ABSTRACT
Objective:
To study the characteristics of clinical,
laboratory, imaging, genetic and
differential diagnosis of McLeod
syndrome.
Methods:
The clinical characteristics of 2 cases of McLeod
syndrome confirmed by
gene detection in Qilu
Hospital (Qingdao) on June 27, 2018 and in Qilu
Hospital of Shandong
University on September 11, 2019 were analyzed retrospectively. And the characteristics of
patients of McLeod
syndrome reported in
China were analyzed in combination with
literature review.
Results:
Both of the 2
patients were
adult male,
aged 57 and 61 years, respectively, with a slowly progressive
course, beginning with gradually
involuntary movement of trunk and
extremities, involving involuntary biting of the
tongue and
dysphagia. Two
patients had
mild cognitive impairment; one
patient had emotional agitation. Imaging study showed
atrophy of caput nuclei caudate. Neuroelectrophysiological examination of case 1 showed sensory
axon neuropathy in both
upper limbs with severe damage to the left
ulnar nerve.
Creatine kinase (CK) was mildly elevated in 2
patients. The peripheral
blood smear of 1
patient showed increased
acanthocytes,
accounting for 13%, the other
patient showed no increased
acanthocyte. McLeod
syndrome related
gene was tested in the 2
patients, case 1 with
deletion mutation of
exon 2 of XK
gene, and case 2 with hemizygotic
mutation of XK
gene c.898delC p.L300 *.
Conclusions:
The clinical manifestations of McLeod
syndrome are various and the
differential diagnosis is crucial. For
elderly male with cephalic facial
chorea, elevated CK level and
neuromuscular diseases, the possibility of McLeod
syndrome should be screened.