Adenotonsillectomy for the treatment of OSA in children with mucopolysaccharidosis: A systematic review.

OBJECTIVE: To study the role of adenotonsillectomy (ADT) for obstructive sleep apnea (OSA) in children with mucopolysaccharidosis (MPS). METHODS: A systematic review were performed following the PRISMA guideline. PubMed and Embase were searched for studies regarding adenotonsillectomy for OSA in children with MPS. The MINOR Score were applied for quality assessment of the included studies. RESULTS: Nineteen studies were eligible for inclusion: fifteen were retrospective and four prospective. A total of 1406 subjects were included. The samples size varied from 2 to 336, the male to female ratio is 1.2 and mean age varied from 2.4 to 11 years. Overall, 56.2 % (IC 95%: 53.6-58.8) of the included subjects underwent ADT. MPS I and II are the two most operated types. Three studies, including 50 children, reported improvement in polysomnographic parameters after surgery. Two authors described the duration of follow-up: 8.4 and 9.8 years, respectively. CONCLUSIONS: More than half of children with MPS underwent ADT for the treatment of OSA, although few evidence demonstrated improvement in term of polysomnographic parameters. The two types of MPS most involved are type I and II. Considering the disease progression and anesthetic risks, multidisciplinary management may help identify the subgroup of children with MPS who benefit from ADT for the treatment of OSA.

Post-tonsillectomy outcomes in children with mucopolysaccharidosis and obstructive sleep apnea.

OBJECTIVE: To describe the incidence of respiratory complications, postoperative hemorrhage, length of stay, and cost of care in children with mucopolysaccharidosis (MPS) undergoing adenotonsillectomy (AT). METHODS: Analysis of the 2009, 2012, and 2016 editions of the Healthcare Cost and Utilization Project Kids' Inpatient Database (HCUP KID) identified 24,700 children who underwent AT (40 children with MPS). Demographics, respiratory complications, postoperative hemorrhage, length of stay, and total cost were compared across children with and without MPS. RESULTS: Children with MPS had a higher likelihood of being male (P < 0.017). There was a higher rate of respiratory complications in children with MPS compared with children without MPS [6/40 (15%) vs. 586/24,660 (2.4%), P < 0.001], which remained significant after adjusting for sex [adjusted odds ratio 6.88 (95% CI 2.87-16.46)]. There was also a higher risk of postoperative hemorrhage [4/40 (10%) vs. 444/24,660 (1.8%), P < 0.001), with sex-adjusted odds ratio of 5.97 (95% CI 2.12-16.86). Median (IQR) length of stay was increased in children with MPS (3 days, 1-4) compared with children without MPS (1 day, 1-2, P < 0.001). There was an increase in median (IQR) charges for hospital stay in children with MPS compared with their peers [$33,016 ($23,208.50-$72,280.50 vs. $15,383 ($9937-$24,462), P < 0.001]. CONCLUSIONS: Children with MPS undergoing AT had an increased risk of respiratory complications, postoperative hemorrhage, longer length of stay, and a higher cost of treatment when compared with children without MPS. This information may help inform interventional, perioperative, and postoperative decision making.

Long-Term Outcomes of Big Bubble Deep Anterior Lamellar Keratoplasty in Mucopolysaccharidoses: A Retrospective Case Series and Review of the Literature.

