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Case Reports
. 2022 Apr 7;10(4):e05688.
doi: 10.1002/ccr3.5688. eCollection 2022 Apr.

On the edge-A diagnostic odyssey

Hailey McLean  1 , Rachel Palmquist  2 , Lincoln D Nadauld  3 , Sabrina Malone Jenkins  4 , Joshua Bonkowsky  2 , Francis Filloux  2
Affiliations
Case Reports

On the edge-A diagnostic odyssey

Hailey McLean et al. Clin Case Rep. .

Abstract

The diagnostic odyssey of a child with epileptic encephalopathy was resolved by rapid whole genome sequencing. This identified a rare form of pyridoxine responsive epilepsy due to a pathogenic variant in PLPBP. Access to such potentially life-changing diagnostic technology needs to expand in a thoughtful and equitable manner.

Keywords: PLPBP; diagnostic odyssey; narrative medicine; pyridoxine responsive seizures.

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Conflict of interest statement

None.

Figures

FIGURE 1
FIGURE 1
Cammdon at 3 and a half years of age, 2 months before his final hospitalization
See this image and copyright information in PMC

References

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