Pediatric Examination and Board Review (233 page)

13.
(D)
Essential familial tremor is a common form of tremor. It is inherited as an autosomal dominant trait with a typical onset in the patient’s teens. The diagnosis is usually evident by the time the patient is in his or her 20s or 30s. Patients typically manifest a coarse resting tremor in the upper extremities that worsens with volitional movement. The tremor is not present during sleep. Head and face may also be involved, often resembling titubation (shaking or tremor of the head due to cerebellar dysfunction). Interestingly, essential tremors get better with alcohol ingestion. The clinical characteristics of Parkinson disease include rigidity, bradykinesia, tremor, and postural instability. The tremor in Parkinson disease is a resting tremor; however, voluntary movement suppresses it. Physiologic tremor occurs when the patient extends the arms forward. Certain drugs such as valproic acid can exacerbate a physiologic tremor.

14.
(B)
Kernicterus is caused by elevated bilirubin levels in the perinatal period resulting in injury to the globus pallidus. As a result, patients can develop choreoathetosis and dystonia. In addition, patients can develop sensorineural hearing loss. Infection, prematurity, and hypoxia can increase the susceptibility to hyperbilirubinemia. The most effective treatment for this condition is prevention.

15.
(C)
Wilson disease has the clinical findings of tremor, rigidity, drooling, and Kayser-Fleischer rings (see
Figure 135-1
) in the setting of liver dysfunction. The disease is caused by an impairment of copper metabolism, which results in the deposition and accumulation of copper in various tissues, including the liver. On ingestion, copper binds to albumin and is transferred to the liver where it will be incorporated into ceruloplasmin. The concentration of this protein is decreased in patients with Wilson disease. Kayser-Fleischer rings are pathognomonic for Wilson disease. The rings form as a result of copper granule deposition in Descemet membrane. The disease is transmitted as an autosomal recessive trait. The disease is treated by restricting copper from the diet and chelation therapy with D-penicillamine.

FIGURE 135-1
.
Brownish Kaiser-Fleischer ring at the rim of the cornea in a patient with Wilson disease. (Reproduced, with permission, from Fauci AS, Kasper DL, Braunwald E, et al. Harrison’s Principles of Internal Medicine, 17th ed. New York: McGraw-Hill, 2008. Fig. 354-1.)

16.
(C)

17.
(D)

18.
(B)

19.
(E)

20.
(A)

S
UGGESTED
R
EADING

Pranzatelli MR. Movement disorders in childhood.
Pediatr Rev.
1996;17:388-394.

Sanger TD, Mink JW. Movement disorders. In: Swaiman KF, Ashwal S, Ferriero DM, eds.
Pediatric Neurology
:
Principles
&
Practice.
4th ed. Philadelphia, PA: Mosby; 2006:1271.

CASE 136: A 16-YEAR-OLD GIRL WITH HEADACHES AND BLURRED VISION

A 16-year-old girl presents to your clinic with the chief complaint of headaches and blurred vision. The patient was in her usual state of health until approximately 2 months ago when she started to experience headaches over the “top of her head.” The headaches occur daily and are exacerbated by coughing or exercise. The headaches seem to be worse in the morning. She states that she has been treating the headaches with acetaminophen with little, if any, benefit despite taking the medication daily. Recently, she started experiencing blurred vision and vertigo. She denies any history of nausea, vomiting, or photophobia. There is no family history of migraines. Her paternal grandfather died of “brain cancer.”

On physical examination, she is an obese female in mild distress. Her body mass index is 30. She is afebrile and her vital signs are stable. On examination of her fundi, you note bilateral papilledema. Examination of her visual fields at the bedside reveals bilateral enlarged blind spots. Her pupils are round, reactive, and equal to light. Extraocular eye movements are intact without pain on lateral or upward gaze. The remainder of her cranial nerve examination is normal. On motor examination, her muscle tone, bulk, and strength are normal in the upper and lower extremities bilaterally. Her deep tendon reflexes, gait, and sensory examination are normal.

SELECT THE ONE BEST ANSWER

1.
The next appropriate action in the evaluation of this patient is which of the following?

(A) neuroimaging with head CT or MRI of the brain

(B) lumbar puncture

(C) visual field testing

(D) tonometry

(E) no further action is necessary for diagnosis

2.
Which of the following medical conditions or prescription drugs can cause papilledema?

(A) tetracycline

(B) primary CNS tumors

(C) Guillain-Barré syndrome

(D) lupus erythematosus

(E) all of the above

3.
You were able to obtain an MRI of the brain with and without contrast that same day. The radiologist calls you to tell you that the study is completely normal. At this point, the highest yield diagnostic study is which of the following?

(A) static Humphrey perimetry (visual field testing)

(B) vitamin A level

(C) cerebral angiography

(D) lumbar puncture

(E) erythrocyte sedimentation rate

4.
Intraocular pressure as measured by tonometry was normal. Assuming the patient has an elevated opening pressure on lumbar puncture (280 mm H
₂
O), which of the following is the most likely diagnosis of this patient’s medical problem?

(A) glaucoma

(B) pseudotumor cerebri

(C) migraine without aura

(D) Arnold-Chiari type I malformation

(E) chronic daily headache

5.
In terms of counseling this patient, which of the following statements are especially important in this case?

(A) “you should reduce your intake of nonsteroidal anti-inflammatory drugs to no more than 2-3 times per week because you are at risk for medication overuse headaches”

(B) “a decrease in body weight of at least 15% will help reduce or alleviate your headaches”

(C) “certain drugs and vitamins, such as oral contraceptives and vitamin A, are risk factors for your condition”

(D) “you should not drive”

(E) all of the above are correct

6.
Following the spinal tap, the patient’s headaches and visual symptoms dramatically improve. You decide to start the patient on a daily medication to help manage her headaches. Which of the following medications is most likely to benefit the patient?

(A) valproic acid

(B) propranolol

(C) acetazolamide

(D) ibuprofen

(E) dihydroergotamine

7.
What is the average head circumference for a fullterm newborn boy?

(A) 40 cm

(B) 38 cm

(C) 35 cm

(D) 30 cm

(E) 20 cm

8.
A 10-year-old boy comes to your office for evaluation of headaches. He states he first experienced headaches at the age of 8 years. The pain is localized to the frontal regions bilaterally. He describes a pulsating quality to the headaches and cites that they are extremely severe. The headaches are associated with nausea, photophobia, and phonophobia. They are aggravated by routine physical activity. He has averaged approximately 1 headache per month but states that last summer he did not experience any head pain. His physical examination is normal. A head CT was performed in the ED and is reportedly normal. This patient’s headache is most likely due to which of the following?

(A) migraine headache with aura (classic migraine)

(B) episodic tension-type headaches

(C) migraine headache without aura (common migraine)

(D) complicated migraine

(E) basilar artery migraine

9.
An 8-year-old boy complains of unilateral headache, photophobia, nausea, and vomiting. He has had symptoms on and off for approximately 15 months. On occasion, the headaches are so severe he needs to stay home from school. Before many of the headaches, he sees brightly colored lights for approximately 12 minutes. This patient’s headache is most likely due to which of the following disorders?