A 35-year-old man with a 10-year history of mesial temporal lobe epilepsy presents with recurrent seizures despite being on levetiracetam for the past year. His seizures are characterized by déjà vu, followed by staring and unresponsiveness. His MRI shows left hippocampal sclerosis. What is the first-line pharmacological treatment for mesial temporal lobe epilepsy?
A 26-year-old woman presents with recurrent episodes of déjà vu, epigastric rising sensations, and brief loss of awareness. EEG shows epileptiform discharges in the right temporal lobe. She is started on carbamazepine, which successfully reduces her seizure frequency. However, during a follow-up visit, she reports excessive sleepiness, dizziness, diplopia and difficulty concentrating. Which of the following is the most likely cause of her symptoms?
A 4-month-old male infant is brought to the pediatric clinic by his parents due to concerns about rapid head growth and developmental delay. The parents report that the infant’s head size has been noticeably larger than normal since birth, and over the last month, they noticed that he has difficulty lifting his head and appears less active compared to other infants his age. He has also had poor feeding and irritability over the past week. Prenatal and Birth History: •No complications during pregnancy. •No significant family history of hydrocephalus or genetic disorders. •Delivered via normal vaginal delivery at 39 weeks. Birth weight and APGAR scores were within normal limits. Physical Examination: •Head circumference: >95th percentile for age •Cranial examination: •Bulging anterior fontanelle •Widened cranial sutures •Prominent forehead •Neurological examination: •Poor head control •Increased muscle tone and spasticity in the lower limbs •Positive Babinski reflex •No focal deficits •Developmental assessment: Delayed milestones (unable to lift head when prone) Diagnostic Tests: •Cranial ultrasound: Shows dilated lateral and third ventricles with a normal fourth ventricle. •MRI of the brain: Confirms aqueductal stenosis and ventricular enlargement. •Genetic testing: Positive for mutation in the L1CAM gene. What is the most likely diagnosis?
A 2-year-old boy with a known diagnosis of Bickers-Adams syndrome is brought to the clinic for follow-up. His mother reports that he has not achieved any developmental milestones and continues to have frequent seizures. On examination, you note macrocephaly, spasticity, and adducted thumbs. What is the most likely genetic mutation associated with this condition?
A 4-month-old male infant is brought to the pediatric clinic by his parents due to concerns about rapid head growth and developmental delay. The parents report that the infant’s head size has been noticeably larger than normal since birth, and over the last month, they noticed that he has difficulty lifting his head and appears less active compared to other infants his age. He has also had poor feeding and irritability over the past week. Prenatal and Birth History: •No complications during pregnancy. •No significant family history of hydrocephalus or genetic disorders. •Delivered via normal vaginal delivery at 39 weeks. Birth weight and APGAR scores were within normal limits. Physical Examination: •Head circumference: >95th percentile for age •Cranial examination: •Bulging anterior fontanelle •Widened cranial sutures •Prominent forehead •Neurological examination: •Poor head control •Increased muscle tone and spasticity in the lower limbs •Positive Babinski reflex •No focal deficits •Developmental assessment: Delayed milestones (unable to lift head when prone) Diagnostic Tests: •Cranial ultrasound: Shows dilated lateral and third ventricles with a normal fourth ventricle. •MRI of the brain: Confirms aqueductal stenosis and ventricular enlargement. •Genetic testing: Positive for mutation in the L1CAM gene. What is the most appropriate long-term management for this patient?
An 80-year-old man is brought to the clinic by his daughter due to progressive difficulty walking over the past six months. She describes his gait as slow and unsteady, with frequent falls. He has also developed urinary incontinence and mild memory problems. On examination, he has a wide-based, shuffling gait and difficulty initiating movement. Mental status testing shows mild cognitive impairment. MRI of the brain shows ventricular enlargement without significant cortical atrophy. Which of the following is the most likely diagnosis?
A 72-year-old male presents to the clinic with a 6-month history of progressive difficulty walking, frequent falls, and a noticeable decline in memory. His wife reports that he has also been experiencing episodes of urinary incontinence. On examination, you observe a wide-based, unsteady gait. Imaging studies reveal enlarged ventricles without significant cortical atrophy, raising suspicion for normal-pressure hydrocephalus (NPH). Which of the following triads of symptoms is most characteristic of normal-pressure hydrocephalus in this patient?
A 2-year-old boy is brought to the pediatric neurology clinic for evaluation of seizures and developmental delay. On examination, he has a port-wine stain on the right side of his face, extending from his forehead to his upper eyelid. MRI with contrast reveals leptomeningeal angiomas affecting the right cerebral hemisphere. Which of the following is the most likely underlying diagnosis?
A 6-year-old boy is brought to the pediatric clinic for evaluation of multiple light brown spots on his skin. His mother reports that she first noticed the spots when he was a baby, but they have increased in number and size over the past few years. On examination, the boy has 7 café-au-lait spots larger than 0.5 cm, axillary freckling, and several soft, fleshy nodules on his back. His father also has a history of similar skin lesions and underwent surgery for a tumor behind his eye. Question: Which of the following is the most likely diagnosis in this patient?
Patient Case: A 30-year-old woman presents with hearing loss in her left ear. MRI of the brain reveals a bilateral vestibular schwannoma (acoustic neuroma). She has no cutaneous findings or family history of similar symptoms. Question: What is the most likely diagnosis?