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Chapter 35: Pediatric Neurology

A 4-year-old boy presents to his pediatrician after his parents notice he has trouble rising from a seated position. They have also noticed he tends to walk on his toes, falls easily if jostled, and tires quickly when he walks. On further questioning, they report that he crawled late and did not walk until 18 months of age. His verbal and social skills are normal, and he was toilet trained by age 2.5 years. On exam, he has decreased patellar reflexes, 4/5 strength in his proximal leg muscles, and an exaggerated lumbar lordosis. What is the best first test to order?

A. Magnetic resonance imaging (MRI) of brain with and without contrast

B. MRI of lumbar spine

C. Nerve conduction studies of his lower extremities

D. Creatine kinase (CK) level

D. Proximal leg weakness, delayed walking, and toe walking in the context of normal cognitive development are indicative of a muscular dystrophy, most likely Duchenne muscular dystrophy. The first test to order in this scenario is a CK level, which is generally 10 to 30 times above average. After an elevated CK level has been verified, the diagnosis can be made with genetic testing.

A 2-year-old girl is brought to the emergency department (ED) by her parents after she had an episode at home of arm and leg stiffening followed by eye rolling and whole-body rhythmic jerking lasting 3 minutes. They report she had a similar episode a few months ago lasting about 30 seconds associated with an upper respiratory infection and fever. In the ED, she is febrile to 102°F but otherwise awake, alert, and without any focal neurologic deficits. She has no significant medical history and normal development. Her parents report that recently she has had a runny nose and cough and has been pulling on her ears. Lab work in the ED, including electrolytes, complete blood count, and urinalysis, is unremarkable. What is the next best step?

A. Stat head computed tomography (CT)

B. Lumbar puncture

C. Reassurance

D. Start antiepileptic medication

C. A generalized seizure lasting <15 minutes in a neurologically normal child between the ages of 6 months and 6 years without symptoms concerning for meningitis is considered a simple febrile seizure and does not require further workup or management. Parental reassurance and seizure education are most important and appropriate.

A child presents to her pediatrician for her 12-month check-up. Her parents report that although she ...

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