What do you notice on her PE protocol CT?
pictured below are the CT scan and the delayed image.
Why is she having pain?
Our patient had a calyceal rupture caused by a 2 mm stone. Calyceal or forniceal rupture is accompanied by urinary extravasation which can be seen on CT both in intraperitoneal and retroperitoneal areas. The majority of cases involve ureteral calculi but vascular compression from abdominal aortic aneursyms and malignancy have also been reported. Rarely, pregnancy can significantly obstruct the ureter, as well as a foley catherer balloon in one case.
75% of the stones causing rupture were distal, below the sacroiliac vessels. Calculi were small with a mean size of 4mm. Only 5% of patients in theGershman study showed signs of infection.
The physiologic reason for the rupture of the kidney is not known however it is presumed that pressure increases as the kidney increases in size, in accordance with Laplace’s law which states that the pressure tangent to the circumference of an object equals the product of the pressure across the wall and the radius of the object. It has been suggested that rupture protects the kidney by decreasing pressure in the collecting system.
Our patient was nauseated and given ondansetron and promptly developed the rhythm below.
She was treated with 4 gm of Mg ( goal of 2.5) and her K was raised to 4.0 . The polymorphic v tach resolved and she went to the OR where the stone was removed and a stent was placed in the R ureter.
She underwent a Left heart cath showing only 30% lesions so the final diagnosis was v tach secondary to QT prolongation and ondansetron. She had no further episodes of v tach and was discharged. And kudos to Phil who noticed the pelvic fracture. ( It had occurred earlier)
Gershman B, Kulkarni N, Sahani D, Eisner B. Causes of renal forniceal rupture, BJUI 2011. 108: 1909-1912.
Spurlock J, Burke T, Dunn N, et al. Calycealrupture with perirenal urinoma in a patient with cervical carcinoma.
Heffernan E, Skehan. Calyceal rupture secondary to ureteric obstruction by recurrent colorectal ca. Clin Nucl Med 2007;32:199-200.
Satoh S, Okuma A, Fuita Y, Tamaka M, Nakano H. spontaneous rupture of the renal pelvis during pregnancy: a case report and review of the literature. Am J Perinatology 2002;19:189-95.
Our patient had Ehrlichiosis.
Tick-borne rickettsiae in the genera Ehrlichia (lone star tick)and Anaplasma ( Ixodes tick) are intracellular bacteria that infect animals and man. They present with a febrile illness. The first case of human granulocytic anaplasmosis (HGA) was recognized in Duluth Minnesota in 1990. Ehrlichia chaffensis was first describe in 1987 at Fort Chaffee Arkansas when it was found among military recruits. Missouri, Arkansas and Oklahoma account for over 1/3 of the cases of Ehrlichia in the US. The reservoir of the disease is white tailed deer.
Both Ehrlichia(HME) and Anaplasmosis(HGA) have similar presentations including fever, headache, leukopenia, thrombocytopenia and elevated liver enzymes. Lung infiltrates, noncardiogenic pulmonary edema and ARDS can be seen on CXR. CSF pleocytosis is identified in 60% of patients who undergo lumbar puncture. Symptoms begin a median of 9 days after an infected tick bite. Neurologic manifestations are most frequently reported with Ehrlichia.
Ehrlichia is also an important veterinary pathogen. It was first described inAfrica in 1935 and is transmitted by the brown dog tick.
The gram negative bacteria infects granulocytesand replicates in the membrane bound compartments of granulocytes and monocytes. They form colonies called morulae derived from the Latin word :”morus” for mulberry. They can be seen in peripheral blood leukocytes. Up to 17% of patients develop life threatening complications although they are much more likely in immunocompromised patients like ours.
Our patient developed hemophagocytic lymphohistiocytosis (HLH) which is a generalized reaction of the immune system where a proliferation of morphologically benign lymphocytes and macrophages secrete high amounts of inflammatory cytokines. It is classified as one of the cytokine storm syndromes. Rbcs can be seen in within macrophages in the marrow. It is characterized by high ferritin, cytopenia, fever and splenomegaly and is treated with steroids. Our patient not only received treatment with doxycycline for Ehrlichia but also received steroids for HLH. She was on hemodialysis for renal failure and was eventually transferred to rehab after being in the hospital for two months.
Howard Ricketts, was a pathologist for whom these organisms were named. Ricketts was devoted to his research and on several occasions injected himself with pathogens to study their effects. In 1910 he discoveredthe cause of murine typhus and days after isolating the organism, he himself died of the disease.
