A 6-year-old girl presents with multiple café-au-lait spots and a plexiform neurofibroma on her left arm. Her father has a history of similar skin findings and was diagnosed with neurofibromatosis type 1 (NF1). Genetic testing confirms a mutation in the NF1 gene. What is the inheritance pattern of this condition?
A 28-year-old woman presents to the clinic with progressive hearing loss and occasional tinnitus. Her symptoms have been worsening over the past year. Her past medical history is unremarkable. On physical examination, she has normal findings except for bilateral hearing deficits. An MRI of the brain reveals bilateral vestibular schwannomas. Which of the following genetic mutations is most likely responsible for this patient’s condition?
A 4-year-old boy is brought to the pediatric clinic by his parents, who are concerned about multiple light brown spots on his skin that they have noticed since birth. The boy has no developmental delays or other complaints. On examination, he has 8 café-au-lait spots, each measuring ~1 cm in diameter, along with freckling in the axillary region. His father also has similar skin lesions and a history of benign skin tumors. Which of the following is most strongly associated with the presence of multiple café-au-lait spots in this child?
A 5-year-old girl presents with progressive vision problems and frequent headaches. Her parents report that she has been tripping over objects and complains of double vision. Physical examination reveals proptosis of the right eye. An MRI of the brain shows a mass along the right optic nerve. The child also has multiple café-au-lait spots on her trunk and axillary freckling. Question: Which of the following is the most likely diagnosis for the optic mass?
A 10-year-old boy with multiple café-au-lait spots and axillary freckling is evaluated during a routine eye examination. He has a family history of neurofibromatosis type 1 (NF1). On slit-lamp examination, the ophthalmologist identifies multiple small, pigmented nodules on the iris. The boy denies any visual symptoms. Which of the following best describes the eye findings observed in this patient?
A 6-year-old girl with neurofibromatosis type 1 (NF1) is brought to the pediatric clinic with complaints of progressive vision problems and headaches over the past 3 months. Her parents report that she frequently trips over objects and complains of double vision. On physical examination, she has proptosis of the right eye and decreased visual acuity. An MRI of the brain shows a tumor along the right optic nerve. Which of the following is the most likely diagnosis?
Mrs. Johnson is a 78-year-old woman with a history of hypertension, type 2 diabetes, insomnia, and anxiety. She presents to her primary care physician complaining of intermittent dizziness and a spinning sensation (vertigo) for the past two weeks. She describes feeling unsteady on her feet, particularly when standing up or turning her head quickly. Her current medications include lisinopril (for hypertension), metformin (for diabetes), zolpidem (for insomnia), lorazepam (for anxiety), and over-the-counter diphenhydramine (for occasional allergies). She takes all these medications daily, and her family reports she has seemed more forgetful lately. The physician suspects her symptoms may be related to polypharmacy, particularly involving central nervous system (CNS)-active medications. Question Which of the following medications is most likely contributing to Mrs. Johnson’s dizziness or vertigo?
A 29-year-old woman presents to the neurology clinic with episodes of “spacing out” for the past five years. She describes experiencing a sudden sense of déjà vu followed by an odd rising sensation in her stomach. During these episodes, she does not respond to others and makes repetitive lip-smacking movements. Her coworkers have noticed that after these episodes, she appears confused for several minutes. MRI shows hippocampal atrophy and hyperintensity in the left mesial temporal lobe. Which of the following findings is most characteristic of mesial temporal lobe epilepsy (MTLE)?
A 32-year-old woman arrives at the neurology clinic with a five-year history of recurrent seizures that have gradually increased in frequency. She describes experiencing an unusual sensation of déjà vu just before each episode, sometimes accompanied by a rising feeling in her stomach. During the seizures, she becomes unresponsive, staring blankly while making automatic movements such as lip-smacking and fumbling with her hands. Her husband, who has witnessed these episodes, reports that she remains unaware of her surroundings during these spells and does not respond when spoken to. After each event, she appears confused for several minutes and often asks repetitive questions. Concerned about the persistence of her symptoms, her physician orders an MRI brain scan, which reveals hippocampal sclerosis on the left side. An EEG is performed, showing interictal epileptiform discharges in the left anterior temporal region, confirming the diagnosis of mesial temporal lobe epilepsy (MTLE). Which of the following is the most likely diagnosis?
A 27-year-old right-handed male presents to the neurology clinic with episodes of “spacing out” and unusual sensations for the past 5 years. The patient describes experiencing brief episodes where he suddenly feels an intense sense of déjà vu followed by a rising sensation in his stomach. These episodes last 30–60 seconds, during which he sometimes notices odd smells that others do not perceive. He then becomes unresponsive for about a minute, staring blankly, and making repetitive lip-smacking movements. His family members have observed these episodes and note that he seems unaware during them. Afterward, he is confused and disoriented for several minutes, sometimes asking repetitive questions. The frequency of these events has gradually increased over the past year, occurring 2–3 times per week. About two months ago, he had a more severe episode where he lost consciousness and experienced generalized convulsions, prompting his visit to the clinic. Past Medical History •Febrile seizures at age 3 •No history of head trauma, stroke, or CNS infections Family History: No known family history of epilepsy Social History •Works as an accountant •No history of alcohol or drug abuse •No known toxin exposures Review of Systems •No headaches, visual disturbances, or focal neurological symptoms •No significant mood changes or psychiatric history Physical Examination •General: Well-appearing male, alert and oriented •Neurological Examination: •Cranial nerves: Intact •Motor and sensory function: Normal •Reflexes: 2+ throughout •Coordination and gait: Normal •No focal deficits Diagnostic Workup 1.EEG: Interictal epileptiform discharges in the left anterior temporal region 2.MRI Brain: shows hippocampal sclerosis 3.Neuropsychological Testing: Impaired verbal memory Which of the following is the most likely diagnosis?