Cerebral amebiasis due to Acanthamoeba sp. in a patient with complete gp91phox deficiency

TL;DR

A patient with a genetic deficiency in gp91phox developed brain abscesses from Acanthamoeba, highlighting the need for immune system evaluation in such infections.

Contribution

This case report highlights a rare connection between gp91phox deficiency and cerebral amebiasis, emphasizing the importance of immune evaluation in similar cases.

Findings

A patient with complete gp91phox deficiency developed multiple cerebral abscesses caused by Acanthamoeba sp.

Invasive parasitic infections can reveal underlying phagocytic defects, necessitating prompt immunological and genetic evaluation.

Abstract

Rare variants in CYBB (encoding gp91phox) are responsible for chronic granulomatous disease. We report a patient affected by multiple cerebral abscesses caused by Acanthamoeba sp. and complete gp91phox deficiency. The respiratory burst evaluation is recommended in any child with a deep abscess.

A patient diagnosed with chronic granulomatous disease due to complete gp91phox deficiency developed multiple cerebral abscesses caused by Acanthamoeba species. This case highlights that invasive parasitic infections can reveal underlying phagocytic defects and underscores for prompt immunological and genetic evaluation in such situations.

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