Ismail N, Bloch K, McBride J. Human Ehrlichiosis and Anaplasmosis. Clin Lab Med. 2010 30(1); 261-292.
Paddock CD, Sumner JW, Shore GM, et al. Isolation and characterization of Ehrlichia chaffeenisis strains from patients with fatal ehrlichiosis. J Clin Microbiol. 1997;35:2496-2502.
Demma LJ, Holman RC, McQuiston JH. Human monocytic ehrlichiosis and human granulocytic anaplasmosis in the United States, 2001-2. Ann NY Acad Sci 2006;1078:118-9.
She had chest pain following cpr and pneumomediastinum was noted.
Something else was noted on the barium swallow; what was it?
Our patient had a ruptured stomach after CPR. On the image shown it looks like there is contrast in the stomach which is actually in the lesser sac. There is also free air over the dome of the stomach. Gastric rupture has been reported following both CPR and the Heimlich procedure.The lesser sac is a space behind the stomach which can be seen below.
CPR has been associated with injuries in between 21 and 65% of cases. CPR complications are often encountered during the medico-legal postmortem examination and sometimes it is not clear if they contributed to the death. Rib fractures are common, with liver rupture, gastric rupture and cardiac rupture being less common. More commonly, hemopericardium, epicardial hematoma, myocardial contusion, and rupture of the vena cava close to its junction with the R atrium are the cardiac injuries reported.
Presumably, many CPR associated injuries are never discovered since the patients do not have an autopsy.
Our patient was resuscitated by her boyfriend with CPR and developed severe abdominal pain over the next six hours. After the swallow showed no esophageal injury but free air in the abdomen; the abdomen was opened anda 3 cm rent in the posterior fundus of the stomach was seen. Bile and fibrinous material was irrigated from the abdomen, the defect was excised, and the wound stapled. G and J tubes were placed and the patient was sent home with them in place to be removed in two weeks.
Case courtesy of Keith Naunheim
Fearing MN, Harrision PB. Complications of the Heimlich maneuver: case report and literature review. J Trauma 2002; 53(5): 978-9.
Tattoli L, Maselli E, Romanelli MC et al. Complete cardiac Rupture associated with closed chest cardiac massage: case report and review of the literature. J Rorensic Sci 2014;59(2):564-567.
Kusunokia S, Tanigawab K, Kondoa T, Kawamotoa M. Safety of the inter –nipple line hand position landmark for chest compression. Resuscitation. 2009;80:1175-1180.
Darok M. Insuries resulting from resuscitation procedures. In: Tsokos M, editor. Forrensic Pathology Reviews, Vol1. Totowa, New Jersey Humana Press; 2004. P. 1175-1180.
Hanganu B, Neagu M, Iorga M, et al. Cardiac rupture during cardio-pulmonary resuscitation case presentation and literature data. 2017Romania Journal of Leg Med (25)44-48.
What is the differential?
Our patient had been treated for syphilis the day before arrival with penicillin. She was suffering from a Jarisch-Herxheimer reaction. This is a reaction to the endotoxin released by the death of spirochetes after treatment of syphilis. It occurs in 50% of patients with primary syphilis and 90% of patients with secondary syphilis.
The reaction is a sepsis mimic because it presents with fever, hypotension, headache, tachycardia, worsening skin rash and tachycardia.
Other diseases caused by spirochetes can cause the same reaction: Lyme disease, relapsing fever, and leptospirosis. It has also been reported after treatment of Q fever, bartonellosis, brucellosis, trichinellosis and African trypanosomiasis.
St. Louis as of 2016 still ranks number one with the highest rates of STDs per capita. It is known as a "condom desert" since fewer stores carry condoms than in most cities in a study done by St. Louis University. Our patient was treated symptomatically with fluids and pain medication with resolution of her symptoms.
Lukehart, S (2017) Syphilis. In Kasper , DL; Fauci, A. Harrisons’ Infectious Diseases (3rd ed) New York: McGraw-Hill p666. ISBN 978-1-259-83579-1
Butler T (2017) The Jarisch-Herxheimer reaction after antibiotic treatment of spirochetal infections: a review of recent cases and our understanding of pathogenesis. Tropical Medicine and Hygiene. 96(1):46-52. PMID 28077740
What is it?
Our patient had juvenile laryngeal papillomatosis. This is caused by a human papillomavirus infection of the throat (types 6 and 11). HPV can activate the epidermal growth factor receptor pathway and inactivate tumor-suppressor proteins resulting in ‘cauliflower-like’ growths in the airway. Without treatment it is potentially fatal and often requires repetitive surgery to prevent airway obstruction. The disease is most commonly found in children and may be caused by an infant contracting HPV from the mother in the birth canal during vaginal delivery. It is often misdiagnosed as asthma in children. Since the HPV vaccine includes HPV 6 and 11, it is expected to prevent genital infections among women and thus prevent secondary laryngeal infections to newborns which can lead to laryngeal papillomatosis. A second form of papillomatosis occurs in adults usually in their 30s which appears to be less aggressive.
