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Mystery Series

Mystery Series. “ Moratorium on Mayhem Lest There be a Requiem”. Sir Arthur Conan Doyle. Karl T. Weber, MD. Rami Khouzam as…Sherlock Holmes Louisa Balazs as…Forensic advisor. Disclaimer.

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Mystery Series

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  1. Mystery Series

  2. “Moratorium on Mayhem Lest There be a Requiem” Sir Arthur Conan Doyle Karl T. Weber, MD

  3. Rami Khouzam as…Sherlock Holmes LouisaBalazs as…Forensic advisor

  4. Disclaimer • The use of the Webster’s, Oxford, Portuguese, Latin dictionaries have been used, in order to understand some of the tough words the writer chose to use • as well as some Medical Textbooks, and Websites...

  5. Moratorium:Suspension, freeze, halt, pause, cessation, standstill • Mayhem:Chaos, disorder, confusion, turmoil, anarchy • Lest There be:in case, for fear that • Requiem:Funeral song, hymn, lament, mournful chant

  6. “Moratorium on Mayhem Lest There be a Requiem” • Cessation of chaos for fear of hearing a funeral song !!!

  7. Bridging the Gap. Where Clinical and Basic Sciences Meet CPC: Moratorium on Mayhem Lest There be a Requiem Louisa Balazs, MD, PhD Associate Professor of Pathology Rami N. Khouzam, MD Fellow, Cardiovascular Diseases Karl T. Weber, MD Professor of Medicine

  8. A warm summer evening, June 25, 1965, and resident in medicine, Nick Pinheiro, was seated at his favorite tasca in Porto enjoying Portugal’s outstanding sea fare and a bottle of chilled vinho verdi. This had become Nick’s usual haunt on Friday evenings and he now knew most of the staff including Carlos, a waiter whose hoarse voice and slurred speech made deciphering the evening’s specials a challenge.

  9. A warm summer evening, June 25, 1965

  10. Vinho Verde (young wine) • Produced in the Minho region in the northwest of Portugal, mainly between the rivers Minho and Douro

  11. Portugal

  12. The name of Porto comes from the Roman name "Portus Cale" (from late Latin) ; the ancient port of Cale: the name of an early settlement located at the mouth of the Douro River The name of the country, Portugal, comes from that term too

  13. Tonight, Carlos was quite troubled, mumbling that sharp, shooting pains in his feet and deep stabbing pains in his calves made tending tables difficult. Also troublesome was brother Juan, a chef in Lisbon. Earlier in the week Juan was dismissed because too much salt had been added to meals he prepared. Carlos explained this was not because Juan was careless or that he had overindulged in his favorite wine. Instead, this incident was more likely related to Juan’s recent unsteadiness and faltering vision. Nick offered assistance, but Carlos politely declined and departed in a rather wide-based, stumbling gait.

  14. STARRING

  15. Nick Pinheiro: Resident Rami Khouzam as… Sherlock Holmes

  16. Carlos: Waiter

  17. Juan: Carlos’ brother, Chef

  18. Carlos’ Symptoms • Hoarse voice • Slurred speech • Sharp shooting pains in feet • Deep stabbing pains in calves

  19. Juan’s Symptoms Too much salt added to meals  Dismissed

  20. Juan’s Symptoms • Unsteadiness • Faltering vision • Wide-based, stumbling gait

  21. Friday next again found Nick dining at the tavern reflecting on several of his patients while gazing out at the River Douro. His reverie was interrupted by the clatter of fallen dishes. Not ten feet away stood an embarrassed, unsteady Carlos. Nick rushed to his aid. Carlos brushed the incident off as nothing more than a result of summer’s heat. Perhaps, too, he was weakened by diarrhea of several days’ duration, but this was an intermittent problem to which he had grown accustomed.

