Motor neuronopathy in Chediak-Higashi syndrome.
J Neurol Sci
; 344(1-2): 203-7, 2014 Sep 15.
Article
in En
| MEDLINE
| ID: mdl-25043664
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chediak-Higashi Syndrome
/
Peroneal Neuropathies
/
Movement Disorders
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
J Neurol Sci
Year:
2014
Document type:
Article
Affiliation country:
France