Papillomatosis has the potential for malignant transformation to squamous lung carcinoma with a dismal prognosis. HPV11 is associated with greater risk of producing lung ca than HPV 6. These are often manifested by “drop metastases” where the virus drops into the airway and lodges in the lung where it transforms into a carcinoma. Fortunately, only 1% of papillomas undergo this transformation to squamous cell cancer.
The tumors can be treated with photodynamic therapy where physicians inject a light-sensitive dye that is only absorbed by the tumors and then the physician activates the dye using a bright light which destroys the tumors. Antiangiogenic therapy is also used. Atopical treatment with anti=vascular endothelial growth factor (VEGF) antibody bevacizumab is used to paint the tumors and since many express VEGF-A there is a significant reduction in tumor burden.
James, WD, Berger Timothy G, et al . Andrews’Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 0-7216-2921-0
Recurrent Respiratory Papillomatosis National Institute on Deafness and Other Communication Disorders 2011.
Mohr, M, Schliemann c, Biermann C, Schmidt L. et al. Rapid response to systemic bevacizumab therapy in recurrent respiratory papillomatosis Oncology Letters 8(5) 1912-1918. Doi 10.3892/ol.2014.2486.
Ahn J, Best S. 2016 Adjuvant and novel treatment of recurrent respiratory papillomatosis. Current Otorhinolaryngology Reports 4 (2) 67-75.
Katsenos S, Becker H. Recurrent Respiratory Papillomatosis: A rare chronic disease, difficultto treat with potential to lung ca transformation; Case Reports in Oncology. 2011p4:162-171
Our patient had a brown recluse spider bite six days pta. He developed severe pain over the area of the bite and hemolysis. He presented with sublingual jaundice and a hct of 16.
Classic "violin" pictured above
The brown recluse venom contains spningomyelinase D, alkaline phosphatase, lipase, hyaluronidase, deoxyribonuclese and ribonuclease. Since Spingomyelinase D is temperature dependent, application of cool compresses may limit necrosis. There are no other proven treatments other than supportive. The brown recluse is not an aggressive spider but will bite if it feels threatened. The initial bite is painless but within several hours an intense pruritus and pain occur from local vasospasm. Systemic symtoms include, fever, hemolysis, DIC, renal failure , seizures and coma. The two poisonous spiders of North America are the brown recluse and the black widow.
While the brown recluse has predominately skin necrosis effects, the black widow possesses a neurotoxin. Alpha-latrotoxin which stimulates motor endplates causing neurologicand autonomic dysfunction. Antivenom is available however there is a risk for allergic reaction to it with one reported case of death.
While the brown recluse and black widow are not aggressive, this is not the case with spiders in much of the world. The wandering spiders, in the genus Phoneutria, are the most aggressive and venomous spiders in the world. They roam the jungle floorsin Central and South America at night looking for food. Their venom contains a neurotoxin that cases paralysis and asphyxiation, with intense pain and inflammation. In males, priapism may result. There is an antivenin.
Funnel-web spiders ( genera Hadronyche and Atrax) are venomous spiders from Australia . They create funnel-like burrows in which to trap prey. Their venom is a delta-atracotoxin(robustoxin ) which is neurotoxic. While the most common complication of a bite is pain; they have been know tocause fasciculations, pulmonary edema, and coma. An antivenin is available.
Another common spider of North America is the yellow sac spider. They are attracted to the smell of gasoline and weave webs inside the canister vents of Mazda vehicles resulting in blockages which may cause fuel leakage. Because of these spiders Mazda 6 models built between 2010 and 2012 were recalled to fit them with software that alerts drivers of problems.
Our patient was admitted to the ICU and required 7 units of blood for ongoing hemolysis. He was found to have stress ulcers on endoscopy though they were not bleeding. He recovered and was discharged.
Centers for Disease Control and Prevention Workplace safety & health topics;
Vetter RS, Isbister GK, Bush SP, Boutin LJ 2006 Verified bites by yellow sac spiders in the United States and Australia where is the necrosis? Am J Trop Med Hyg 74(6) pp 1043-49.
Spider invasion prompts Mazda software fix. BBC7 April 2014.
