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

Priti G. Dalal; Melissa Coleman; Meagan Horst; Dorothy Rocourt; Roger L. Ladda; Piotr K. Janicki

doi:10.12688/f1000research.7470.1

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

Priti G. Dalal, Melissa Coleman, Meagan Horst, Dorothy Rocourt, Roger L. Ladda, Piotr K. Janicki

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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.

Original language	English (US)
Article number	1423
Journal	F1000Research
Volume	4
DOIs	https://doi.org/10.12688/f1000research.7470.1
State	Published - 2015

All Science Journal Classification (ASJC) codes

Biochemistry, Genetics and Molecular Biology(all)
Immunology and Microbiology(all)
Pharmacology, Toxicology and Pharmaceutics(all)

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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.",

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AU - Ladda, Roger L.

AU - Janicki, Piotr K.

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

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