scholarly journals General Anesthesia Management for Adult Mucopolysaccharidosis Patients Undergoing Major Spine Surgery

2019 ◽  
Vol 28 (6) ◽  
pp. 581-585 ◽  
Author(s):  
Masahiko Tsuchiya ◽  
Hidetomi Terai ◽  
Koh Mizutani ◽  
Yusuke Funai ◽  
Katsuaki Tanaka ◽  
...  
Keyword(s):  
General Anesthesia ◽  
Spine Surgery ◽  
Lysosomal Storage Diseases ◽  
Video Laryngoscopy ◽  
Major Surgery ◽  
Fiberoptic Intubation ◽  
Lysosomal Storage ◽  
Anesthesia Management ◽  
Awake Fiberoptic Intubation ◽  
Severe Airway Obstruction

Objective: Mucopolysaccharidosis (MPS) are a group of rare systemic lysosomal storage diseases associated with severe airway obstruction and cardiac disease, making anesthesia management difficult. Contemporary treatment extends the lifespan of affected individuals, increasing the need for major surgery in adulthood. Clinical Presentation and Intervention: We provided general anesthesia for 6 adult MPS patients undergoing spine surgery. The airway was assessed as difficult in all, with 2 receiving awake fiberoptic intubation and 1 successfully undergoing video-laryngoscopy, while 3 video-laryngoscopy procedures failed and required conversion to fiberoptic intubation. One patient developed ventricular fibrillation. Conclusion: Adult MPS patients have substantial anesthesia risk.

scholarly journals Anesthetic management of an achondroplastic dwarf with difficult airway and kyphoscoliosis for total abdominal hysterectomy

2021 ◽  
Vol 8 (3) ◽  
pp. 475-478
Author(s):  
Tejaswini L Phalke ◽  
Jyoti P Deshpande ◽  
Jyoti H Kale ◽  
Madhavi R Godbole
Keyword(s):  
General Anesthesia ◽  
Difficult Airway ◽  
Total Abdominal Hysterectomy ◽  
Abdominal Hysterectomy ◽  
Neurological Injury ◽  
Fiberoptic Intubation ◽  
Short Neck ◽  
Neck Movement ◽  
Neck Extension ◽  
Awake Fiberoptic Intubation

Achondroplasia is a common form of dwarfism and possesses multiple anesthetic challenges including securing of intravenous line, monitoring and calculating drug dosage, spine abnormality, difficulty in mask ventilation and endotracheal intubation, obesity, cardiopulmonary and neurological system abnormality. There is multiple systems involvement, therefore thorough preanesthetic check ups, investigations and planning for anesthesia is important. Here we came across 36 years old female patient, achondroplasic dwarf (height- 100cm) with thoracolumbar kyphoscoliosis, fused cervical spine, short neck and restricted neck movement with mild pulmonary restrictive disease for total abdominal hysterectomy. Patient also had complained of generalized weakness and fatigue. She had a limited neck extension and short neck possesses anticipated difficult intubation, therefore we planned awake fiberoptic intubation with smaller size endotracheal tube for airway management and general anesthesia in a patient with difficult airway and spine for total abdominal hysterectomy. As the spread of the drug in regional anesthesia is unpredicted, we planned general anesthesia with awake fiberoptic intubation to avoid the risk of neurological injury while extending the neck during laryngoscopy for tracheal intubation due to restricted neck movement.

Electron Microscopy in the diagnosis of lysosomal storage diseases

1989 ◽  
Vol 47 ◽  
pp. 866-867
Author(s):  
Carole Vogler ◽  
Harvey S. Rosenberg
Keyword(s):  
Electron Microscopy ◽  
Lysosomal Enzyme ◽  
Rectal Mucosa ◽  
Lysosomal Storage Diseases ◽  
Cell Types ◽  
Lysosomal Storage ◽  
Storage Material ◽  
Ultrastructural Examination ◽  
Blood Leukocytes ◽  
Storage Diseases

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to study tissue from patients with suspected LSD. In patients with LSD all cells lack the specific lysosomal enzyme but the distribution of storage material is dependent on the extent of catabolism of the substrate in each cell type under normal circumstances. Lysosmal storages diseases affect many cell types and tissues. Storage material though does not accumulate in all tissues and cell types and may be different biochemically and morphologically in different tissues.Conjunctiva, skin, rectal mucosa and peripheral blood leukocytes may show ultrastructural evidence of lysosomal storage even in the absence of clinical findings and thus any of these tissues can be used for ultrastructural examination in the diagnostic evaluation of patients with suspected LSD. Biopsy of skin and conjunctiva are easily obtained and provide multiple cell types including endothelium, epithelium, fibroblasts and nerves for ultrastructural study. Fibroblasts from skin and conjunctiva can also be utilized for the initiation of tissue cultures for chemical assays. Brain biopsy has been largely replaced by biopsy of more readily obtained tissue and by biochemical assays. Such assays though may give equivical or nondiagnostic results and in some lysosomal storage diseases an enzyme defect has not yet been identified and diagnoses can be made only by ultrastructural examination.

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