audience statistics Histology collection videos 2021

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Educational objective: Lesions of the jugular foramen can result in jugular foramen (Vernet) syndrome, which is characterized by the dysfunction of cranial nerves IX, X, and XI. Symptoms include dysphagia, hoarseness, loss of gag reflex on the ipsilateral side, and deviation of the uvula toward the normal side.

A 67-year-old woman with a known history of lung cancer comes to the office due to hoarseness and difficulty swallowing. She has no disturbances in vision or hearing. On examination, there is loss of the gag reflex on the left side; when the patient is prompted to say "ah," the uvula deviates to the right side. a right lower lobe lung mass and several osteolytic rib lesions. MRI of the head also demonstrates multiple Her left shoulder is drooped and strength is reduced during left shoulder shrug testing. Chest x-ray shows lesions consistent with metastasis.

Educational objective: Tay-Sachs disease is an autosomal recessive disorder caused by [3-hexosaminidase A deficiency, which results in GM2 ganglioside accumulation. Key clinical features include progressive neurodegeneration and a cherry-red macular spot. In contrast to patients with Niemann-Pick disease, those with Tay Sachs disease have no hepatosplenomegaly.

An 8-month-old girl is brought to the office for evaluation of irritability and regression of motor skills. Her birth was unremarkable and she appeared to develop normally, but she can no longer sit or roll over. Her parents have also noticed that she startles easily with loud noises. Head circumference measurement is consistent with macrocephaly. Bilateral funduscopic evaluation shows a bright red fovea centralis that is surrounded by a contrasting white macula. Peripheral vision is decreased. Abdominal examination is normal.

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Educational objective: Neisseria meningitidis can cause sepsis and circulatory collapse in previously healthy young individuals. Lipooligosaccharide, a virulence factor in the pathogens outer membrane, is the major underlying cause of disease severity.

A 16-year-old girl is brought to the emergency department after she became unresponsive. Temperature is 39.7 C (103.5 F), blood pressure is 70/40 mm Hg, and pulse is 130/min and thready. There is a diffuse petechial and ecchymotic skin rash. Laboratory testing reveals leukocytosis with left shift and evidence of disseminated intravascular coagulation and multiorgan failure. Despite aggressive interventions, the patient dies several hours after admission. Autopsy reveals hemorrhagic necrosis of many internal organs, including the bilateral adrenal glands.

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Educational objective: Amyotrophic lateral sclerosis (ALS) causes both upper and lower motor neuron lesions. Loss of neurons of the anterior horns of the spinal cord (LMN lesion) causes muscle weakness and atrophy. Demyelination of the lateral corticospinal tract (UMN lesion) leads to spasticity and hyperretlexia.

A Caucasian male who suffers from a severe neurological disease dies of an overwhelming respiratory infection. Autopsy shows an atrophic precentral gyrus and thin anterior roots of the spinal cord. Light microscopy reveals a severe loss of neurons in the anterior horn of the spinal cord and in the hypoglossal and ambiguous cranial nerve nuclei; corticospinal tracts stain only faintly, indicating demyelinization.

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Educational objective: Myasthenia gravis is an autoimmune disease that causes a decrease in the number of functional acetylcholine receptors within the neuromuscular junction. This reduces the number of postsynaptic cation channels that can open in response to acetylcholine, which reduces the amplitude of motor end plate potential and prevents muscle fiber depolarization.

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A 62-year-old woman has double vision, especially when reading at bedtime. The problem first started several months ago and was intermittent but has worsened over the last 2 weeks and now bothers her constantly. The patient has also developed difficulty chewing and swallowing foods. She usually feels better in the mornings. She has no extremity weakness or sensory symptoms. The patient has no other medical problems and takes no medications. She does not use tobacco, alcohol, or illicit drugs. Vital signs are normal. BMI is 27 kg/m2• Examination shows bilateral ptosis; there is weakness of adduction of the right eye and abduction of the left eye. Muscle strength is 4/5 in proximal muscles in the upper and lower extremities. Deep tendon reflexes are 2+ throughout.

Educational objective: Tetrahydrobiopterin (BH.) is a cofactor used by hydroxylase enzymes in the synthesis of tyrosine, dopamine, and serotonin. Phenylketonuria can result from BH. deficiency due to dihydropteridine reductase deficiency. Intellectual disability is the hallmark of this condition and results in neurotransmitter (eg, serotonin) deficiency and hyperphenylalanemia. Treatment involves a low phenylalanine diet and BH. supplementation.

A 5-month-old boy is brought to the office by his parents who are concerned that he has developmental delay. He has 3 older siblings, and the parents report that his siblings were much more active and interactive at the boy's age. The family has just moved to the United States from South America and did not have consistent primary care previously. Physical examination shows that the boy is unable to roll from front to back or back to front and does not seem to recognize his parents. Comprehensive laboratory evaluation reveals impaired tetrahydrobiopterin synthesis.