Howell W, Jenkins M, Ronald L. 2004 Spiders of the US: a photographic guide. ISBN 0-536-75853
His CXR is shown below. What happened?
Our patient had eosinophilic pneumonia from smoking meth. Classically, the pneumonia is peripheral; the opposite of the bat-wing pattern of pulmonary edema, and there is a peripheral eosinophilia. He initially presented with a sat of 72%. ABG on 15 liters was pH 7.43 PCO2 32 and PO2 59.
Medications, substance abuse and environmental exposure may all cause eosinophilic pneumonia. Drugs which frequently cause eosinophilc pneumonia include: ampicillin, phenytoin (Dilantin), ibuprofen, and daptomycin. Inhaled substances and cigarette smoke can also cause it. A firefighter who rescued people during 9/11 in the World Trade Center attack contracted eosinophilic pneumonia. Eosinophilic granuloma (Langerhans cell histiocytosis) is related to smoke inhalation from cigarettes as well.
Parasites can also cause eosinophilic pneumonia either by living in the lung as part of their life cycle (ascaris, strongyloides and hookworms), migrating to the lungs (paragonimiasis, echinococcus, taenia), or depositing massive numbers of eggs in the lungs through the bloodstream (trichinella, schistosomes, strongyloides, and ascaris) .
Automimmune diseases like eosinophilic granulomatosis with polyangitis or Churg-Strauss also result in eosinophilic pneumonia. The early stages of this disease is marked by asthma, followed by eosinophilia and then vasculitis of the lungs and GI tract.
Our patient remained hypoxic and did not tolerate BiPaP, and he was switched to CPAP and remained on this for two days. His IV solumedrol was changed to prednisone. He was started on azithromycin, ceftriaxone, and linezolid which was switched to Cipro at discharge. His CXR cleared dramatically and he was discharged on the third hospital day.
Bain GA, Flower CD. Pulmonary eosinophilia Eur J Radiol 1996 23 (1) 3-8.
Rom WN. Weiden M, Garcia R et al Acute eosinophilc pneumonia in a New York City firefighter exposed to World Trade Center dust. Am J Respir. Crit Care med 2002. 166(60 797-800.
Watanabe K, Shinbo T, Kojima M, et al. B-cell lymphoma associated with eosinophilia. 1989 Cancer 1564(8): 1682-5.
Swartz J, Stoller JK. Acute eosinophilic pneumonia complicating Coccidiodes immitis pneumonia: a case report and literature review. Respiration 2009. 77(1):102-6.
and something wrong with his bones
Our patient had Erdheim-Chester disease. This is a rare form of non Langerhan’s cell histocytosis in which histiocytes( tissue macrophages) proliferate in the entire body with predilection for : marrow, pericardium, bones, pituitary and lung. The histiocytes are lipid laden and can form nodules in the tissues with fibrosis surrounding. It was first described in 1930 by William Chester during his visit to the Austrian pathologist Jakob Erdheim in Vienna.
The disease usually occurs in middle-aged patients and can manifest in a variety of ways. Manifestations run the gamut between a focal asymptomatic process where patients can present only with leg pain (from metaphyseal sclerosis) to a fatal systemic disease that involves all organ systems. About half of the patients diagnosed have multifocal disease: fever, orbital tumors, lung fibrosis, pericardial infiltration, pituitary involvement or urinary tract obstruction from retroperitoneal fibrosis .
A key to the diagnosis can be the infiltration of the pituitary although Inflammatory, infectious, granulomatous and neoplastic diseases of the pituitary can also cause pituitary infiltration. Tuberculosis, sarcoid, lymphoma and lymphocytic hypophysitis (which has been linked to autoimmune disease) are common causes.
Previous options included steroids or interferon, but half of the patients have point mutations of the BRAF gene at codon 600 substituting glutamine for valine. Vemurafenib, which has been approved to treat the BRAF mutation for melanoma, also works for Erdheim-Chester disease and is currently the treatment of choice. Our patient is currently undergoing testing to see if he has the BRAF mutation. It is not clear if years of immune suppression led to the mutation.
Haroche J, Cohen-Aubart F, Emile JF, ArnaudL, Maksud P, et al. Dramatic efficacy of vemurafenib in both multisystemiC and refractory Erdheim-Chester disease harboring the BRAF V600E mutation. Blood 121(9))1495-500.
Erdheim-Chester disease at the United States National Library of Medicine http://www.nlm.nig.gov/cgi/mesh/2003/MB-cgi?term=ERDHEIM-CHESTER=DISEASE.
Verdalles U, Goicoechea M, Garcia de Vinuesa S, et al. Erdheim-Chester disease: a rare cause of renal failure2007 Nephrol Dial Transplant. 22(6):1776-77.
