Pediatric Examination and Board Review (232 page)

(B) clonazepam

(C) haloperidol

(D) baclofen

(E) fluphenazine

9.
A 12-year-old girl comes to your office with the chief complaint of writhing movements involving the hands and feet. In addition, the patient experiences random muscle jerks that prevent her from using eating utensils. She was referred to a child psychiatrist because she has had periods of inappropriate laughter mixed with periods of extreme sadness. Her past medical history is significant for a severe pharyngitis she experienced approximately 3 months ago. There is no family history of Huntington disease. On examination, the patient is a thin female who has a hard time sitting still. Her vital signs are normal. She has a new cardiac murmur, which you confirmed with her previous pediatrician. You note the movements described above, but her neurologic examination is otherwise within normal limits. This patient most likely has which of the following diagnoses?

(A) restless legs syndrome

(B) Sydenham chorea

(C) rheumatic heart disease

(D) Wilson disease

(E) B and C are equally likely

10.
The next most important action/study in the evaluation of the patient from question 9 is which of the following?

(A) an EEG

(B) MRI of the brain with and without contrast

(C) referral to a pediatric cardiologist for an echocardiogram and ECG

(D) enteroviral titers

(E) ceruloplasmin

11.
Opsoclonus myoclonus is associated with which of the following disorders?

(A) Wilms’ tumor

(B) neuroblastoma

(C) epilepsy

(D) benign myoclonus of early infancy

(E) Pelizaeus-Merzbacher disease

12.
You are asked to see an 8-year-old girl who recently developed torticollis and dystonic posturing of her upper limb 30 minutes after an oral dose of medication. The medication most likely to cause these symptoms is which of the following?

(A) baclofen

(B) acetaminophen

(C) diphendydramine

(D) prochlorperazine

(E) phenobarbital

13.
An almost 18-year-old young woman presents to your clinic for evaluation of bilateral hand tremor. On physical examination you notice a coarse resting tremor that increases with volitional movement. You also note subtle side-to-side head movements. The tremors never occur during sleep. On obtaining a substance abuse history, the patient reluctantly admits to occasional alcohol use. Interestingly, she states that her tremors are better following an alcoholic beverage. Her father, a recovering alcoholic, developed similar symptoms when he was in his early 20s. This patient most likely has which of the following conditions?

(A) juvenile Parkinson disease

(B) delirium tremens

(C) physiologic tremor

(D) essential familial tremor

(E) drug-induced Parkinson disease

14.
Kernicterus is caused by which of the following etiologies?

(A) hypoxia

(B) hyperbilirubinemia

(C) infection

(D) maternal drug use

(E) prematurity

15.
Brown copper deposits occurring on the iris (Kaiser-Fleischer rings) are seen in which of the following disorders?

(A) TSC

(B) NF type 1

(C) Wilson disease

(D) Tay-Sachs disease

(E) Sturge-Weber syndrome

MATCH EACH OF THE FOLLOWING MOVEMENTS WITH ITS DEFINITION

ANSWERS

1.
(E)
This child most likely has a tic disorder, which range in severity from a transient tic disorder to Tourette syndrome. In the evaluation of tic disorders, the physician must determine if the disorder is primary (Tourette syndrome) or secondary (Tourette-like disorder). Certain medications, such as stimulants used in the treatment of ADHD, have been shown to “unmask” tics in patients that may subsequently develop Tourette syndrome. Neuropsychological problems are often seen in patients with Tourette syndrome and include OCD behaviors, anxiety, depression, aggressive behaviors, ADHD, and sleep disturbances. In terms of deciding on a treatment course, it is important to know if the movements are functionally disabling to the child or psychologically bothersome.

2.
(C)
This child most likely has Tourette syndrome given the presence of multiple motor tics, at least one vocal tic, and symptoms occurring for longer than 1 year with an age of onset before the age of 18 years. In addition, the child has not been symptom free for longer than 3 months, which is a
DSM-IV
criterion. The differential diagnosis of tic disorders includes seizure disorders, Wilson disease, juvenile Huntington disease, and PANDAS (
p
ediatric
a
utoimmune
n
europsychiatric
d
isorders
a
ssociated with
s
treptococcal infection). Many of these disorders can be excluded with an accurate history and physical examination. Ultimately, because there is no specific diagnostic test for Tourette syndrome, and the diagnosis is made clinically.

3.
(C)
Methylphenidate is a stimulant used in the treatment of ADHD. The use of stimulants in patients with ADHD and tic disorders is controversial because some of the medications used in the treatment of ADHD, such as methylphenidate, can exacerbate the movements. Clonidine has been used to treat ADHD as well as tic disorders and may be tried in this setting. Because methylphenidate is a stimulant, when used, it is best given in the morning. Patients who take it later in the day or evening may have difficulty falling asleep. Motor and vocal tics are not associated with electrographic changes on EEG. Hence the study would not add anything to the decision-making process.