PURPOSE: The purpose of this study was to report the long-term surgical and visual outcomes of patients with mucopolysaccharidoses (MPS) after big bubble deep anterior lamellar keratoplasty (BB-DALK). METHODS: This was a retrospective case series of patients with MPS who underwent BB-DALK at a single academic institution. All patients had corneal clouding secondary to MPS limiting visual acuity for which keratoplasty was indicated. Each patient was evaluated and underwent surgery by a single surgeon. Reported data included age at keratoplasty, sex, MPS type, best spectacle-corrected visual acuity, change in pachymetry, ocular comorbidities, surgical complications, and MPS-related medication use. RESULTS: Outcomes of 12 eyes from 7 patients with MPS type I (Hurler, Scheie, and Hurler-Scheie) are reported using the newest nomenclature. The mean follow-up was 5.58 years (range: 1-10 years). All cases underwent BB-DALK with a type 1 big bubble during the surgery. Two cases (16.6%) required rebubbling because of partial Descemet membrane detachment. One case was complicated by a suture abscess and required a penetrating keratoplasty. No episodes of rejection occurred. Statistically significant improvement in the best spectacle-corrected visual acuity (from a mean 0.85-0.33 logarithm of the minimum angle of resolution, P = logarithm of the minimum angle of resolution 0.0054) and pachymetry (mean reduction of -145.4 µm, P = 0.0018) was observed. CONCLUSIONS: BB-DALK seems to be an acceptable long-term surgical option in patients with MPS. Our findings suggest that this technique is reproducible and can achieve clear corneal grafts with good visual results on a long-term follow-up.

Spinal cord compression in patients with mucopolysaccharidosis.

PURPOSE: Spinal abnormalities frequently occur in patients with mucopolysaccharidosis (MPS) types I, II, IV, and VI. The symptoms are manifold, which sometimes prolongs the diagnostic process and delays therapy. Spinal stenosis (SS) with spinal cord compression due to bone malformations and an accumulation of storage material in soft tissue are serious complications of MPS disease. Data on optimal perioperative therapeutic care of SS is limited. METHODS: A retrospective chart analysis of patients with MPS and SS for the time period 01/1998 to 03/2021 was performed. Demographics, clinical data, neurological status, diagnostic evaluations (radiography, MRI, electrophysiology), and treatment modalities were documented. The extent of the SS and spinal canal diameter were analyzed. A Cox regression analysis was performed to identify prognostic factors for neurological outcomes. RESULTS: Out of 209 MPS patients, 15 were included in this study. The most dominant type of MPS was I (-H) (n = 7; 46.7%). Preoperative neurological deterioration was the most frequent indication for further diagnostics (n = 12; 80%). The surgical procedure of choice was dorsal instrumentation with microsurgical decompression (n = 14; 93.3%). A univariate Cox regression analysis showed MPS type I (-H) to be associated with favorable neurological outcomes. CONCLUSION: Early detection of spinal stenosis is highly relevant in patients with MPS. Detailed neurological assessment during follow-up is crucial for timeous detection of patients at risk. The surgical intervention of choice is dorsal instrumentation with microsurgical decompression and resection of thickened intraspinal tissue. Patients with MPS type I (-H) demonstrated the best neurological course.

Carpal tunnel syndrome and finger deformities in children with mucopolysaccharidoses and mucolipidoses: a retrospective review of 52 patients.

This single-centre retrospective study reports our management of carpal tunnel syndrome in 52 children (103 hands) with mucopolysaccharidoses and mucolipidoses. All except one were bilateral. The median age at surgery was 4 years (range 1.5 to 12). The diagnosis of carpal tunnel syndrome was confirmed by an electromyogram (EMG) in all patients; 38% of these presented without any clinical signs. Surgical neurolysis was performed in all hands, combined with epineurotomy in 52 hands (50%) and flexor tenosynovectomy in 75 hands (73%). Surgery was bilateral in 98% of children (102 hands). The mean follow-up was 12 years (range 1 to 19) and the EMG was normalized in 78% of hands. Ten patients suffered recurrence, eight of whom required further surgery. Screening for carpal tunnel syndrome is essential for the management of children mucopolysaccharidoses and mucolipidoses. Surgical treatment should be carried out early with follow-up by EMG to detect recurrence.Level of evidence: IV.

Functional results after carpal tunnel release in mucopolysaccharidosis.