Contemporary Endocrinology Vol 3. McDermott, M. Diseases of the Pituitary: Diagnosis and Treatment, Edited by ME Wieman Humana Press, Inc., Totowa, NJ. 305
What illness could she have?
Our patient had an illness caused by the Bourbon virus. This is a tick borne illness discovered in 2014 and named after Bourbon County in eastern Kansas where a man developed the index case after being bitten by ticks. He presented with a flu-like illness and later died. Our patient removed two ticks from her body several weeks before she was admitted to the hospital with somnolence, fevers, myalgias and a rash.
Rocky Mountain spotted fever map above. .
Lyme disease map above.
Tick borne diseases in Missouri also include Rocky Mountain spotted fever , tularemia,,heartland virus, Ehrlichia, and lyme disease. Where Rocky Mountain spotted fever had been reported most often in the southeast; there were 229 cases reported in Missouri in 2017. The number of cases of Erhlchia is also rising with 149 reported cases. Tularemia is not only found in ticks but also in rodents and rabbits. It can be aerosolized with reported illness in a person who ran over a dead rabbit with a lawn mower. ( Francisella tularensis is very infectious with 10-50 organisms causing disease and is a candidate for possible weaponization) If contaminated animals inhabit a site, even a lawn, there have been cases of tularemia reported after mowing the lawn. Of the 200 or so cases reported each year, Arkansas, Missouri, Kansas and Oklahoma claim the most cases.
Heartland virus was discovered in Missouri at Heartland hospital near St. Joseph in 2009 when two farmers were infected and did not respond to doxycycline. Their sera was sent to the CDC and a new virus was confirmed.
None of the reported incidence of tick borne disease is likely to be accurate since most people have a mild illness and do not seek medical attention. It is a good thing that tick borne illness is often mild since ticks are a world wide vector of disease. Two cases of Crimean- Congo hemorrhagic fever were reported from near Madrid in the July 13, 2017 New England Journal of Medicine. This is a particularly virulent tick borne illness in which the first patient presented with fever and malaise, developed a coagulopathy and died. The second case reported was the nurse who assisted with the intubation and central lines of the first patient. She developed fever and coagulopathy. She was treated with ribavirin and developed hemolytic anemia but eventually recovered after 22 days.
Our patient had a complicated course . Her past history included follicular lymphoma which had been treated. She developed encephalopathy, mouth ulcers, acute respiratory failure, hemophagocytic lymphohistiocytosis, pancytopenia and shock. She died three weeks after admission.
Feldman KA, Enscore RE, Lathrop SL, et al. an outbreak of primary pneumonic tularemia on Martha’s Vineyard. N Engl . J Med 2001. 345(22): 1601-6.
Negredo A, de la Celle-Prieto F, et al. Autochthonous Crimean-Congo Hemorrhagic Fever in Spain. NEJM 2017 377;2: 154-161.
Our patient had Sweet’s disease or acute febrile neutrophilic dermatosis. It is characterized by tender red, papules and plaques that show dense infiltrates of neutrophils. It was first described by Robert Sweet in 1964 and four criteria have to be met to diagnose the disease: fever, leukocytosis, tender red plaques, and a dermal infiltrate of neutrophils. Often patients with the disease are treated several times with antibiotics for cellulitis/abscess and they do not improve because the treatment is steroids. In addition to the raised plaques pts present with fever in 50% ofcases, arthritis in 62% of cases and eye findings in 38% of cases.
It is classified by the setting in which it occurs either malignancy associated, drug induced or idiopathic.
20% of the cases are associated with malignancy. It can also be associated with strep infections, inflammatory bowel disease, rheumatoid arthritis, and pregnancy. Drugs that cause it include granulocyte colony-stimulating factor and granulocyte-macrophage colony-stimulating factor. It is thought to represent a hyperactive immune response in response to a systemic process. Steroids dramatically improve the condition in 72 hours presumably suppressing dysregulated cytokines.
The differential of Sweet’s includes: pyodermagangranosum which appears as purple colored ulcers, erythema multiforme which appears as red spots on the hands, feet and face( often in rings) and erythema nodosum which appears as raised plaques.
The process usually lasts 2-4 weeks and can recur in one third of the patients. In our patient, treatment with steroids caused resolution of the rash and he has not had a recurrence.
Mustafa MN, Lavizzo M. Sweet’s syndrome in a patient with Crohn’s disease: a case report. J Med Case Reports 2008 2:221.
