Crissia Malta1, Pedro Correa1, Ilana Cwajgenberg1, Gabriel Meyas1, Renan Mancini1, João Tuler1
1UERJ
Objective:
To describe an adult case of genetically confirmed CHS with predominant neurological features, emphasizing the diagnostic challenges and the importance of multidisciplinary evaluation in atypical presentations.
Background:
Chediak-Higashi Syndrome (CHS) is an exceedingly rare autosomal recessive disorder caused by mutations in the LYSTgene, classically characterized by oculocutaneous albinism, immunodeficiency, and progressive neurological decline. Fewer than 500 cases have been reported worldwide, and adult-onset presentations are exceptionally uncommon and often underrecognized.
Design/Methods:
A 35-year-old Brazilian man with childhood-onset hypopigmentation, grayish hair, and learning difficulties later developed recurrent infections, progressive paraparesis, global areflexia, ataxia, and bilateral vision loss. His 30-year-old sister presented similar manifestations. Comprehensive neurological, dermatological, hematological, and genetic assessments were performed.
Results:
Neurological examination showed severe sensorimotor polyneuropathy and cerebellar ataxia. Brain MRI demonstrated cortical and cerebellar atrophy. Peripheral blood smear revealed giant cytoplasmic granules in leukocytes, pathognomonic of CHS. Genetic testing confirmed a LYST gene mutation in both siblings. Despite supportive management, neurological symptoms progressed, while infection control improved with prophylactic measures.
Conclusions:
Adult-onset CHS represents a diagnostic blind spot in neurology, as neurodegenerative symptoms may dominate while immunologic and pigmentary signs remain subtle. Early recognition of hematologic and dermatologic clues is essential for accurate diagnosis, infection prevention, and genetic counseling. This case broadens the phenotypic spectrum of CHS and underscores the need for neurologists to consider lysosomal trafficking disorders in adults with unexplained neurodegeneration and pigmentary changes. Integrating peripheral blood smear and genetic testing can close a critical diagnostic gap and improve patient outcomes.
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