  22. Nick found Carlos’ pulse to be irregular and insisted he call an ambulance. A second episode of near syncope convinced Carlos that hospitalization was unavoidable. Nick wondered if this episode could be explained solely by fluid loss and subsequent orthostasis. Why arrhythmia? Perhaps there was hypokalemia. At the hospital, Nick found Carlos normotensive but indeed orthostatic and began intravenous fluids. Bedside ECG demonstrated right bundle branch block, left axis deviation and sinus rhythm with premature atrial contractions. Runs of atrial fibrillation were seen on rhythm strip.

  23. Carlos’ more Symptoms • Diarrhea (intermittent /? Chronic) • Irregular pulse • Near-syncope • Orthostasis

  24. Carlos’ right pupil was dilated with irregular outline and fringed edges; it did not react to light or accommodation. Thyroid nonpalpable; neck veins not distended; lungs clear. Cardiovascular examination did not reveal cardiomegaly, gallop, or murmur. Pain and temperature sensations in both lower extremities were blunted while position and vibration sensations were lost in feet and ankles. Given Carlos’ orthostasis, Romberg’s test would have to wait.

  25. Carlos’ Signs PE: - HEENT: Rt. pupil: dilated with irregular outline &fringed edges. No reaction to light & accommodation - Neck: Thyroid non-palpable, No JVD - Lungs: CTA - CVS: No cardiomegaly, gallop, or murmur - Neuro: Bilat. LEs: Pain & Temperature sensation: blunted Feet & ankles: Position & Vibration sensation: lost

  26. Adie’s pupil • - Constricts very slowly and incompletely, or not at all, to direct light and does not react to accomodation • - Degeneration of the ciliary ganglia and the postganglionic parasympathetic fibers that constrict the pupil and affect accommodation • - A manifestation of a mild dysautonomia and can also be associated with Shy-Drager syndrome, diabetes mellitus, and amyloidosis

  27. Pertinent laboratory tests revealed: hemoglobin 10 g/dL with 3.9 million red blood cells/cm3; normal white cell count and differential, normal serum electrolytes and creatinine, albumin, and glucose; negative serology for syphilis; urine negative for porphyrins and Bence-Jones protein; cerebrospinal fluid protein 200 mg/dL, otherwise negative.

  28. On rounds the following morning, Nick found Carlos sitting upright in bed with labored breathing and bilateral inspiratory rales on examination. A diuretic was given followed by sequential doses of oral digoxin over several hours. Why pulmonary congestion? Heart size and configuration on x-ray were normal. Since admission Carlos had received 3 liters of normal saline. Could he have occult constrictive pericardial disease? Perhaps intravascular volume was normal on admission and yet Carlos remained orthostatic.

  29. More Physical Signs • Dyspnea • Bilateral inspiratory rales • Ventricular extrasystoles (following Digoxin)

  30. Ventricular extrasystoles presenting as parasystole on bedside ECG were evident later in the day. In 1965, a parasystolic focus was thought to represent a ventricular ectopic site with fixed rate impulse generation and therefore having common inter-ectopic intervals, and a fusion of ectopic and normal foci known as fusion beats. Marriott HJ. Practical Electrocardiography. 1962

  31. Consuelo, Carlos’ 33-year-old frail and ill-appearing sister, came to visit him. Nick met with her in hopes of obtaining pertinent historical information and family history. Like Carlos and Juan, Consuelo too had become unsteady and walking was difficult, particularly at nights, when she often fell in attempting to reach the bathroom. And there was incontinence of urine and chronic constipation. She mused, “Doctor, all seems to be failing me.” Only this morning, in preparing for her visit, she scalded her right foot unable to gauge the temperature of her bath water. She also reported that their father had died suddenly at age 45. Prior to his demise he had complained of progressive weakness of his legs, nausea, vomiting and constipation.