4.
(C)
The
DSM
-
IV
diagnostic criteria for Tourette disorder require that the patient experience symptoms for at least 1 year. The course is gradual, and certain types of tics may come and go. At least one vocal tic must be present. To be considered Tourette disorder, the patient cannot have more than 3 consecutive months without symptoms. The disorder cannot be a side effect of drugs or be caused by another medical condition.

5.
(E)
Children with Tourette syndrome can have a number of neuropsychological problems including OCD, ADHD, depression, and behavioral problems. Obsessions include intrusive, unwelcome thoughts or ideas. The obsessions (eg, feeling that one’s hands are covered with bacteria) may result in a compulsion, a purposeful repetitive behavior designed to relieve the obsession (eg, hand washing). The incidence of OCD in patients with Tourette’s syndrome ranges from approximately 30-60% depending on the study. ADHD is comorbid in approximately 50% of patients with Tourette syndrome. ADHD may precede the diagnosis of tics by a few years. Although children with Tourette syndrome can have serious difficulties in school, the presence of comorbid ADHD is probably the most important contributing factor. Psychosocial factors, behavioral problems, and depression are also important contributing factors to poor school performance.

6.
(E)
This patient most likely has an OCD in addition to Tourette syndrome. OCD can be treated with selective serotonin reuptake inhibitors (SSRIs), such as fluoxetine, or a serotonin/norepinephrine reuptake inhibitor, such as clomipramine.

7.
(A)
TS is more common in males than females with a mean age of onset of 6-7 years. Because there is no diagnostic test specific for TS, neuroimaging, as well as routine blood work, is typically normal. Over the course of the illness, most tics change in quality and even severity. The tics are exacerbated by stress, fear, fatigue, and excitement. Treatment is generally reserved for those patients in whom the tics become troublesome, either by causing impairment of function or by harming the child on a psychosocial level. In this circumstance, the child has also failed nonpharmacologic modes of treatment.

8.
(D)
Pimozide, clonazepam, haloperidol, and fluphenazine have all been used in the treatment of tic disorders. Baclofen has been used in the treatment of chorea and spasticity.

9.
(E)
This patient is experiencing chorea and emotional lability, 2 of 3 classical characteristics of Sydenham chorea, a condition that occurs after a group A streptococcal infection of the tonsils and pharynx. The third classical characteristic is hypotonia. In addition to these symptoms, the patient now has a new cardiac murmur suggestive of rheumatic myocarditis. The hallmark heart murmur of rheumatic myocarditis is that of mitral regurgitation. As a result of the chorea and carditis, the patient meets the criteria for a diagnosis of rheumatic fever given that she has 2 major manifestations of the Jones criteria. The other 3 major manifestations are polyarthritis, erythema marginatum, and subcutaneous nodules. There are also minor criteria such as fever, arthralgia, elevated acute-phase reactants (erythrocyte sedimentation rate and Creactive protein), and prolonged PR interval on echocardiography. Rheumatic heart disease is seen in approximately a third of patients with Sydenham chorea. Several medications have been tried to control the choreiform movements including diazepam, phenothiazines, valproic acid, and butyrophenones.

10.
(C)
The severity of rheumatic myocarditis can vary from mild cardiac failure resulting in death. Under the circumstances this patient should be referred to a pediatric cardiologist, who based on the physical examination may obtain an echocardiogram to confirm the type of murmur heard on auscultation. In addition, the cardiologist may order an electrocardiogram as a baseline study or to assess the PR interval. An EEG and MRI of the brain would most likely be normal in patients with Sydenham chorea. Enteroviruses cause protean manifestations in children but not illness similar to this girl’s. Serum concentrations of ceruloplasmin are decreased in Wilson disease.

11.
(B)
Opsoclonus myoclonus (“dancing eyes”) is a paraneoplastic or postinfectious movement disorder characterized by ataxia, myoclonus, and oscillopsia, which refers to multidirectional, chaotic eye movements. The syndrome typically presents in infancy or early childhood (6-36 months of age). When observed, the clinician should begin an investigation for a neural crest tumor, most commonly neuroblastoma, because 50% of patients with opsoclonus myoclonus have such a tumor. The pathogenesis of this syndrome is poorly understood but is most likely immune mediated. This is supported by the observation that treatment with steroids and other immunotherapies, such as IVIG and azathioprine, are of some benefit.

12.
(D)
A number of prescription medications can result in neurologic morbidity, including acute dystonia, parkinsonism, tardive dyskinesia, acute akathisia, and neuroleptic malignant syndrome. Some of the more common medications that can cause acute dystonia include phenothiazines, butyrophenones, levothyroxine, and some antiepileptics (carbamazepine and phenytoin). Prochlorperazine is a phenothiazine used commonly as an antiemetic. Patients can develop an acute dystonia following a single dose of a neuroleptic. The acute dystonic reactions are usually self-limited and can be quite diverse in presentation. Some patients may present with oculogyric crisis, torticollis, or opisthotonic posturing. Anticholinergic agents, such as diphenhydramine or benztropine, can provide immediate relief in most patients.