Cohen PR. Sweet’s syndrome-a comprehensive review of an acute febrile neutrophilic dermatosis. Orphanet Journal of Rare Diseases 2(34).
Sweet RD An acute febrile neutrophilic dermatosis. Br J Dermatol. 1964 76:349-56.
Our patient had nephrogenic diabetes insipidus from Lithium. She had texted her mother and told her she had taken 160 pills. Her mother found her in the basement in a pool of urine with empty bottles of Lithium( which she had been prescribed a year earlier) and clonazepam. The reason she was in a pool of urine is that Li causes nephrogenic diabetes insipidus. Her urine was very dilute with a specific gravity of 1.004. In the ED she was rousable to painful stimuli and began to vomit so was intubated for airway protection. She continued to make large volumes of dilute urine after her admission to the ICU.
The name insipidus comes from the old practice of tasting urine to determine the cause of illness. Unlike diabetes mellitus which results in sweet urine, diabetes insipidus creates watery flavorless urine. (tasting urine is no longer recommended). The word diabetes comes from the Greek diabainein ”to pass through” and refers to the excessive amounts of urine in both conditions. In diabetes insipidus more than 2.5 L of urine is produced per day. Li is the most common drug implicated in nephrogenic DI with50% ofpeople on Li chronically developing dilute urines. It is more common in chronic overdose but has been reported with acute overdose.
Nephrogenic DI is caused by conditions affecting aquaporin(porous to water) channels in the tubules which allow water resorption. Aquaporin 2 (AQP2) in the kidney is usually dormant in the intravesicular membrane. When it is needed, vasopression ( antidiuretic hormone) cases the vesicles containing aquaporin to fuse to the membrane and release aquaporin which happens in water retaining states like pregnancy and chf. Li, however, decreases the expression of the AQP2 gene preventing the absorption of water.
Persons with nephrogenicDI need to consume amounts of fluid equal to the amount excreted but they excrete more water than sodium so serum osmolarity increases which stimulates thirst. Thiazide diuretics are often given to allow increased excretion of sodium, decreasing serum osmolarity and therefore decreasing thirst. This breaks the polydipsia-polyuria cycle. In the case of our patient she was producing 300 cc of urine per hour for several days and these fluids were replaced.
Our patient remained somnolent/intubated because of the clonazepam overdose and although her initial nasal swab was negative for staph, she developed MSSA pneumonia and remained intubated for 8 days. She was extubated on the 8th day and is now alert and oriented agreeing to psychiatric admission.
Clinical pearls: serum lithium levels do not correlate well with clinical findings. Our patient’s Li level rose only to 1.5and yet she had profound polyuria. If sodium rises desmopressin can be given to correct the electrolyte abnormalities. Dialysis is helpful with neurologic toxicity which usually occurs with a Li level of 3 or greater.
Wildin R. What is nephrogenic diabetes insipidus? 2006. The diabetes Insipidus Foundation http://www.diabetes insipidus.org/4-types-nephrogenic-di.htm
Erden A, Karagoz H, et al. Lithium intoxication and nephrogenic diabetes insipidus: a case report and review of literature. Int J Gen med 2013;6:535-539.
Alexander MP, Farag YMK, et al. Lithium toxicity: a double-edged sword. Kidney Int. 2008;73:233-7.
Our unfortunate patient had familial prion disease which results in the destruction of the thalamus and corpus striatum. There is no cure for this condition and it is uniformly fatal.
The gene for prion protein (PRPc) isfound in all mammals and appears on chromosome 20. It can spontaneously mutate as in our patient or a malformed protein can be acquired by eating infected protein. When prion proteins are malformed (PRPsc) they act like viruses and cause other prion proteins( or alpha-synuclin) to be misfolded as well. This makes them unique since all other infectious agents contain nucleic acids ( DNA or RNA) .
Prions were initially identified as the causative agent in acquired prion diseases in animals such as scrappie in sheep and bovine spongiform encephalopathy ( mad cow disease). In humans it causes Creutzfeldt-Jakob disease , fatal familial insominia and kuru. After crossing the blood brain barrier, the abnormal prion proteins are reproduced in the endoplasmic reticulum of the cell and cause misfolding of other normal prion proteins. They then migrate to the surface of cells where they form amyloid plaques which disrupt structure and cause “holes” in the tissue because of vacuoles in the neurons.
The acquired form of prion disease kuru( which means to shake) was frequent in New Guinea where the Fore people historically ate the brains of dead relatives. When the Fore people stopped eating human meat about 50 years ago, the disease lingered due to its long incubation period. The last known kuru victim died in 2009. Interestingly, in studying the epidemic, some people were found to be immune, suggesting that a long period of cannibalism had allowed the development of resistance.
