Children with mucopolysaccharidosis: Perioperative care, morbidity, mortality, and new findings

doi:10.1016/0022-3468(93)90240-L

Journal of Pediatric Surgery

Volume 28, Issue 3, March 1993, Pages 403-410

https://doi.org/10.1016/0022-3468(93)90240-L Get rights and content

Abstract

The perioperative care, morbidity, and mortality in 30 patients with mucopolysaccharidosis (MPS) are presented. They underwent a detailed preoperative assessment and were anesthetized 141 times. An intravenous induction technique was used in most patients. It was easier to see the vocal cords, during laryngoscopy, in children with Hurler syndrome (HS) when they were younger (23 v 41 months, P ≤ .01) and smaller (12 v 15 kg, P ≤ .05). Preoperative obstructive breathing was associated with a significantly higher incidence of postextubation obstruction (P ≤ .05). A total of 28 children underwent bone marrow transplantation (BMT); this reversed upper airway obstruction and also reversed intracranial hypertension. In children with HS, the incidence of odontoid dysplasia was 94%; 38% demonstrated anterior C₁C₂ subluxation. Head and neck manipulation was limited in children with cervical spine defects. None of the 30 patients experienced spinal cord morbidity. One child suffered an intraoperative stroke; another, pulmonary edema. Severe and extensive coronary obstruction was responsible for 2 intraoperative deaths. Coronary angiography underestimated coronary artery disease.

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Eight of the 13 tracheas were abnormal, either U-shaped or worm-shaped. MPS patients with the history of OSA are at increased risk for airway emergencies during anesthesia, particularly during the induction of anesthesia and following extubation.25 Cardiac involvement typically starts with valvular involvement of mitral and aortic valves manifesting in regurgitation and/or stenosis.26
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2020, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders
The mucopolysaccharidoses (MPSs) are inherited disorders of the metabolism of the glycosaminoglycans (GAGs), caused by the deficiency of enzymes involved in the stepwise degradation of these compounds. Being the GAGs a major component of the extracellular matrix of the connective tissue, its storage leads to a multisystem disorder. Eleven subtypes of MPS have been described so far, being all chronic and progressive, having a wide range of clinical manifestations and a broad spectrum of severity in each type. The disease generally presents in one of the three ways depending on the specific enzyme that is defective: (1) A dysmorphic syndrome (e.g., MPS types I, II, VI, or VII); (2) behavioral disturbances, neurodegeneration, and dementia (MPS III); (3) a severe bone dysplasia (MPS IV). In most cases, diagnosis initially depends on clinical suspicion, followed by demonstration of increased levels and/or abnormal pattern of GAGs in urine. The clinical picture combined with the pattern of urinary GAG excretion usually guides the laboratory to define which specific enzymes should be analyzed in order to identify the deficiency and elucidate the diagnosis. Mutation analyses are recommended to pinpoint the specific genetic defects causing the disorder. Although no cure exists for the MPSs, several treatment approaches are available or under investigation. Management is multidisciplinary and includes palliative care, surgeries, cell-based therapy (bone marrow or umbilical cord blood transplantation) and enzyme replacement therapy (ERT). Manifestations involving the skeleton and particularly the central nervous system (CNS) are the most challenging to treat, but newer therapeutic approaches (e.g., substrate reduction, Trojan horse ERT, intrathecal (IT)/ intracerebroventricular ERT, stop codon read-through, gene therapy, gene editing, etc.) are in development and may change the outcome of these disorders in a near future. Carrier identification and prenatal diagnosis are available for all of these disorders, and newborn screening (NBS) is already being conducted as part of regular programs for MPS I and MPS II in some places, and is under investigation for other treatable MPSs.
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This chapter reviews the developmental anatomy and physiology of the pediatric upper airway as it relates to the practice of pediatric anesthesia. Differences between the pediatric and adult airways are important determinants of anesthetic techniques. Knowledge of normal developmental anatomy and physiologic function is required to understand and manage both the normal and the pathologic airways of infants and children. Techniques of mask ventilation, oral and nasal airway placement, use of supraglottic devices, and tracheal intubation are reviewed for normal and anatomically abnormal pediatric patients.
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Citation Excerpt :
Anesthesia in individuals with MPS should be regarded with extreme respect. The difficulties of anesthesia in this population include significant upper airway obstruction, tracheomalacia and tracheal stenosis [158]. Most affected children have odontoid hypoplasia, with subluxation, thus preventing usual head positioning required for visualization of the vocal cords at intubation.
Mucopolysaccharidosis IVA (MPS IVA; Morquio A: OMIM 253000) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase. Deficiency of this enzyme leads to accumulation of specific glycosaminoglycans (GAGs): chondroitin-6-sulfate (C6S) and keratan sulfate (KS). C6S and KS are mainly produced in the cartilage. Therefore, the undegraded substrates are stored primarily in cartilage and in its extracellular matrix (ECM), leading to a direct impact on cartilage and bone development, and successive systemic skeletal dysplasia. Chondrogenesis, the earliest phase of skeletal formation, is maintained by cellular interactions with the ECM, growth and differentiation factors, signaling pathways, and transcription factors in a temporal-spatial manner. In patients with MPS IVA, the cartilage is disrupted at birth as a consequence of abnormal chondrogenesis and/or endochondral ossification. The unique skeletal features are distinguished by a disproportional short stature, odontoid hypoplasia, spinal cord compression, tracheal obstruction, pectus carinatum, kyphoscoliosis, platyspondyly, coxa valga, genu valgum, waddling gait, and laxity of joints. In spite of many descriptions of these unique clinical features, delay of diagnosis still happens. The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.
In this review article, we comprehensively describe historical aspect, property of GAGs, diagnosis, screening, pathogenesis, and current and future therapies of MPS IVA.

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Presented at the 23rd Annual Meeting of the American Pediatric Surgical Association, Colorado Springs, May 13–16, 1992.

Supported in part by NIH/NINDS grant numbers RO1 NS 29099-01A and RO1 DK-39891, and the Anesthesia Research Fund through the Minnesota Medical Foundation.

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Children with mucopolysaccharidosis: Perioperative care, morbidity, mortality, and new findings☆

Abstract

J Pediatr Surg

Am J Cardiol

Anaesthetic considerations in the mucopolysaccharidoses

Anaesthesia

Anaesthetic implications of the mucopolysaccharidoses: A fifteen-year experience in a children's hospital

Anaesth Intens Care

Bone marrow transplantation for storage disease

Lysosomal storage diseases

State of the art review: Bone marrow transplantation-treatment for storage diseases

Bone Marrow Transplant

Anesthesia for Infants and Children

Sleep disordered breathing in mucopolysaccharide storage disorders

Sleep Res

Venous access for hemodialysis in children: Right atrial cannulation