  32. Consuelo: Carlos’ sister

  33. Consuelo’s Problems • Ill-appearing • Unsteady • Difficult walking • Urinary Incontinence • Chronic constipation • Temperature loss

  34. Carlos’ Father

  35. Carlos’ Father • Progressive legs weakness • Nausea/ Vomiting/ Constipation • Sudden death at age 45

  36. Nick had formed his differential diagnosis and was eager to discuss his thoughts on professor rounds. What is the likely diagnosis?

  37. Hoarse voice/ Slurred speech Faltering vision Sharp shooting pains in feet/ Temperature loss Progressive legs weakness Unsteadiness/ Stumbling gait Near-syncope Orthostasis Irregular pulse Nausea/ Vomiting/ Diarrhea/ Constipation Urinary Incontinence Ill-appearing sister Sudden death at age 45 Summary of Carlos’ family problems

  38. Systems affected… Inheritance AD (likely) Nervous System Impaired Proprioception/ Deep sensation/ Motor function Peripheral Neuropathy/ Ataxia ANS Orthostatic Hypotension Adie’s pupil Sphincteric disturbance (Urinary incontinence/ Diarrhea/ Constipation) CVS Arrhythmias Restrictive/ Constrictive Cardiomyopathy

  39. Diabetes Mellitus Riley-Day syndrome Vasculitis/ Connective tissue diseases Hyperthyroidism/ MEN Syphylis Lyme disease Leprosy Vitamin B12 deficiency Freidreich’s ataxia Fabry’s disease Acute Intermittent Porphyria Multiple Myeloma Sarcoidosis Amyloidosis Differential Diagnosis

  40. Diabetes Mellitus Inheritance Type I:Offspring & Sibling 1-6 %, type II: 33-38 %, MODY: AD Nervous System Multiple mononeuropathy Radiculopathy ANS Orthostatic hypotension Diarrhea/ Gastroparesis Bladder atony CVS Cardiomyopathy/ Arrhythmias Hyperglycemia Nephropathy/ Retinopathy

  41. Riley-Day Syndrome (Familial dysautonomiaHereditary sensory and autonomic neuropathy - type III) Inheritance AR, Ashkenazi jews Nervous System Impaired pain sensation Abnormal body temperature (high or low) Incoordination, unsteady gait Seizures/ Hypotonia ANS HTN (intermittent) Orthostatic Hypotension CVS …. Feeding difficulties/ Poor sucking/ Sweating while eating/ Vomiting/ Scoliosis

  42. Vasculitis/ CT disorders (SLE/ RA) Inheritance HLA related, Immune complexes Nervous System Peripheral Neuropathy/ Ataxia Seizures/ Psychosis ANS Orthostatic Hypotension CVS Arrhythmias Angina/ CAD Skin changes /Glomerulonephritis / Arthritis • Hematologic abnormality

  43. Hyperthyroidism/ MEN Syndromes Inheritance AD Nervous System Periodic paralysis, Chorea Nervousness, Irritability, HyperactivityInsomnia, Hand tremor ANS Orthostatic hypotension CVS Sinus tachycardia/ Atrial fibrillation Cardiomyopathy/Angina GI Diarrhea/ Nausea & Vomiting • Weight loss/ Increase appetite • Heat intolerance/ PTH & Ca

  44. Syphilis • Inheritance • ? Congenital • Nervous System • Tabes dorsalis (loss of deep pain & proprioception) Stamping gait General paresis/ Dementia/ Seizures Argyll-Roberston pupil • GI • Vague GI symptoms • CVS • Myocardial granuloma(gumma) • Aortitis/ vasculitis • Skin changes/ Lymphadenopathy/ Arthritis/ Glomerulonephritis • Positive serology

  45. Lyme disease Inheritance None Nervous System Radiculopathy Cranial neuropathy (Bell’s palsy) Meningoencephalitis ANS CVS Arrhythmias/ Myopericarditis AV Block GI Nausea/ Vomiting/ Abdominal pain Arthralgia/ Arthritis/ Lymphadenopathy

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