BACKGROUND: Mucopolysaccharidosis consists of a group of diseases caused by the deficiency of lysosomal enzymes, which may lead to the compression of the median nerve in the carpal tunnel due to the accumulation of glycosaminoglycan, resulting in the hand disability. The study purpose is to present functional results of carpal tunnel release in mucopolysaccharidosis patients. Patients were selected from an enzyme replacement group in the Department of Pediatric Neurology. The legal guardians of the patients were informed about the likely functional change of the hands induced by compression of the median nerve. Clinical evaluation was performed in those patients who received their legal guardians' consent to participate and was included inspection, assessment of functional level, wrinkle test and the digital pinch function to manipulate small and large objects. Ultrasound and electromyography were performed to confirm the clinical median nerve compression. Bilateral extended opening technique was performed to access the carpal tunnel and analyze the anatomic findings of the median nerve and the flexed tendons of the fingers. After the surgical release of the carpal tunnel, the clinical evaluation was repeated. Subjective observations of the legal guardians were also considered. RESULTS: Seven patients underwent bilateral surgical opening of the carpal tunnel; six boys, mean age of 9.5 (5 to 13), five of them presenting Type II mucopolysaccharidosis, 1 Type I and 1 Type VI. The average follow-up was 12 months (10-13 months). The functional results observed included the improvement in the handling of small and large objects in all children who underwent decompression of the median nerve. The comparison between the pre-operative and post-operative functional levels revealed that 2 patients evolved from Level II to IV, 3 from Level III to IV, 1 from Level IV to V and 1 patient remained in Level III. Tenosynovitis around the flexor tendons and severe compression of the median nerve in the fourteen carpal tunnels were observed during the surgical procedure. In 6 wrists, partial tenosynovitis was performed. CONCLUSIONS: Despite the improvement in the overall function of the children' hands, we cannot conclude that only surgery was responsible for the benefit. Better designed studies are required.

Intraoperative Neurological Monitoring in Lower Limb Surgery for Patients With Mucopolysaccharidoses.

BACKGROUND: There are reports of spinal cord injury (SCI) occurring after lower extremity (LE) surgery in children with mucopolysaccharidoses (MPS). Intraoperative neurological monitoring (IONM) has been adopted in some centers to assess real-time spinal cord function during these procedures. The aim of this investigation was to review 3 specialty centers' experiences with MPS patients undergoing LE surgery. We report how IONM affected care and the details of spinal cord injuries in these patients. METHODS: All pediatric MPS patients who underwent LE surgery between 2001 and 2018 were reviewed at 3 children's orthopaedic specialty centers. Demographic and surgical details were reviewed. Estimated blood loss (EBL), surgical time, positioning, use of IONM, and changes in management as a result of IONM were recorded. Details of any spinal cord injuries were examined in detail. RESULTS: During the study period, 92 patients with MPS underwent 252 LE surgeries. IONM was used in 83 of 252 (32.9%) surgeries, and intraoperative care was altered in 17 of 83 (20.5%) cases, including serial repositioning (n=7), aggressive blood pressure management (n=6), and abortion of procedures (n=8). IONM was utilized in cases with larger EBL (279 vs. 130 mL) and longer operative time (274 vs. 175 min) compared with procedures without IONM. Three patients without IONM sustained complete thoracic SCI postoperatively, all from cord infarction in the upper thoracic region. These 3 cases were characterized by long surgical time (328±41 min) and substantial EBL (533±416 mL or 30.5% of total blood volume; range, 11% to 50%). No LE surgeries accompanied by IONM experienced SCI. CONCLUSIONS: Patients with MPS undergoing LE orthopaedic surgery may be at risk for SCI, particularly if the procedures are long or are expected to have large EBL. One hypothesis for the etiology of SCI in this setting is hypoperfusion of the upper thoracic spinal cord due to prolonged intraoperative or postoperative hypotension. IONM during these procedures may mitigate the risk of SCI by identifying real-time changes in spinal cord function during surgery, inciting a change in the surgical plan. LEVEL OF EVIDENCE: Level III-retrospective comparative series.

Tertiary Pediatric Academic Institution's Experience With Intraoperative Neuromonitoring for Nonspinal Surgery in Children With Mucopolysaccharidosis, Based on a Novel Evidence-Based Care Algorithm.

