Niemann‐Pick disease: a rare problem in anaesthesiological practice

Bujok, Lilianna-Szuba; Bujok, Grzegorz; Knapik, Piotr

doi:10.1046/j.1460-9592.2002.00922.x

Cited by 13 publications

(9 citation statements)

References 5 publications

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“…Although the child had mild elevation of liver enzymes, acetaminophen was preferred as a short-term analgesic. Use of atracurium, midazolam, sevoflurane and fentanyl has been described in the management of anesthesia in a 2-year-old patient with presumable NPA presenting for emergency splenectomy 4 . The child had severe hepatosplenomegaly, ventilation improved after splenectomy and the child required a post-operative ICU stay for 9 days.…”

Section: Discussionmentioning

confidence: 99%

“…People with NPD type A (NPA; generally a very rare presentation of NPD) have little or no ASM production (less than 1% of normal) while those with NPD type B (the most frequent presentation of NPD) have approximately 10% of the normal level of ASM. There is no information on the anesthetic management of a patient with fully genetically characterized and biochemically confirmed NPA, and only one previous report describing a pediatric patient with presumably diagnosed NPA 4 . In this case report, we describe the genetic background, pathophysiology and anesthetic-related problems in a patient with NPA who presented for surgery.…”

Section: Introductionmentioning

confidence: 99%

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Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

et al. 2015

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A 14-month-old child, recently diagnosed with Niemann-Pick disease type A, presented for a laparoscopic placement of a gastrostomy tube under general anesthesia. The disease was confirmed and further characterized by genetic testing, which revealed evidence of the presence of two known pathogenic mutations in the SMPD1 gene, and enzyme studies showed a corresponding very low level of enzymatic activity of acidic sphingomyelinase. The anesthetic management involved strategies to manage an anticipated difficult intubation and avoid post-operative ventilation.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

et al. 2015

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“…Nevertheless, literature on anaesthetic implications on NP-C patients is scarce and few cases have been published [2][3][4]. Hence, this case-report describes the anaesthetic management of a NP-C patient in a terminal progression state.…”

Section: Introductionmentioning

confidence: 95%

Ambulatory Anaesthesia in a Patient with Niemann-Pick Disease Type C

Araújo¹

2015

J Anesth Clin Res

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Niemann-Pick disease type C is an autosomal recessive lysosomal storage disorder that is characterized by severe visceral and neurologic involvement. The age of clinical onset diverges widely and the patients can present with a wide-ranging spectrum of signs and symptoms.As literature on anaesthetic implications of these patients is scarce, we analysed the anaesthetic management of a 20-year old patient in a terminal progression state of the disease. The patient was admitted at our hospital for elective bilateral submandibular sialoadenectomy owing to chronic sialorrhea.The difficulties and challenges arising during the anaesthetic procedure are discussed and a comprehensive analysis regarding the decision of discharging the patient at the same day of the procedure is also performed.The main important directives for safe anesthetic management in Niemann-Pick disease type C patients are indicated with particular relevance being attributed to the anticipation and evaluation of each case individually.

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“…An analogous anesthetic management experience exists during intrathecal injections of nusinersen for the treatment of Spinal Muscular Atrophy. The publication of clinical trial experience from a phase‐1 open label study of intrathecal nusinersen injection demonstrated that safe anesthesia was accomplished utilizing various combinations of intravenous benzodiazepines, narcotics, ketamine, propofol, and/or inhaled volatile anesthetics, although infusions for nusinersen were not as frequent or as numerous as required for2‐hydroxypropyl‐beta‐cyclodextrin in Niemann‐Pick disease type C 1,5‐8 …”

Section: Introductionmentioning

confidence: 99%

Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection

Ulloa

Froyshteter

Kret

et al. 2020

Pediatric Anesthesia

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Background Niemann‐Pick disease type C is an autosomal‐recessive, lysosomal storage disorder with variable age of onset and a heterogeneous clinical presentation that includes neurological, psychiatric, and visceral findings. Serial intrathecal injections of 2‐hydroxypropyl‐beta‐cyclodextrin are being evaluated as a treatment modality for Niemann‐Pick disease type C with a subset of patients requiring anesthesia for this procedure. Aims The aim of this study was to evaluate the safety of anesthesia provided for patients undergoing intrathecal injection of 2‐hydroxypropyl‐beta‐cyclodextrin. Methods A retrospective review of pediatric patients who received serial intrathecal injections of 2‐hydroxypropyl‐beta‐cyclodextrin with anesthesia at two tertiary care centers was conducted from December 2015 through April 2019. Data were extracted for analysis included preoperative comorbidities, demographics, vital signs, intraoperative anesthesia course, airway management technique, venous access, postoperative course, and perioperative complications. In total, 19 patients were identified and a total of 394 anesthetic encounters were included in this study. Results All 394 2‐hydroxypropyl‐beta‐cyclodextrin administration procedures were successfully performed, and there were no changes made in the anesthetic plan during the anesthesia encounters. Three hundred forty‐nine anesthetics were performed utilizing inhalation induction and mask maintenance, and 45 anesthetics were performed with placement of a supraglottic airway device due to patient body habitus and provider preference. The incidence of a major adverse event (aspirations, arterial desaturation) was 5/394 (1.3%, 95% CI 0.05%‐3.1%). Minor adverse events (emesis, delirium, hypotension, seizure, and airway obstruction) were observed in 19/394 encounters (4.8%, 95% CI 3.0%‐7.5%). Conclusions Our findings suggest that general anesthesia induced via inhalation induction and maintained with volatile anesthetic via mask or supraglottic airway is a safe and effective option for pediatric patients with Niemann‐Pick disease type C undergoing serial intrathecal injections of 2‐hydroxypropyl‐beta‐cyclodextrin, supporting this technique as a viable option for anesthetic care in these patients.

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Niemann‐Pick disease: a rare problem in anaesthesiological practice

Cited by 13 publications

References 5 publications

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

Case Report: Genetic analysis and anesthetic management of a child with Niemann-Pick disease Type A

Ambulatory Anaesthesia in a Patient with Niemann-Pick Disease Type C

Anesthetic management of pediatric patients with Niemann‐Pick disease type C for intrathecal 2‐hydroxypropyl‐β‐cyclodextrin injection

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