A 10-year-old boy is brought to the pediatric clinic due to unusual classroom behavior for the past year, which has worsened over the last few weeks. Although the patient is generally quiet, he intermittently disrupts the class with sniffling, repetitive throat clearing, and grunting sounds. His teacher states that the boy distracts other students and that his focus in class is poor. The behaviors worsen when he is tired, stressed, or excited. The patient's parents are also concerned because he has only a few friends and his classmates make fun of him. Medical history is significant for recurrent otitis media as a toddler, atopic dermatitis, and an influenza infection 9 months ago. Family history is significant for rheumatoid arthritis and anxiety in his mother. Temperature is 36.7 C (98 F), pulse is 78/min, blood pressure is 110/72 mm Hg, and respirations are 14/min. Physical examination shows frequent eye blinking and shoulder shrugging but is otherwise normal. Which of the following is the most likely diagnosis?
Tourette syndrome | |
Clinical features |
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This patient is experiencing both vocal and multiple motor tics (sudden, intermittent, nonrhythmic motor movements and vocalizations) consistent with a diagnosis of Tourette syndrome. Vocal tics can range from simple sounds (eg, coughing, grunting, throat clearing) to blurting out inappropriate comments and obscenities (coprolalia). They are typically preceded by irresistible urges and followed by feelings of relief. Tics have a waxing and waning course and are typically exacerbated by stress or fatigue, but they can be suppressed voluntarily for brief periods.
Tourette syndrome is more common in boys and typically presents at age 6-15. Comorbid psychiatric conditions such as attention-deficit/hyperactivity disorder (ADHD) and obsessive-compulsive disorder are common.
(Choice A) Although ADHD is a common comorbidity, this patient does not exhibit sufficient symptoms of inattention and hyperactivity/impulsivity required for this diagnosis.
(Choice B) Stereotypic movement disorder is characterized by simple repetitive movements (eg, rocking, head banging), which are voluntary in nature and seemingly purposeless. They are often seen in children with autism spectrum disorders and intellectual disability and are a common form of self-soothing.
(Choice C) Sydenham chorea is a manifestation of rheumatic fever (related to group A streptococcal infection) characterized by choreiform movements (brief, random, irregular contractions of the limbs and face), emotional lability, and hypotonia. Tics can be differentiated from chorea by their patterned, repetitive appearance; ability to be temporarily suppressed; and association with premonitory urges.
(Choice E) Wilson disease is caused by copper accumulation and can present in children and adolescents. It is characterized by liver dysfunction, neurological signs (eg, dysarthria, dystonia, ataxia) rather than tics, and psychiatric abnormalities (eg, depression, psychosis).
Educational objective:
Tourette syndrome is a common childhood neuropsychiatric disorder characterized by both vocal and multiple motor tics. These tics characteristically wax and wane, can be suppressed temporarily, and are preceded by a premonitory urge.