BACKGROUND: Musculoskeletal deformities in mucopolysaccharidoses (MPSs) patients pose unique challenges when patients present for surgery, especially nonspinal surgery. MPS patients have developed postsurgical neurological deficits after nonspinal surgery. While the incidence of neurological deficits after nonspinal surgery under anesthesia is unknown, accumulating evidence provides impetus to change current practice and increased neurological monitoring in these patients. Intraoperative neurophysiologic monitoring (IONM) with somatosensory evoked potentials (SSEPs) and transcranial motor evoked potentials (TcMEPs) has been implemented at select institutions with varying degree of success. This report describes our experience with IONM in the context of a multidisciplinary evidence-based care algorithm we developed at Cincinnati Children's Hospital Medical Center. METHODS: We conducted a retrospective chart review of the electronic medical record (EPIC), for data from all MPS patients at our institution undergoing nonspinal surgery between September 2016 and March 2018. Patients were identified from IONM logs, which include procedure and patient comorbidities. Data concerning demographics, morbidities, degree of kyphoscoliosis, intraoperative administered medications and vital signs, surgical procedure, the IONM data, duration of surgery, and blood loss were extracted. Descriptive analyses were generated for all variables in the data collected. In addition, any IONM changes noted during the surgeries were identified and factors contributing to the changes described. RESULTS: Thirty-eight patients with a diagnosis of MPS underwent nonspinal surgery, and of those 38, 21 received IONM based on preoperative decision-making according to our care algorithm. Of the 21 patients who received IONM, we were able to get reliable baseline potentials on all patients. Of the 21 patients, 3 had significant neurophysiologic changes necessitating surgical/anesthetic intervention. All of these changes lasted several minutes, and the real-time IONM monitoring was able to capture them as they arose. None of the patients sustained residual neurological deficits. Thus, children who did not fit the criteria for IONM (n = 13) based on our algorithm had 0% incidence of any untoward neurological deficits after surgery (97.5% confidence interval [CI], 00%-25.5%), while 14% (95% CI, 11.5%-30.1%) of children who did fit criteria for IONM and had IONM had significant IONM changes. CONCLUSIONS: Through this case series, we describe our experience with the use of IONM and a novel care algorithm for guiding the anesthetic management of MPS patients undergoing nonspinal surgery. We conclude that they can be useful tools for provision of safe anesthetic care in this high-risk cohort.

Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: A retrospective cohort study.

BACKGROUND: Children suffering from mucopolysaccharidoses (subtypes I, II, III, IV, VI, and VII) or mucolipidoses often require anesthesia, but are at high risk for perioperative adverse events. However, the impact of the disease subtype and the standard of care for airway management are still unclear. AIMS: This study aimed to assess independent risk factors for perioperative adverse events in individuals with mucopolysaccharidoses/mucolipidoses and to analyze the interaction with the primary airway technique implemented. METHODS: This retrospective study included individuals with mucopolysaccharidoses/mucolipidoses who underwent anesthesia at two high-volume centers from 2002 to 2016. The data were analyzed in a multivariate hierarchical model, accounting for repeated anesthesia procedures within the same patient and for multiple events within a single anesthesia. RESULTS: Of 141 identified inpatients, 67 (63 mucopolysaccharidoses and 4 mucolipidoses) underwent 269 anesthesia procedures (study cases) for 353 surgical or diagnostic interventions. At least one perioperative adverse event occurred in 25.6% of the cases. The risk for perioperative adverse events was higher in mucopolysaccharidoses type I (OR 8.0 [1.5-42.7]; P = .014) or type II (OR 8.8 [1.3-58.6]; P = .025) than in type III. Fiberoptic intubation through a supraglottic airway was associated with the lowest risk for perioperative adverse events and lowest conversion rate. Direct laryngoscopy was associated with a significantly higher risk for airway management problems than indirect techniques (estimated event rates 47.8% vs 10.1%, OR 24.05 [5.20-111.24]; P < .001). The risk for respiratory adverse events was significantly higher for supraglottic airway (22.6%; OR 31.53 [2.79-355.88]; P = .001) and direct laryngoscopy (14.8%; OR 14.70 [1.32-163.44]; P = .029) than for fiberoptic intubation through a supraglottic airway (2.1%). CONCLUSIONS: The disease subtype and primary airway technique were the most important independent risk factors for perioperative adverse events. Our findings indicate that in MPS/ML children with predicted difficult airway indirect techniques should be favored for the first tracheal intubation attempt.

