Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation

Yliranta, Aino; Mäkinen, Jussi

doi:10.1080/13554794.2020.1856384

Cited by 3 publications

(1 citation statement)

References 13 publications

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“…Cerebellar ataxia is a common neurological symptom; cerebellar and cerebral atrophy may be observed later in the disease course (Fig. 1f) [5–7,20 ▪▪ ,21]. In some severe cases, patients present with a parkinsonism phenotype [5,22].…”

Section: Clinical Manifestationsmentioning

confidence: 99%

Chediak-Higashi syndrome

Talbert

Malicdan

Introne

2023

Current Opinion in Hematology

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Purpose of reviewChediak-Higashi syndrome is a rare autosomal recessive disorder characterized by congenital immunodeficiency, bleeding diathesis, pyogenic infection, partial oculocutaneous albinism, and progressive neurodegeneration. Treatment is hematopoietic stem cell transplantation or bone marrow transplantation; however, this does not treat the neurologic aspect of the disease. Mutations in the lysosomal trafficking regulator (LYST) gene were identified to be causative of Chediak-Higashi, but despite many analyses, there is little functional information about the LYST protein. This review serves to provide an update on the clinical manifestations and cellular defects of Chediak-Higashi syndrome. Recent findingsMore recent papers expand the neurological spectrum of disease in CHS, to include hereditary spastic paraplegia and parkinsonism. Granule size and distribution in NK cells have been investigated in relation to the location of mutations in LYST. Patients with mutations in the ARM/HEAT domain had markedly enlarged granules, but fewer in number. By contrast, patients with mutations in the BEACH domain had more numerous granules that were normal in size to slightly enlarged, but demonstrated markedly impaired polarization. The role of LYST in autophagosome formation has been highlighted in recent studies; LYST was defined to have a prominent role in autophagosome lysosome reformation for the maintenance of lysosomal homeostasis in neurons, while in retinal pigment epithelium cells, LYST deficiency was shown to lead to phagosome accumulation. SummaryDespite CHS being a rare disease, investigation into LYST provides an understanding of basic vesicular fusion and fission. Understanding of these mechanisms may provide further insight into the function of LYST.

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Section: Clinical Manifestationsmentioning

confidence: 99%

Chediak-Higashi syndrome

Talbert

Malicdan

Introne

2023

Current Opinion in Hematology

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Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Saiz-Sierra,

Marull Arnall,

Nieto-Moragas

et al. 2024

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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Objectives Giant inclusions in leukocytes is a common feature that can be observed in some infections but can be also related to rare genetic disorders such as Chédiak-Higashi syndrome (CHS). A differential diagnosis between these groups of diseases has to be performed using specific genetic tests. Clinical and pathological history is relevant for a diagnostic orientation due to the difficulty and specificity of the diagnostic confirmation. Case presenation We present the case of a 3-years-old male patient with recurrent respiratory infections. It is important to highlight the presence of a lock of white hair on the front of the head and some hypopigmentation of the skin. In the blood smear, the presence of big cytoplasm granules in all the leukocytes, especially in neutrophils. Conclusions CHS is an uncommon genetic disorder caused by the mutation in the LYST gene situated in chromosome 1q42.3 which codified for LYST protein. Molecular genetic testing also can be done to detect the biallelic variants in the LYST gene. It is essential to perform peripheral blood smears in the presence of changes in quantitative and/or qualitative values in the complete blood count as a first step in the diagnosis algorithm.

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Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso

Saiz-Sierra,

Marull Arnall,

Nieto-Moragas

et al. 2024

Advances in Laboratory Medicine / Avances en Medicina De Laboratorio

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Resumen Objetivos En algunos casos de infecciones, es frecuente observar inclusiones gigantes en los leucocitos. Sin embargo, estas inclusiones también pueden estar relacionadas con trastornos genéticos raros, como el síndrome de Chédiak–Higashi (SCH). Para realizar un diagnóstico diferencial entre estos grupos de patologías, es necesario realizar estudios genéticos específicos. Dada la dificultad y especifidad de la confirmación diagnóstica, es esencial analizar los antecedentes clínicos y patológicos del paciente, con el fin de obtener una orientación diagnóstica. Caso clínico Presentamos el caso de un paciente de tres años de edad con infecciones respiratorias recurrentes. Cabe señalar la presencia de un mechón de cabello blanco en la parte frontal de la cabeza, así como algunas áreas de hipopigmentación en la piel. En el frotis sanguíneo, destacó la presencia de grandes gránulos citoplasmáticos en todos los leucocitos, especialmente en los neutrófilos. Conclusiones El SHC es un trastorno genético poco frecuente, causado por una mutación en el gen LYST situado en el cromosoma 1q42.3, que codifica la proteína LYST. También se puede realizar un estudio genético molecular para detectar las variantes bialélicas del gen LYST. Ante resultados alterados en los valores cuantitativos y/o cualitativos en el hemograma completo, el primer paso del algoritmo diagnóstico incluye realizar un frotis de sangre periférica.

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Chediak-Higashi syndrome: neurocognitive and behavioral data from infancy to adulthood after bone marrow transplantation

Cited by 3 publications

References 13 publications

Chediak-Higashi syndrome

Chediak-Higashi syndrome

Detection of giant cytoplasmic inclusions in a pediatric patient with recurrent infections: a case report

Detección de inclusiones citoplasmáticas gigantes en un paciente pediátrico con infecciones recurrentes: a propósito de un caso

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