também revelam a falta de critérios de seleção dos pacientes, uma vez que muitos já apresentavam idade avançada no momento do transplante, ou apresentavam fenótipos variáveis quanto ao comprometimento neurológico. Do mesmo modo, os parâmetros de acompanhamento e os desfechos de interesse pós-TCTH igualmente heterogêneos, dificultando comparações entre os diferentes estudos e conclusões mais sólidas, ou ainda por outros vieses menos claros, tal como a possibilidade de existência de vieses de publicação [6]. Apesar de todas as limitações supracitadas, os resultados parecem muito promissores. A morbi-mortalidade relacionada ao TCTH vem reduzindo-se progressivamente com o advento de novos protocolos, imunossupressores, melhor seleção dos pacientes candidatos e doadores [15], inclusive com relato de sucesso em paciente brasileiro [14]. Como se deve trabalhar sempre com a melhor evidência disponível, incluem-se nesta Nota Técnica todos os estudos relevantes na literatura e estes demonstraram que pode haver benefício em desfechos somáticos e neurológicos. Além disso é válido salientar que a TRE intravenosa não atravessa a barreira hematoencefálica, deve ser realizada semanalmente, durante 3 a 4 horas por infusão e continuar por toda a vida, fato que pode contribuir para considerar a TCTH como alternativa terapêutica. Deste modo, o TCTH alogênico mieloablativo aparentado e não aparentado parece ter um risco de morbi-mortalidade progressivamente menor ao passar dos anos e alguns efeitos positivos na MPSII, especialmente nos pacientes jovens. Com isso, parece ser apropriado que se reconsidere o TCTH como tratamento para a forma neuronopática da MPS II, uma vez que ele é o único tratamento atualmente disponível potencialmente capaz de proporcionar benefícios em termos neurológicos quando critérios rígidos de seleção são respeitados. Assim, o TCTH alogênico pode ser indicado em idade precoce, preferencialmente até 3 anos de idade.

Bow Hunter's Syndrome from a Tortuous V1 Segment Vertebral Artery Treated with Stent Placement.

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.

Tracheobronchial stents in mucopolysaccharidosis.

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.

Aorto-Tracheopexy in the Treatment of Hunter Syndrome.

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.

Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II.

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.

Mucopolysaccharidosis type II, Hunter's syndrome.

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.

Hunter syndrome (Mucopolysaccharidosis type II), severe phenotype: long term follow-up on patients undergone to hematopoietic stem cell transplantation.

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.

Tracheostomy in mucopolysaccharidosis type II (Hunter's Syndrome).

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.

The first cardiac transplant experience in a patient with mucopolysaccharidosis.

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.

[Anesthesia for three patients with Hunter syndrome].

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.

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

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.