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance.

INTRODUCTION: Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressive nature of MPS VI necessitates a multidisciplinary team approach and there is a need for robust guidance to achieve optimal management. This programme was convened to develop evidence-based, expert-agreed recommendations for the general principles of management, routine monitoring requirements and the use of medical and surgical interventions in patients with MPS VI. METHODS: 26 international healthcare professionals from various disciplines, all with expertise in managing MPS VI, and three patient advocates formed the Steering Committee group (SC) and contributed to the development of this guidance. Members from six Patient Advocacy Groups (PAGs) acted as advisors and attended interviews to ensure representation of the patient perspective. A modified-Delphi methodology was used to demonstrate consensus among a wider group of healthcare professionals with expertise and experience managing patients with MPS VI and the manuscript has been evaluated against the validated Appraisal of Guidelines for Research and Evaluation (AGREE II) instrument by three independent reviewers. RESULTS: A total of 93 guidance statements were developed covering five domains: (1) general management principles; (2) recommended routine monitoring and assessments; (3) enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT); (4) interventions to support respiratory and sleep disorders; (5) anaesthetics and surgical interventions. Consensus was reached on all statements after two rounds of voting. The greatest challenges faced by patients as relayed by consultation with PAGs were deficits in endurance, dexterity, hearing, vision and respiratory function. The overall guideline AGREE II assessment score obtained for the development of the guidance was 5.3/7 (where 1 represents the lowest quality and 7 represents the highest quality of guidance). CONCLUSION: This manuscript provides evidence- and consensus-based recommendations for the management of patients with MPS VI and is for use by healthcare professionals that manage the holistic care of patients with the intention to improve clinical- and patient-reported outcomes and enhance patient quality of life. It is recognised that the guidance provided represents a point in time and further research is required to address current knowledge and evidence gaps.

Clinical Manifestations and Surgical Management of Spinal Lesions in Patients With Mucopolysaccharidosis: A Report of 52 Cases.

STUDY DESIGN: Descriptive retrospective cohort of 52 pediatric patients with mucopolysaccharidosis (MPS) and spinal cord disease and surgical outcomes in a reference hospital. OBJECTIVES: To describe clinical manifestations and surgical management and outcomes of spinal lesions. METHODS: All medical records of 52 patients with mucopolysaccharidosis (I, II, III, IV, and VI) diagnosed between 1992 and 2011 were identified and followed at a single spine center of a pediatric hospital. Demographic, clinical manifestations, spinal cord lesions, and surgical management were the focus of the descriptive report. RESULTS: A total of 52 patients (32 males and 20 females), mean age at diagnosis of 8 ± 4 years (range 1-19), and with a mean follow-up of 11 ± 8 years were identified. Forty-three had cervical disease (the most frequent affection found was odontoid hypoplasia followed by atlantoaxial instability) and 14 patients had thoracolumbar kyphosis. Twenty-one patients presented neurologic compromise before surgery (quadriparesis as the most frequent manifestation), with the progression of neurologic impairment being the most common surgical indication. Surgery was performed in 38 patients (25 cervical and 13 thoracolumbar). Of the 21 patients with preoperative neurologic deficit, 6 patients showed neurologic improvement. The most common surgical complication found was proximal junctional kyphosis. CONCLUSION: This is the largest series published of mucopolysaccharidosis pediatric patients with a surgically treated spinal condition. We recommend early spinal cord decompression in mucopolysaccharidosis spine pathology to prevent or potentially reverse neurologic impairment. LEVEL OF EVIDENCE: Level IV.

Stand-alone craniocervical decompression is feasible in children with mucopolysaccharidosis type I, IVA, and VI.