The incubation period for prion disease is 5-20 years but once symptoms occur it rapidly leads to brain damage and death.. The striatum coordinates cognition including decision making, motivation and action planning. The loss of these parts of the brain results in dementia, ataxia, memory loss and seizures. Our patient was counselled as to her prognosis .
The disease affects one in a million people. Although rare, it is thought that alzheimer’s may also act in a prion like fashion which makes a cure for prion disease the “holy grail” of neurodegenerative research.
Alberti S, Halfmann R, King O, Kapila A, Lindquist S A systematic survey identifies prions and illuminates sequence features of prionogenic proteins Cell 2009. 137(1) 146-58.
Prusiner SB Molecular biology of prion diseases Science. 1991 252 1515-1522.
Alpers, M. A history of kuru. 2007 Papua and New Guinea Medical Journal 50 (1-2) 10-1p
What is the differential
Our patient has bilateral parotid enlargement from Sjogren’s syndrome . He had painless bilateral enlargement of the parotids over one day. He had a similar unilateral event several years pta which resolved spontaneously. On arrival he spiked a temp to 39 and was treated as bacterial parotitis although cultures from Stensen’s duct were negative. He had ANA + 1:2500, RF 250, sed rate 99, ENA +, ENA SSA+ and anti Jo -.
The differential of bilateral parotid swelling is extensive although it can be divided into obstructive(related to stones), infectious , malabsorption related (pancreatitis) and immune. Bacterial causes that are related to a stone in the ductare painful and most commonly in females. Viral infections are often caused by mumps , cocksackie, or HIV. There is a chronic parotitis which occurs in children age 2-7 which is painless.
Wegeners and Sjogrens are the immune diseases most commonly causing parotid enlargement. Kimura’s disease is bilateral parotid enlargement with elevated IgE and eosinophilia. Tumors can also cause bilateral parotid enlargement specifically Warthin’s tumor, as well as benign masseteric enlagement .
Radiation, specifically radioactive iodine and pneumoparotid caused by blowing a wind instrument can also cause parotid swelling.
Sjogrens syndrome as in our patient, usually results from parotid and salivary gland involvement with dry eyes and dry mouth. Extraglandular manifestions of Sjogrens can includebiliary cirrhosis, pulmonary interstitial disease, renal disease and peripheral neuropathy. 5% of these patients develop B cell lymphoma.
Treatment of the disease is symptomatic , with artificial tears and throat lozenges for dry mouth. Immunosuppression is not recommended. Our patient was treated symptomatically after a short course of antibiotics and has remained asymptomatic.
Mandel L, Surattanet F, Bilateral parotid swlling : a review. Oral Sug Oral Med Pathol Oral radiol 2002.93: 221-232.
Gadodia A, Bhalla A, Sharma R, Thakar A, Parshad R. Bilateral parotid swelling: a radiologic review. Dentomaxillofac rad 2011Oct 40(7) 403-414.
Yousem DM, Krout MA, ChalienA. Major salivary gland imaging Radiology 2000;216: 19-29
his cxr is shown below
He was treated for RML pneumonia with levofloxacin and symptoms resolve but return in 3 weeks with the xray below.
Our patient had coccidiomycosis in a pulmonary form which led to “phantom” infiltrates. These repeated pneumonias are a classic pulmonary presentation for the fungal infection.
Coccicdiomycosis is a fungal disease native to the Americas. It is caused by two fungi: C. immitis and C. posadasii which are endemic to the southwestern US, northern Mexico and central and South America.
It was first described in 1892 in a soldier in Argentina. The illness in the US was found with increasing prevalence when immigrants moved to California after the dustbowl in the 1930’s. The first effective therapy was not found until 1957 when IV amphotericin was used.
Initial infection can occur from inhaling a single spore of the fungus which then rapidly multiplies in the lung over 48-72 hours. 60% of people are asymptomatic with this infection because the fungus is destroyedby macrophages. It can , however, cause a flu-like illness or pulmonary disease including infiltrates as in our patient, nodules or even cavitary lesions which can rupture into the pleural space causing pneumothoraces or effusions. Only 1% of healthy individuals go on to develop disseminated coccidiomycosis(although this number is higher in the immunocompromised) . Disseminated disease can result inosteomyelitis, arthritis, meningitis or transplacental infection in a pregnant woman. Disseminated disease can also present with skin infections including abscesses, granulomas , ulcers or rashes often of the nasolabial folds. Disseminated infection may require years of antifungal treatment at a cost of $5,000-12,000 per person per year.
