When the Clues Are Subtle: Diagnosing Chediak-Higashi Syndrome (P2-7.014)

Crissia Malta; Pedro Correa; Ilana Cwajgenberg; Gabriel Meyas; Renan Mancini; João Tuler

doi:10.1212/wnl.0000000000217103

June 9, 2026Neurology

When the Clues Are Subtle: Diagnosing Chediak-Higashi Syndrome (P2-7.014)

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Key Points

This case aims to highlight the complexities in diagnosing Chediak-Higashi syndrome due to its atypical presentation.
Description of an adult case with confirmed genetic diagnosis of Chediak-Higashi syndrome.
Emphasis on neurological features observed in the case.
Discussion of the role of multidisciplinary evaluation in diagnosis.
Successful genetic confirmation of Chediak-Higashi syndrome.
Identification of predominant neurological features as diagnostics.
Highlighting the need for collaborative approaches in atypical presentations.

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Implication

Case report describes diagnostic challenges of Chediak-Higashi syndrome with neurological features, highlighting the need for multidisciplinary evaluation.

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Cite This Study

Malta et al. (2026) studied this question.

synapsesocial.com/papers/6a2cf34dfaef96ed7f055db2 https://doi.org/10.1212/wnl.0000000000217103

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When the Clues Are Subtle: Diagnosing Chediak-Higashi Syndrome (P2-7.014)

Key Points

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Implication

Abstract

Discussion

Cite This Study

When the Clues Are Subtle: Diagnosing Chediak-Higashi Syndrome (P2-7.014)

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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