BACKGROUND CONTEXT: In patients with mucopolysaccharidosis (MPS), glycosaminoglycan deposits in the dura mater and supporting ligaments cause spinal cord compression and consecutive myelopathy, predominantly at the craniocervical junction. Disease characteristics of craniocervical stenosis (CCS) in patients with MPS differ profoundly from other hereditary and degenerative forms. Because of high periprocedural morbidity and mortality, patients with MPS pose a substantial challenge to the inexperienced medical care provider. As literature remains scarce, we present our experience with a large cohort of patients with MPS treated for CCS without atlanto-occipital instrumentation. PURPOSE: The present study aimed to describe a safe and least traumatic approach for treating CCS in children with MPS, avoiding primary instrumentation. STUDY DESIGN: This is a prospective follow-up (cohort) study. PATIENT SAMPLES: We report 15 consecutive patients with CCS related to MPS, who were treated with stand-alone cervical decompression. OUTCOME MEASURES: Myelopathy was assessed using magnetic resonance imaging (MRI), somatosensory evoked potentials, and clinical evaluation. Cervical instability was evaluated using plain x-ray and MRI. The disability status is quantified using either the Karnofsky or Lansky Performance Score. METHODS: We describe 15 consecutive patients treated with craniocervical decompression. Data were collected prospectively. The mean follow-up is 6 years (5 standard deviation). The technique and treatment principles are described. RESULTS: The overall clinical outcome in this patient cohort is good (mean Karnofsky Performance Score of 80). No patient developed signs of C0-C1-C2 instability or progressive myelopathy. Restenosis occurred in seven patients, requiring a total of eight reoperations. CONCLUSIONS: Surgery in patients with MPS is associated with high morbidity and mortality of up to 4.2%. Because of the unique nature of the disease, recurring stenosis is inevitable. To shorten the procedure time and simplify the anticipated reoperation, we provide data that craniocervical decompression is feasible without the necessity of primary osteosynthesis. In the absence of craniocervical instability, decompression surgery without occipitocervical stabilization yields good postoperative results and challenges the long-standing paradigm of prophylactic craniocervical fixation.

Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

INTRODUCTION: The precise incidence of hydrocephalus in patients with mucopolysaccharidoses (MPS) is hard to determine, because the condition lacks a formal, consensus-based definition. The diagnosis of hydrocephalus depends on symptom profile, presence of neuroimaging features, and the outcome of diagnostic tests. Although numerous techniques are used to identify MPS patients who are most likely to have hydrocephalus and respond to treatment, no definitive method exists to prove diagnosis. PURPOSE: The authors propose an algorithm to aid in the diagnosis and management of hydrocephalus in MPS patients. CONCLUSIONS: The theory of venous hypertension associated with the morphological changes in the skull base and craniocervical junction indicate the need for future neuroimaging studies including cerebrospinal fluid (CSF) and venous flow measurements to monitor hydrocephalus progression and select therapeutic interventions in MPS patients. Preoperative planning should also be based on the increased risk of intraoperative and postoperative hemorrhagic complications.

Outcomes of keratoplasty in the mucopolysaccharidoses: an international perspective.

OBJECTIVE: To describe visual outcomes after penetrating keratoplasty and deep anterior lamellar keratoplasty in patients with mucopolysaccharidoses. METHODS: This is a retrospective review of keratoplasty in consecutive patients from Brazil, England, Finland, Germany, Portugal, Sweden and the USA. All patients had corneal clouding due to mucopolysaccharidoses. Preoperative and postoperative visual outcome and ocular comorbidities were identified. Success was arbitrarily defined as any improvement in visual acuity or best-corrected visual acuity better than logarithm of the minimum angle of resolution 0.30 (20/40). Statistical analysis included only data from first operated eyes in the 16 patients who underwent bilateral keratoplasty. RESULTS: Forty-eight eyes from 32 patients with mucopolysaccharidoses I, IV or VI are reported. Mean follow-up was 70 months (range: 5-186). Penetrating keratoplasty was performed in 45 eyes and deep anterior lamellar keratoplasty in 3 eyes. At last follow-up, a successful visual outcome for penetrating keratoplasty in first operated/only operated eyes was found in 63%. Rejection episodes occurred in 23% of grafts; however, a clear graft was recorded at last follow-up in 94%. Ocular pathway comorbidities were identified in 63% of eyes transplanted. CONCLUSIONS: Clear corneal grafts can be obtained for patients with corneal clouding due to mucopolysaccharidosis with improvement in visual acuity in the majority.

