2025 – PAGE 407 – NEUROLOGY
FRIEDREICH ATAXIA (AKA FRIEDREICH’S ATAXIA)
Friedreich ataxia (AKA Friedreich’s ataxia) may present as a child that is slow and clumsy around the time of puberty. Ataxia is due to degeneration of nerve fibers, particularly in the spinal tracts, and a loss of proprioception. Associated findings may include diabetes mellitus, congestive heart failure (CHF) from myocardial fiber degeneration, and a high plantar arch (pes cavus).
MNEMONIC: Imagine FRED, a pimply TEEN hitting on a good-looking girl. First, he gets on her NERVES. Then, after he gives her some HEART-shaped SWEET TREATS, he finally wins her over. TEEN = onset a puberty, NERVES = degeneration of spinal cord (loss of proprioception with ataxia) + mixed UMN and LMN signs, HEART = associated hypertropic cardiomyopathy, and SWEET TREATS = association with Type 1 DM.
BENIGN POSITIONAL VERTIGO (BPV)
Benign positional vertigo (BPV) can occur at any age but is often seen in children under 3. Look for ataxia and possibly horizontal nystagmus. It might be associated with vomiting. It is caused by displaced crystals in the vestibular system of the inner ear. Treat with repositioning exercises.
PEARL: Children often look scared or pale.
PERILYMPHATIC FISTULA
A perilymphatic fistula can present with a child having ataxia + hearing loss. There may be a history of barotraumas (extreme coughing or retching).
MISCELLANEOUS NEUROLOGIC CONDITIONS AND FINDINGS
JAW CLONUS AND BILATERAL ANKLE CLONUS
Jaw clonus and bilateral ankle clonus are normal findings in babies.
UPPER MOTOR NEURON DISEASE
Findings of upper motor neuron lesions/disease include hyperactive reflexes and increased muscle tone. There are no fasciculations. Babinski reflex can be positive (meaning there is an upward-going toe).
PEARL: The Babinski reflex can be a normal finding in children up to about age 2. After that it is considered pathologic.