PURPOSE: To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness. CLINICAL FEATURES: A 14-yr-old girl with JBD was scheduled for resection of a gingival tumour and an infected sinus in the sacral area. Her preanesthetic examination revealed extreme muscle atrophy and dementia. Grand mal, myoclonic seizures, and upper airway obstruction were frequent. Following iv induction with thiamylal, anesthesia was maintained with sevoflurane, N(2)O and O(2). Her trachea was intubated without using muscle relaxants. Muscle relaxants were not used during the operation. Apart from an intractable hypothermia, the intraoperative course was uneventful. The emergence of anesthesia was smooth, except for persisting seizures. CONCLUSION: General anesthesia using thiamylal and sevoflurane provided satisfactory conditions during operation in a patient with JBD. Intraoperative hypothermia required particular attention.
PURPOSE: To describe the anesthetic management of a patient with Jansky-Bielschowsky disease (JBD), the late infantile form of neuronal ceroid lipofuscinosis, characterized by dementia, severe and drug resistant grand mal, myoclonic seizures, and blindness. CLINICAL FEATURES: A 14-yr-old girl with JBD was scheduled for resection of a gingival tumour and an infected sinus in the sacral area. Her preanesthetic examination revealed extreme muscle atrophy and dementia. Grand mal, myoclonic seizures, and upper airway obstruction were frequent. Following iv induction with thiamylal, anesthesia was maintained with sevoflurane, N(2)O and O(2). Her trachea was intubated without using muscle relaxants. Muscle relaxants were not used during the operation. Apart from an intractable hypothermia, the intraoperative course was uneventful. The emergence of anesthesia was smooth, except for persisting seizures. CONCLUSION: General anesthesia using thiamylal and sevoflurane provided satisfactory conditions during operation in a patient with JBD. Intraoperative hypothermia required particular attention.
Authors: Ning Miao; Sondra W Levin; Eva H Baker; Rafael C Caruso; Zhongjian Zhang; Andrea Gropman; Deloris Koziol; Robert Wesley; Anil B Mukherjee; Zenaide M N Quezado Journal: Anesth Analg Date: 2009-08 Impact factor: 5.108
Authors: Sara E Mole; Angela Schulz; Eben Badoe; Samuel F Berkovic; Emily C de Los Reyes; Simon Dulz; Paul Gissen; Norberto Guelbert; Charles M Lourenco; Heather L Mason; Jonathan W Mink; Noreen Murphy; Miriam Nickel; Joffre E Olaya; Maurizio Scarpa; Ingrid E Scheffer; Alessandro Simonati; Nicola Specchio; Ina Von Löbbecke; Raymond Y Wang; Ruth E Williams Journal: Orphanet J Rare Dis Date: 2021-04-21 Impact factor: 4.123