Anestesia de urgencias en paciente adulto con síndrome de Sanfilippo / Emergency anaesthesia in adult patients with Sanfilippo syndrome

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Mucopolisacaridosis (síndrome de Hunter) / Mucopolysaccharidosis (Hunter syndrome)

Se realiza una presentación de un caso interesante, no comúnmente visto en la práctica médica, de unos de los tipos de mucopolisacaridosis, específicamente de un síndrome de Hunter. Se hace esta presentación con el objetivo de dar a conocer a estudiantes y profesionales de la salud, mediante fotos, las características físicas del paciente con dicho sídrome, quien llegó desnutrido al hospital; se le operó de la hernia umbilical y se mejoró su estado nutricional al compensarse su hepatopatía. Se le da el alta médica en mejores condiciones(AU)

We present here an interesting case of mucopolysaccharidoses, which is not commonly seen in medical practice, specifically a Hunter syndrome. This presentation is done in order to make known to students and health professionals, through photos, the physical characteristics of the patient with such syndrome. This patient arrived malnourished at the hospital, he was operated on the umbilical hernia and improved his nutritional status by compensating for his liver disease. This patient had medical discharge in better conditions(AU)

Adenoids of patients with mucopolysaccharidoses demonstrate typical alterations.

OBJECTIVE: Tonsillar hypertrophy caused by the progressive accumulation of partially degraded glycosaminoglycans (GAGs) within the cells is a typical symptom in patients with mucopolysaccharidoses (MPS). We studied the tissue of adenoids and tonsils of patients suffering from MPS with special regard to characteristic morphological features serving as possible markers for diagnosis. METHODS: Adenoids of 87 patients and tonsils of 4 patients with MPS (2 patients with MPS I, 7 MPS II, 5 MPS IV and 10 MPS VI and 63 controls) and controls were examined. Examinations were repeated in a blinded manner by two pathologists. RESULTS: The key feature observed was a subepithelial "clearing" on scanning magnification, induced by perivascular accumulation of histiocytoid cell forms. Similar agglomerates could sometimes be found at the base of lymphoid follicles. In the blinded assessment a specificity of 92% (100% for adenoids) and a sensitivity of 100% were achieved. The inter-observer-consistency was 92% (100% for adenoids). In tonsillectomy specimens marked subepithelilal fibrosis can lead to a false-negative evaluation. CONCLUSIONS: Qualified histological examination could be an option for early diagnosis of MPS.

CT and endoscopic evaluation of larynx and trachea in mucopolysaccharidoses.

BACKGROUND: Mucopolysaccharidoses (MPSs) are lysosomal storage disorders caused by lysosomal enzyme deficiencies that result in systemic accumulation of glycosaminoglycans (GAGs). Accumulation of GAGs in the upper airway can lead to respiratory failure. The aim of this study was to investigate changes of the airway by flexible endoscopy and CT. METHODS: Thirty-five patients aging from 2 to 16 years (mean: 9.2±4.4 years) participated in this study. The majority had MPS I (n=5) or MPS II (n=25). The shape of the trachea and the cross-sectional trachea surface area (TSA) was determined at the Th1 and Th2 levels. Airway obstruction was evaluated from endoscopic findings and classified into 3 grades (Grades 0, 1, and 2). Forty-five patients in the control group who underwent tracheal CT for other conditions were retrospectively selected from the database. RESULTS: Tracheal morphology was abnormal in 50-60%, which showed a transversely collapsing narrow trachea. Tracheal deformity was severe in MPS II and MPS IV. The mean TSA of the MPS patients was 55.5±29.0 mm(2) at Th1 and 61.4±29.0 mm(2) at Th2, while that of the control group was 90.1±41.9 mm(2) and 87.9±39.3 mm(2), respectively. Respiratory distress was noted in 15 of the 35 patients, among whom 7 patients showed tracheal deformity and 7 patients had laryngeal redundancy. Three patients had no abnormalities of the larynx or trachea, so other factors such as pharyngeal stenosis or lower airway stenosis might have contributed to their respiratory distress. CONCLUSION: CT and flexible endoscopy allow quantitative and morphological evaluation of airway narrowing, which is beneficial for airway management in MPS children.

