A 19-year-old man presented with a 3-month history of excessive grinning. Examination revealed unrestrained grinning and mild symmetric parkinsonism. Wilson disease was suspected and confirmed by the presence of Kayser-Fleischer ring (figure), suggestive brain MRI (figure), low ceruloplasmin, and high urinary copper levels.
Figure (A, B) Excessive grinning, (C) Kayser-Fleischer ring, (D) “face of giant panda” sign and basal ganglia T2 hyperintensity
Wilson disease is a disorder of copper metabolism characterized by hepatic impairment and movement disorders. Typical facial manifestations, although not pathognomonic, include excessive grinning, in which the patient grins to trivial stimuli,1 as demonstrated in this report; sustained open-mouth smile, when a parkinsonian face is associated with a dystonic dropped jaw (sometimes referred to as “vacuous smile”)2; and fixed forced smile, when facial dystonia produces a sustained spasm of risorius and zygomaticus muscles (also referred to as “risus sardonicus”).
Footnotes
-
Supplemental data at www.neurology.org
Disclosure: The authors report no disclosures.
Letters: Rapid online correspondence
REQUIREMENTS
You must ensure that your Disclosures have been updated within the previous six months. Please go to our Submission Site to add or update your Disclosure information.
Your co-authors must send a completed Publishing Agreement Form to Neurology Staff (not necessary for the lead/corresponding author as the form below will suffice) before you upload your comment.
If you are responding to a comment that was written about an article you originally authored:
You (and co-authors) do not need to fill out forms or check disclosures as author forms are still valid
and apply to letter.
Submission specifications:
- Submissions must be < 200 words with < 5 references. Reference 1 must be the article on which you are commenting.
- Submissions should not have more than 5 authors. (Exception: original author replies can include all original authors of the article)
- Submit only on articles published within 6 months of issue date.
- Do not be redundant. Read any comments already posted on the article prior to submission.
- Submitted comments are subject to editing and editor review prior to posting.
You May Also be Interested in
Hastening the Diagnosis of Amyotrophic Lateral Sclerosis
Dr. Brian Callaghan and Dr. Kellen Quigg
► Watch
Topics Discussed
Alert Me
Recommended articles
Neurologic presentation of Wilson disease without Kayser-Fleischer rings
Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease
Clinical Reasoning: A 24-year-old man with head tremor and decreased ceruloplasmin level
Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation