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A 5-year-old boy is seen in the clinic for seizures, vision loss, and progressive loss of milestones. MRI of the brain shows a posterior predominant leukodystrophy. Which of the following is the most likely diagnosis?
Which of the following genes is associated with Wilson’s disease?
A 6-year-old male is brought to the pediatrician with multiple-decaying teeth since 2-3 years of age with no associated pain. He was born via C-section at term with no complications. Past medical history is significant for developmental delay and intellectual impairment. On physical exam, the patient is short-statured and obese with hypogonadism. His parents state that he has always been an overeater. What is the most likely diagnosis?
An MRI brain is ordered for a 6-month-old male with failure to thrive, dystonia, and regression of developmental milestones. The T2 axial images are shown below. Which of the following is most likely the diagnosis?
A 15-year-old male is brought to his primary care doctor by his parents because of learning difficulties in school. Examination revealed several pigmented skin lesions (see below). Which of the following additional findings may be present on examination?
Primary generalized dystonia is a genetic disorder that can be seen secondary to a mutation of which of the following genes?
A 32-year-old man was recently admitted to the stroke service for an intracranial hemorrhage secondary to an arteriovenous malformation. In addition to his acute focal neurological deficits, the following skin lesions are appreciated (see image below). A genetic syndrome is suspected. Based on the most likely clinical diagnosis, what is the risk of his son having the same condition?
A mutation in which of the following genes would be most likely in a patient with numerous cavernous malformations seen on head imaging?
A 38-year-old man with long-standing migraines was recently hospitalized for an unprovoked seizure. Upon further questioning, the patient admits to a strong family history of headaches and early strokes. A brain MRI is completed and a T2 sequence image is shown below. This patient likely has a mutation in which of the following genes?
A 19-year-old woman presents for evaluation of paroxysmal episodes of vertigo, spasticity, diplopia, and ataxia. She reports that her father and one of her two sisters have similar ailments. At the time of the appointment, there was no diplopia or ataxia appreciated. Myokymia was appreciated on electromyography. Which of the following is the most likely diagnosis?
An 18-year-old male is brought to the clinic by his mother due to a 3-month history of personality changes. She states that during this time he has become increasingly rude and aggressive toward her. She also states that he was fired from his summer job last week after trying to steal from his boss. His father’s medical history is unknown. On examination, the patient has an ataxic gait and bradykinesia. His mental status exam shows impaired memory and language regression. Genetic testing of this patient would most likely show what?
Which of the following enzymes are deficient with Fabry Disease?