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Zorluk: OrtaPediatric Neurologic Disorders

During a routine health maintenance visit, the parents of a 5-year-old child express concern about multiple dark spots that have appeared on the child's skin over the past few years. The parents state that the child has generally been healthy. The father notes he was briefly worried when the child began walking independently at 14 months of age, but the child now runs, climbs stairs, and speaks in complete sentences. Vital signs are within normal limits for age. Physical examination reveals seven flat, uniformly hyperpigmented, oval macules measuring 10 to 15 mm in diameter scattered across the thorax and back. Distinct clusters of small freckles are also observed in the axillary and inguinal regions. The remainder of the physical and neurological examination is unremarkable. Based on the most likely diagnosis, which of the following are appropriate components of this patient's ongoing management? (Select 2)

  1. Referral for a comprehensive ophthalmologic evaluationCevap
  2. Close monitoring of blood pressure at regular intervalsCevap
  3. C
    Referral for intensive early intervention due to the delayed acquisition of independent walking
  4. D
    Empiric application of broad-spectrum topical antibiotics for the axillary lesions
  5. E
    Submission of a formal disciplinary report against the previous physician for failing to identify the condition earlier

Cevap

The correct steps in management are referral for a comprehensive ophthalmologic evaluation and close monitoring of blood pressure at regular intervals.
The patient's clinical presentation of six or more café-au-lait macules and axillary/inguinal freckling (Crowe sign) is highly diagnostic of Neurofibromatosis Type 1 (NF1). In children diagnosed with NF1, routine management must include annual comprehensive ophthalmologic evaluations to screen for optic pathway gliomas and Lisch nodules (iris hamartomas). Additionally, children with NF1 are at an increased risk for hypertension due to vascular dysplasia (such as renal artery stenosis) or, less commonly, pheochromocytoma; therefore, regular and close monitoring of blood pressure is a critical component of their ongoing primary care.

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1
Identify the clinical syndrome based on the dermatologic findings.
The presence of seven café-au-lait macules (>5 mm before puberty) and axillary/inguinal freckling meets the diagnostic criteria for Neurofibromatosis Type 1 (NF1).
Recognizing the hallmark cutaneous signs of NF1 is necessary to determine the appropriate evidence-based screening and management guidelines.
2
Evaluate the patient's developmental history.
Walking independently at 14 months is within the normal developmental window (typically acquired between 9 and 15 to 18 months).
Accurately assessing milestones prevents unnecessary interventions for normal developmental timelines.
3
Determine the appropriate ongoing management and screening for the identified condition.
Standard management for asymptomatic children with NF1 includes annual ophthalmologic exams and regular blood pressure monitoring.
Ophthalmologic exams screen for optic pathway gliomas and Lisch nodules. Blood pressure monitoring is critical to detect secondary hypertension caused by renal artery stenosis or pheochromocytoma.

Anahtar Kavram

Neurofibromatosis Type 1 (NF1) Clinical Diagnosis and Screening
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Konular

Pediatric Neurologic Disorders

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