کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1913550 | 1535118 | 2014 | 5 صفحه PDF | دانلود رایگان |
![عکس صفحه اول مقاله: Motor neuronopathy in Chediak–Higashi syndrome Motor neuronopathy in Chediak–Higashi syndrome](/preview/png/1913550.png)
• Chediak–Higashi syndrome (CHS) is a rare recessive autosomal disorder.
• The neuropathy is a predominant motor neuropathy.
• Lipofuscin granules may be a marker of CHS.
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.
Journal: Journal of the Neurological Sciences - Volume 344, Issues 1–2, 15 September 2014, Pages 203–207