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

Abstract

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.

2022 American Society of Anesthesiologists Practice Guidelines for Management of the Difficult Airway *

“…Case reports observed videolaryngoscope intubation successes with a wide range of difficult airway conditions (Category B4-B evidence ). 160,276–297 Adverse outcomes that may occur include sore throat, laryngospasm, lip, dental, or mucosal injuries ( Category B4-H evidence ). 278,298…”

Anesthetic Management in a Child With Niemann-Pick Disease

“…It should be noted that none of our chosen medications negatively impact renal function. In Niemann-Pick type A, it is better to avoid the use of a muscle relaxant due to the neurologic involvement ( 6 ), so we decided to insert the LMA under deep inhalational anesthesia without muscle paralysis.…”

“…Due to the complex clinical progression and multi-organ involvement, the anesthetic management of Niemann-Pick patients is challenging. However, only a few articles are available concerning the anesthetic implications of such patients ( 1 , 5 , 6 ). Hence, in this case report we describe the anesthetic management of a Niemann-Pick patient.…”