A 5-year-old boy is brought to the clinic for a routine examination. The patient is doing well at his preschool and is making friends. His parents report that he has been sleeping longer than usual, often into the afternoon on weekends. They think it is because he is staying up late watching television, and they note he is moving closer to the screen because he cannot see the images clearly. Now, when he wakes up in the morning, the patient has a headache throughout his head that does not resolve with over-the-counter acetaminophen. The patient's father has obstructive sleep apnea and wears a continuous positive airway pressure mask at night. Height is at the 5th percentile and weight is at the 25th percentile. Temperature is 36.7 C (98 F). Visual acuity is decreased bilaterally. The cranial nerves are intact. Cardiopulmonary examination is normal. Skin reveals numerous freckles in the axillae and 8 flat, small, uniformly hyperpigmented macules on the trunk. Which of the following is the best next step in management of this patient?

Question

A 5-year-old boy is brought to the clinic for a routine examination.  The patient is doing well at his preschool and is making friends.  His parents report that he has been sleeping longer than usual, often into the afternoon on weekends.  They think it is because he is staying up late watching television, and they note he is moving closer to the screen because he cannot see the images clearly.  Now, when he wakes up in the morning, the patient has a headache throughout his head that does not resolve with over-the-counter acetaminophen.  The patient's father has obstructive sleep apnea and wears a continuous positive airway pressure mask at night.  Height is at the 5th percentile and weight is at the 25th percentile.  Temperature is 36.7 C (98 F).  Visual acuity is decreased bilaterally.  The cranial nerves are intact.  Cardiopulmonary examination is normal.  Skin reveals numerous freckles in the axillae and 8 flat, small, uniformly hyperpigmented macules on the trunk.  Which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec25c8_d5b9_71f1_bc81_79c4e48fbdf7_MD0003_00 Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous syndrome. Café-au-lait macules are the earliest cutaneous manifestation and often appear in infancy. With increasing age, axillary/inguinal freckles, Lisch nodules (iris hamartomas), and neurofibromas (benign peripheral nerve sheath tumors) develop. Café-au-lait macules Lisch nodules neurofibromas Patients with NF1 are also at risk for developing intracranial neoplasms. Optic pathway glioma (OPG) is the most common intracranial lesion and typically manifests during toddlerhood. Although many OPGs are asymptomatic, a growing tumor can cause headache and decreased visual acuity. Headache is often worse in the morning because intracranial pressure increases overnight while supine. Patients with NF1 are also at increased risk for astrocytomas and brainstem gliomas, even into adulthood. This patient's morning headache and vision changes are concerning for an intracranial mass. The next step in management is an MRI of the brain and orbits to evaluate the intracranial structures. (Choice A) Bilateral acoustic neuromas (vestibular schwannomas) can cause sensorineural hearing loss and are diagnostic of neurofibromatosis type 2 (NF2). Audiometry is the best initial screening test for the diagnosis of acoustic neuromas but is not indicated for patients with symptoms of NF1. Patients with NF2 do not have café-au-lait macules or axillary or inguinal freckling. (Choice C) Although patients with NF1 are at increased risk for epilepsy, an electroencephalogram is not indicated in this patient due to no clear evidence of seizures. An intracranial mass should be ruled out first. (Choice D) The erythrocyte sedimentation rate is an acute phase reactant that rises in the setting of inflammation. It is a nonspecific test that would not assist in the diagnosis of this patient's intracranial mass. (Choice E) Lumbar puncture is performed to rule out infections (eg, meningitis, encephalitis) involving the cerebrospinal fluid. Lumbar puncture carries the risk for brain herniation and should be considered only if brain imaging excludes a space-occupying mass, which should be suspected in this patient due to the morning headache. (Choice F) Obstructive sleep apnea (OSA) can present with daytime sleepiness and morning headache. However, this patient's characteristic NF1 skin findings, visual changes, and lack of obesity make OSA less likely. (Choice G) Accidental ingestion of opiates or other sedating medications can present with increased somnolence in a child. The prolonged time course, skin findings, and presence of headache argue against a toxicologic etiology. Educational objective: Patients with neurofibromatosis type 1 are at increased risk for optic pathway gliomas, which can present with headache and decreased visual acuity. MRI of the brain and orbits evaluates for an intracranial mass. References: Neurofibromatosis type I. (http://www.ncbi.nlm.nih.gov/pubmed/28230061) Clinical and genetic aspects of neurofibromatosis 1. (http://www.ncbi.nlm.nih.gov/pubmed/20027112)

A 5-Year-Old Boy Is Brought to the Clinic for a Routine