[source]
pmid = PMID:28446873
title = Novel VPS13A Gene Mutations Identified in Patients Diagnosed with Chorea-acanthocytosis (ChAc): Case Presentation and Literature Review
[diagnosis]
disease_id = OMIM:200150
disease_label = Choreoacanthocytosis
[text]
Case 1
A 37-year-old man, a warehouse keeper, presented with perioral chorea, dysphagia, dysarthria, vocalization, and involuntary upper limb movements for 5 months.
His symptoms had been gradually progressing, aggravated recently by involuntary self-mutilation behaviors: tongue and lip biting.
The past history revealed that he was diagnosed with generalized tonic–clonic seizure (GTCS) at age 30, but maintaining continuous remission
with regular sodium valproate administration. On neurological examination, the patient showed perioral chorea, reduced muscle tone and tendon reflex and sporadic mouth ulcers,
especially accompany frequent suck-mimicking activity. Upon admission screening stage, the laboratory biomedical tests revealed a considerable elevation in serum creatine kinase (CK),
 l-lactate dehydrogenase (LDH) and alpha hydroxybutyrate dehydrogenase (HBDH), especially for CK reaching up to seven-fold (see Table 1).
 The subsequent brain magnetic resonance imaging (MRI) scanning indicated moderate anterior horn dilation of lateral ventricles and mild caudate nucleus head atrophy
 (see Figure 1A-left column).
 Then four repeated and independent blood smears were performed, revealing that acanthocytes ratio averaged to 18% of the complete blood count (CBC).
[text]
Case 2
A 45-year-old housewife gradually developed involuntary bruxism (teeth grinding), dysphagia, dysarthria, vocalization, and frequent self-mutilation behaviors (tongue and lip biting)
after a recovery from a severe mouth ulcer 1 month ago. Her orofacial chorea was characterized by clumsy, non-coordinated mandibular movement and occasional grimacing activities.
A further family history inquiry revealed no similar symptom presenters. On neurological examination, she showed frequent teeth clenching, reduced limb muscle tone and tendon reflex and
multiple lip ulcers. To prevent the risk of self-mutilation, she had to continuously hold a roll of cloth in her mouth. The serum CK, LDH, and HBDH levels are all within normal ranges
(see Table 1). On the basis of clinical features and serum biomchemical indicators, the patient was temporarily diagnosed with oromandibular dystonia.
But a routine blood smear test accidentally detected acanthocytes.
Subsequently, three repeated and independent peripheral blood smears conformably detected acanthocytes, with acanthocytes ratio averaged to 17% of CBC (see Figure 1B-right column).
Besides, brain MRI scanning demonstrated mild atrophy in the caudate head and putamen bilaterally, accompanying moderate anterior horn dilation of lateral ventricles
(see Figure 1A-right column).
