A 7-year-old boy is brought to the emergency department after a seizure. He was watching television when he developed tonic-clonic movements lasting 5 minutes. The seizure stopped without intervention, but the boy had loss of urine and was confused afterward. The patient was born full term and has no known medical conditions. He has struggled academically in school and is often disruptive in class and unable to stay on task. Family history is significant for a maternal uncle with fragile X syndrome who lives in an assisted-living facility. On physical examination, the pupils are equal and reactive, and the fundi are normal. Mucous membranes are clear, and there is no cleft lip or palate or other facial dysmorphisms. The axillary and inguinal folds have multiple freckles; the chest and back have 6, darkly pigmented macules with smooth borders. This patient's diagnosis is most commonly associated with which additional finding?

Question

A 7-year-old boy is brought to the emergency department after a seizure.  He was watching television when he developed tonic-clonic movements lasting 5 minutes.  The seizure stopped without intervention, but the boy had loss of urine and was confused afterward.  The patient was born full term and has no known medical conditions.  He has struggled academically in school and is often disruptive in class and unable to stay on task.  Family history is significant for a maternal uncle with fragile X syndrome who lives in an assisted-living facility.  On physical examination, the pupils are equal and reactive, and the fundi are normal.  Mucous membranes are clear, and there is no cleft lip or palate or other facial dysmorphisms.  The axillary and inguinal folds have multiple freckles; the chest and back have 6, darkly pigmented macules with smooth borders.  This patient's diagnosis is most commonly associated with which additional finding?

Quizplus · Accepted Answer

11ec25c8_d5b8_d5b0_bc81_e1e94f307297_MD0003_00 This patient who had seizure activity also has skin findings characteristic of neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant neurocutaneous disorder caused by mutations in the NF1 gene. Clinical features include multiple café-au-lait macules, axillary and inguinal freckling, Lisch nodules (iris hamartomas), and neurofibromas. café-au-lait macules axillary and inguinal freckling Lisch nodules neurofibromas Patients with NF1 are at increased risk of neurologic disorders (eg, cognitive deficits, learning disabilities, seizures), as seen in this patient, and intracranial neoplasms. Optic pathway glioma (OPG) is a tumor found in young children with NF1 that can cause vision deficits as the lesion expands and invades the visual pathway. Yearly ophthalmologic examinations screen for OPGs, and MRI of the brain and orbits is required for any vision changes. (Choice A) Acoustic neuromas (vestibular schwannomas) are tumors that typically develop bilaterally in patients with neurofibromatosis type 2 (NF2). Patients with NF2 do not have café-au-lait macules or axillary or inguinal freckling. (Choice B) Intracardiac rhabdomyomas are classically seen in patients with tuberous sclerosis, an inherited neurocutaneous disorder that presents with benign tumors in multiple organs. Classic features include ash leaf spots, angiofibromas, and shagreen patches. ash leaf spots (Choice D) Testicular enlargement in the setting of seizures raises concern for fragile X syndrome (FXS). FXS is an x-linked disorder characterized by intellectual disability, large ears, a long and narrow face, and macroorchidism (after age 8). Café-au-lait macules and freckling are not seen in FXS. fragile X syndrome (Choice E) Sturge-Weber syndrome (SWS) is characterized by a triad of port-wine stain on the face, ocular disease (typically visual deficits or glaucoma), and leptomeningeal capillary-venous malformation. Most patients with SWS have seizures due to these intracerebral vascular malformations. Educational objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disorder associated with café-au-lait macules and axillary and inguinal freckling. Patients with NF1 have an increased risk of seizures, learning disabilities, and optic pathway gliomas. References: Neurofibromatosis 1. (http://www.ncbi.nlm.nih.gov/pubmed/20301288) Optic pathway gliomas secondary to neurofibromatosis type 1. (http://www.ncbi.nlm.nih.gov/pubmed/28941532)

A 7-Year-Old Boy Is Brought to the Emergency Department After