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A 25-year-old college student presents with progressive headache, vomiting, and double vision. Examination reveals bilateral 6th nerve palsy and papilledema. CT brain shows hydrocephalus. CSF analysis reveals lymphocytic dominance, markedly low glucose, and elevated protein. What is the most likely diagnosis?
A 28-year-old woman with severe anorexia is admitted for nutritional rehabilitation. Within 48 hours of initiating enteral feeding, she develops muscle weakness, cardiac arrhythmias, and respiratory distress. Which metabolic abnormality is most characteristically responsible?
A 15-year-old boy presents with hypertension and salt-water retention. He is suspected to have 17-alpha hydroxylase deficiency. What is the expected serological profile?
A 10-year-old boy presents with excessive eating (hyperphagia) and obesity, with a BMI of 33. Genetic testing shows a deletion on chromosome 15. What is the most likely diagnosis?
A 66-year-old female has normal calcium, elevated PTH, low phosphate, and raised ALP. What is the diagnosis?
A neonate presents with prolonged neonatal jaundice, an umbilical hernia, and generalized hypotonia. Which of the following is the most likely underlying diagnosis?
A child diagnosed with Dravet syndrome is receiving multi-drug anti-seizure therapy and is being considered for add-on treatment with fenfluramine. Which of the following monitoring strategies is most critical before initiating and during the course of this therapy, given the known pharmacological adverse-effect profile of fenfluramine?
A neonate presents with differential cyanosis, characterized by pink upper extremities and cyanosed lower extremities. Which of the following congenital heart diseases is most likely responsible for this clinical presentation?
A female child had normal developmental milestones until 6-8 months of age, after which she developed progressive regression in language, social interaction, and adaptive behavior. The regression was accompanied by loss of purposeful hand use replaced by stereotyped repetitive hand-wringing or clapping movements, and deceleration of head circumference growth. Which of the following is the most likely diagnosis?
A 6-week-old infant with prolonged NICU stay with presentation of fever, lethargy, poor feeding with CSF analysis showing features of bacterial meningitis. Which of the following are responsible? a. Staphylococcus aureus b. Hemophilus influenzae c. Streptococcus pneumoniae d. Listeria Choose the correct answer: