24/07/2024 – Endo and Neuro

Question Easy:

A 54-year-old gentleman presents to the GP with fatigue, constipation, and muscle weakness. On examination, he is noted to have dry skin and bradycardia. What is the most likely diagnosis? 🩺

A) Hyperthyroidism
B) Hypothyroidism
C) Addison’s disease
D) Cushing’s syndrome
E) Pheochromocytoma

Question Easy Answer:
B) Hypothyroidism

Question Easy Explanation:
The symptoms listed, including fatigue, constipation, muscle weakness, dry skin, and bradycardia, are classic signs of hypothyroidism. According to NICE guidelines, the first line of investigation should be a serum TSH and free T4 to confirm the diagnosis.

Question Medium:

A 45-year-old female patient is brought to the emergency department with severe headaches, visual disturbances, and a bitemporal hemianopia. MRI imaging reveals a pituitary tumour. Which of the following hormonal deficiencies is most likely to be initially symptomatic?

A) Growth hormone (GH)
B) Adrenocorticotropic hormone (ACTH)
C) Prolactin
D) Thyroid-stimulating hormone (TSH)
E) Luteinizing hormone (LH)

Question Medium Answer:
B) Adrenocorticotropic hormone (ACTH)

Question Medium Explanation:
In pituitary tumours, ACTH deficiency often presents earliest because the hormone is crucial for stress response and maintaining homeostasis. Symptoms such as fatigue, hypotension, and hypoglycemia are due to adrenal insufficiency, which can be life-threatening. Management follows NICE guidelines, emphasizing the need for hormone replacement therapy.

Question Hard:

A 72-year-old man presents to the neurology clinic with progressive memory loss, apathy, and difficulty walking. Examination reveals hyperreflexia and myoclonus. MRI shows cortical atrophy and CSF analysis reveals 14-3-3 protein. What is the most likely diagnosis?

A) Alzheimer’s disease
B) Lewy body dementia
C) Creutzfeldt-Jakob disease (CJD)
D) Frontotemporal dementia
E) Parkinson’s disease dementia

Question Hard Answer:
C) Creutzfeldt-Jakob disease (CJD)

Question Hard Explanation:
Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder characterized by rapid progression, certain cognitive and motor abnormalities such as myoclonus, and the presence of 14-3-3 protein in CSF. NICE guidelines recommend immediate referral to a specialist for management as CJD rapidly progresses and requires supportive care.

Medical fact of the day: Silent thyroiditis can initially present with symptoms of hyperthyroidism followed by hypothyroidism, commonly occurring postpartum and might be mistaken for more severe psychiatric conditions.

Quote of the day: “In the heartbeat of healthcare, every pulse signifies hope, every diagnosis drives persistence, and every patient story inspires us to keep moving forward.”