Motor neuronopathy in Chediak–Higashi syndrome

Abstract Chediak–Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two siste...

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Bibliographic Details
Published in:Journal of the neurological sciences 2014-09, Vol.344 (1), p.203-207
Main Authors: Mathis, S, Cintas, P, de Saint-Basile, G, Magy, L, Funalot, B, Vallat, J.-M
Format: Article
Language:English
Subjects:
Adult
Chediak-Higashi Syndrome - complications
Chediak–Higashi syndrome
Female
Humans
Lipofuscin
LYST
Motor neuron disorder
Motor neuropathy
Movement Disorders - etiology
Neurology
Peroneal Nerve - pathology
Peroneal Nerve - ultrastructure
Peroneal Neuropathies - etiology
Peroneal Neuropathies - pathology
Schwann cell
Siblings
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Summary:Abstract Chediak–Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, recurrent pyogenic infections and the presence of giant granules in many cells such as leucocytes (hallmark of the disease). Neurological symptoms are rare. We describe two sisters who presented the same phenotype of slowly progressive motor neuronopathy (with Babinski sign in one patient); biopsy of the sural nerve showed an abnormal endoneurial accumulation of lipofuscin granules. We discuss these two observations and compare them with the few case reports of neuropathy in Chediak–Higashi syndrome.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2014.06.026