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Zorluk: OrtaPediatric Neurologic Disorders

A 66-month-old boy is brought to the clinic by his parents due to abnormal movements. Over the past 22 weeks, he has had multiple episodes daily where he suddenly bends his head and trunk forward while stiffening his arms. These episodes occur in clusters, most often just after waking up from a nap. The parents are also highly concerned about his development because he has not yet begun to crawl or pull himself to a stand, though he rolls over in both directions and babbles. Vital signs are within normal limits. Neurologic examination shows a slightly hypotonic infant. Skin examination reveals three 2-cm2\text{-cm}, elliptical, hypopigmented macules on his trunk that are accentuated under a Wood lamp. Laboratory studies show a thyroid-stimulating hormone (TSH) level of 2.5 μU/mL2.5\ \mu\text{U/mL} and a free T4 of 1.2 ng/dL1.2\ \text{ng/dL}. An electroencephalogram demonstrates a high-voltage, chaotic, slow-wave background with multifocal spikes. Which of the following is the most appropriate next step in management?

  1. A
    Prescription of topical clotrimazole
  2. B
    Referral for physical therapy to treat delayed gross motor milestones
  3. Initiation of vigabatrinCevap
  4. D
    Initiation of levothyroxine therapy
  5. E
    Withholding of all future live-attenuated vaccines

Cevap

The most appropriate next step in management is the initiation of vigabatrin.
This patient presents with classic infantile spasms (clusters of symmetric spasms upon awakening, hypsarrhythmia on electroencephalogram) and ash-leaf spots (elliptical, hypopigmented macules that fluoresce under a Wood lamp). This combination is highly suggestive of Tuberous Sclerosis Complex. Vigabatrin is an irreversible inhibitor of GABA transaminase and is the specific first-line treatment of choice for infantile spasms in patients with Tuberous Sclerosis Complex.

Adım Adım Çözüm

1
Identify the clinical syndrome based on the seizure semiology and electroencephalogram findings.
The patient has infantile spasms (West syndrome), characterized by clusters of flexion/extension spasms and hypsarrhythmia on electroencephalogram.
Establishing the primary neurologic presentation is required before determining the underlying etiology.
2
Correlate the neurologic presentation with the dermatologic findings.
The presence of infantile spasms alongside ash-leaf spots (hypopigmented macules that fluoresce) confirms a diagnosis of Tuberous Sclerosis Complex.
The underlying etiology dictates the specific targeted pharmacotherapy for the seizures.
3
Select the most appropriate first-line medication for this specific condition.
Vigabatrin is indicated.
While adrenocorticotropic hormone (ACTH) is first-line for idiopathic infantile spasms, vigabatrin is the specific drug of choice for infantile spasms associated with Tuberous Sclerosis Complex.

Anahtar Kavram

Vigabatrin is the first-line treatment for infantile spasms associated with Tuberous Sclerosis Complex.
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