Perioperative complications in patients diagnosed with mucopolysaccharidosis and the impact of enzyme replacement therapy followed by hematopoietic stem cell transplantation at early age.

BACKGROUND: Mucopolysaccharidoses (MPS) are hereditary storage diseases; airway management typically worsens in these patients with the progression of the disease. OBJECTIVE(S): To assess the incidence of perioperative complications in children with MPS and the impact of enzyme replacement therapy (ERT) followed by hematopoietic stem cell transplantation (HSCT). METHODS: The records of patients with MPS treated with ERT followed by HSCT, who received anesthesia at the Wilhelmina Children's Hospital between 2003 and 2012, were reviewed. Data were collected on incidence of perioperative respiratory and cardiovascular complications and the impact of treatment and age. RESULTS: Nineteen children with MPS were identified (including 17 Hurler patients), who received ERT treatment followed by HSCT. Median age at start of treatment was 14 (range: 7-43) months. Patients were anesthetized 136 times. The incidence of respiratory and cardiovascular complications was 24% and 4%, respectively. Airway management by face mask was difficult in 7%. There were no problems with the laryngeal mask airway. Tracheal intubation was difficult in 25% and failed in 10%; using a video laryngoscope was most successful (89%), followed by classic laryngoscope (67%) and fiber-optic scope (20%). Multivariate logistic regression analyses showed that the incidence of perioperative respiratory problems did not increase with age or decrease after start of treatment. CONCLUSION: Perioperative airway management was most successful using a laryngeal mask airway or video laryngoscope. Treatment with ERT followed by HSCT and patient age did not influence the incidence of perioperative respiratory problems.

Feasibility of cochlear implantation in Mucopolysaccharidosis.

UNLABELLED: Mucopolysaccharidoses (MPS) are a group of rare inherited metabolic disorders resulting from deficiencies of particular enzymes involved in the breakdown of glycosaminoglycans. Amongst the manifestations of MPS within the head and neck patients may develop conductive, mixed or sensorineural hearing loss. OBJECTIVE: The main objective of this paper is to describe the management of profound sensorineural hearing loss in children with Mucopolysaccaridosis. The primary outcome measures for this case series were improvement in auditory performance and speech perception scores following cochlear implantation. Secondary outcome measures included surgical complications. METHODS: We carried out a casenote review of the first two cases of cochlear implantation (CI) to rehabilitate profound sensory neural hearing loss in Mucopolysaccharidoses. Improvement in auditory performance was measured by categories of auditory performance (CAP) score, speech reception score (SRS) and the IHR McCormick toy discrimination test. RESULTS: Both patients with MPS had demonstrable benefit from CI in terms of auditory performance and speech perception. The first patient improved from pre-operatively only managing to recognise environmental sounds to understanding conversation without lip-reading with a familiar talker. Following CI, the second patient can discriminate speech in noisy environments to a degree, without lip-reading. No peri-operative complications were noted in either patient. CONCLUSION: As the medical management of the MPS has progressed there is likely to be a corresponding increase in survival. This increased life-expectancy will likely lead to greater numbers of patients with MPS surviving long enough to develop profound hearing loss. Likewise, when considering the risks and benefits of quality of life interventions such as CI in patients with MPS, it is more likely that the risks of surgery and general anaesthesia will be considered acceptable. Clinicians managing such patients will need to be aware of these developments.