A 6-year-old girl is brought to the office by her parents for evaluation of odd behaviors. For the past year, the patient has had brief episodes of repetitive blinking. Her father says, "We thought she had dry eyes, but giving her artificial tears didn't help." He says the blinking gets worse when she is excited and seems to subside when she is watching television. Due to the episodes, the patient has difficulty paying attention in class and plays alone because other children make fun of her. She is meeting appropriate developmental milestones and tracking adequately on growth curves. Medical history is unremarkable apart from an upper respiratory infection a month ago. Temperature is 37.2 C (99 F), blood pressure is 110/70 mm Hg, pulse is 80/min, and respirations are 14/min. During the evaluation, the patient intermittently squeaks and scrunches her nose; when asked about this, she says she cannot stop pretending to be a bunny. Her parents share that she has been "acting like a rabbit" every day for the past month. Physical examination, including ocular examination, is unremarkable. Which of the following is the most likely diagnosis?

Question

A 6-year-old girl is brought to the office by her parents for evaluation of odd behaviors.  For the past year, the patient has had brief episodes of repetitive blinking.  Her father says, "We thought she had dry eyes, but giving her artificial tears didn't help."  He says the blinking gets worse when she is excited and seems to subside when she is watching television.  Due to the episodes, the patient has difficulty paying attention in class and plays alone because other children make fun of her.  She is meeting appropriate developmental milestones and tracking adequately on growth curves.  Medical history is unremarkable apart from an upper respiratory infection a month ago.  Temperature is 37.2 C (99 F), blood pressure is 110/70 mm Hg, pulse is 80/min, and respirations are 14/min.  During the evaluation, the patient intermittently squeaks and scrunches her nose; when asked about this, she says she cannot stop pretending to be a bunny.  Her parents share that she has been "acting like a rabbit" every day for the past month.  Physical examination, including ocular examination, is unremarkable.  Which of the following is the most likely diagnosis?

Quizplus · Accepted Answer

Explanation: 11ec25c8_d811_e17d_bc81_2bd29d79012d_MD0003_00 This girl's multiple motor tics (blinking, scrunching her nose) and vocal tic (squeaking) are consistent with Tourette syndrome (TS), which commonly presents in children age 6-15. Motor tics include simple movements such as blinking or shrugging and complex movements such as kicking and writhing. Vocal tics may include simple sounds (eg, squeaking) or more complex vocalizations such as coprolalia (ie, using obscene words) and echolalia (ie, repeating other people's words). The tics do not have to occur concurrently and often wax and wane in intensity. Tics are repetitive, often preceded by a premonitory urge, and can be briefly suppressed. They may be distracting and cause difficulty for the patient in academic settings. Tics are often interpreted as volitional or bizarre, resulting in teasing (as in this case). (Choice A) Absence seizures also occur in young children (typically age 4-10) and can be accompanied by motor automatisms (eg, lip smacking, blinking). However, they are characterized by brief episodes of altered attention accompanied by a blank stare, which is not apparent in this patient. (Choice B) Although TS is often comorbid with attention deficit hyperactivity disorder, this patient has not demonstrated poor attention in multiple settings. Her impaired attention is limited to the school setting and is more likely related to distress surrounding her tics. (Choice C) This girl's isolation at school is likely due to being teased by other children rather than a global deficit in social skills. She also has not exhibited the restricted interests or repetitive pattern of behavior required for the diagnosis of autism spectrum disorder. (Choice D) Persistent (chronic) motor or vocal tic disorder is characterized by either motor or vocal tics lasting >1 year, but not both. This girl has multiple motor tics and one vocal tic. (Choice E) Sydenham chorea is a potential complication of group A streptococcal infection. It is characterized by choreiform movements, which are random, irregular contractions. Tics, in contrast, are more patterned and repetitive. Educational objective: Tourette syndrome is characterized by multiple motor tics and at least one vocal tic, which may wax and wane in intensity. It commonly presents in children age 6-15 and may result in distraction and teasing in the school setting. References: Tics and Tourette syndrome. (http://www.ncbi.nlm.nih.gov/pubmed/25432726) Tourette syndrome: update. (http://www.ncbi.nlm.nih.gov/pubmed/25604739) Tourette's syndrome and its borderland. (http://www.ncbi.nlm.nih.gov/pubmed/29636375)

A 6-Year-Old Girl Is Brought to the Office by Her