Inflammatory demyelinating neuropathy heralding accelerated chediak‐higashi syndrome

ABSTRACT Introduction Chediak‐Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. Methods We describe clini...

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Published in:Muscle & nerve 2017-05, Vol.55 (5), p.756-760
Main Authors: Faber, Ingrid Vasconcellos, Prota, Joana Rosa Marques, Martinez, Alberto Rolim Muro, Nucci, Anamarli, Lopes‐Cendes, Iscia, Júnior, Marcondes Cavalcante França
Format: Article
Language:English
Subjects:
Adolescent
albinism
Chediak-Higashi Syndrome - complications
Chediak-Higashi Syndrome - genetics
Chediak-Higashi Syndrome - physiopathology
Chediak‐Higashi syndrome
chronic inflammatory polyneuropathy
demyelinating neuropathy
Disease Progression
Electrodiagnosis
Female
Guillain-Barre Syndrome - etiology
Guillain-Barre Syndrome - genetics
Guillain-Barre Syndrome - physiopathology
Humans
immunodeficiency
lysosomal disorder
Mutation
Vesicular Transport Proteins - genetics
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Summary:ABSTRACT Introduction Chediak‐Higashi syndrome (CHS) is a very rare autosomal recessive disorder (gene CHS1/LYST) characterized by partial albinism, recurrent infections, and easy bruising. Survivors develop a constellation of slowly progressive neurological manifestations. Methods We describe clinical, laboratory, electrophysiological, and genetic findings of a patient who developed an immune‐mediated demyelinating neuropathy as the main clinical feature of CHS. Results The patient presented with subacute flaccid paraparesis, absent reflexes, and reduced vibration sense. Protein and immunoglobulins (Igs) were elevated in the cerebrospinal fluid. Electrodiagnostic tests indicated an acquired chronic demyelinating polyneuropathy. Intravenous Ig and immunosuppressant treatment resulted in neurological improvement. The patient later developed organomegaly and pancytopenia. Bone‐marrow smear revealed giant azurophilic granules pathognomonic for CHS. Two novel mutations in the LYST gene were identified through whole exome sequencing [c.7786C>T and c.9106 + 1G>T]. Conclusions This case expands the clinical phenotype of CHS and highlights inflammatory demyelinating neuropathy as a manifestation of the disease. Muscle Nerve 55: 756–760, 2017
ISSN:0148-639X
1097-4598
DOI:10.1002/mus.25414