Coccidiomycosis is found with increasing frequency in Arizona where 80% of the population who have lived there for five years is positive for coccidiomycosis.
Our patient had been hiking in Arizona and presumably this is where he acquired the disease. He was treated successfully with antifungals and had no recurrence of the disease.
Amstead GM, Graybell JR. Coccidiomycosis Infect Dis Clinic N AM 2006 20: 621-43.
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Increase in reported coccidiomycosis in the United States 1998-2011. MMWR. Morb Mortal Wkly Rep 2013 March 29 62(12): 217-21.
What do you see on the CXR that might explain her confusion?
Our patient had a stroke most likely caused by embolic phenomenon after an aortic injury. This is not the usual transection since it also involved the subclavian artery with non occlusive thrombus in the proximal vessel. Strokes are more commonly associated with aortic dissection
than transection and have even been reported after being struck in the chest with the recoil after firing a rifle.
The aortic injury is seen in this image with a mediastinal hematoma surrounding.
Acute traumatic rupture of the aorta accounts for 18% of all deaths in auto accidents. The most common site of rupture is the proximal descending aorta near where the subclavian branches off. This is where the remnants of the ductus arteriosus are located; the structure that shunts fetal blood from the pulmonary artery to the aorta . Those who do not die immediately(80%) can have an incomplete tear and a false aneurysm. In our patient there was an injury to the aorta and blood dissected both into the mediastinum causing the widened mediastinum on xray and into the pericardium. Probably because of her strokes, the patient did not report chest pain or back pain until later in her course.
Other injuries includedR rib fractures 3-7, a C2 tear drop fracture, and three punctate foci of diffusion restriction on MRI (one in either occipital lobes and one in the R hippocampus) compatible with embolic strokes.
Our patient had a TEVAR ( thoracic endovascular aortic repair) stent placed and a bypass of L carotid to the L subclavian. A nurse noted that the bp in the R arm was 155/52 and in the L was 70/52 post op. This was due to the vascular procedure and expected; so BP in a patient like this should be taken only in the R arm. She is currently intermittently alert.
Khoynezhad A, Donayre C, Bui H. et al. Risk ofneurodefecit after thorcic aortic endografting. Annals of Thoracic Surgery, 2007. Vol 83(2).
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Rao M, Panduranga P, Al-Mukhaini M et al. Ischmic stroke secondary to aortic dissection following rifle butt recoil chest injury. Oman Med J. 2011 26(8) 438-440.
This patient presents with Lichtenberg figures from a lightning strike. They are thought to be due to the rupture of capillaries under the skin caused by the currentor flash overs just above the skin causing bruising. They were first described by Georg Lichtenberg in 1777 when he noted that sulfur granules on the surface of insulating materials could form fractal like images if a current was applied. 20-30% of those struck by lightning have these figureswhich last 1-3 days.
Benjamin Franklin flew his kite on a stormy day in Pennsylvania in 1752 and learned that lightning is an electrical discharge creating a current that flows either within a cloud or between a cloud and the ground. Since the upper part of a thunderstorm cloud becomes positively charged while the middle becomes negatively charged a current can flow between the two areas.
There are several ways to be struck by lightning. In a direct strike the person becomes part of the main lightning discharge channel. A portion of the current moves along the skin surface and a portion moves through the body along the cardiovascular or nervous systems. Asystole is a common result, however the natural automaticity of the heart may cause a rhythm to resume. A side flash occurs when lightning strikes a taller object near the victim anda portion of the current jumps to the person. Less current is transmitted to the person and this is probably what happened to our patient since a tree next to his car was struck first and he did not have an exit wound .Ground current is the third way you can be effected by lightning. This is where the lightning hits the groundand travels along the ground. It enters the body at the closest point to the strike and exits at the point furthest away. This often kills farm animals. Conduction of the lightning strike can also kill people. In this case the current travels along a metal surface like plumbingor electrical cords and can cause an electric shock. The final way you can be injured by lightning is with a streamer. Streamers develop as the downward-moving leader approaches the ground. Only one streamer will rise up to contact the leader but all other streamers in the areacan discharge. This gives rise to numerous stories of being hit by a “bolt from the blue” since you can be at a distance from the main discharge. A famous case of a bicycle rally in Vail described a participant being hit by lightning under a cloudless sky.
Lightning causes 4,000 deaths per year worldwide and extensive property damage. Lake Maracaibo in Venezula is the number one spot for lightning in the world (252 strikes per kilometer per year) with the Democratic Republic of Congo also reporting frequent lightning strikes. Since ideal conditions for lightning include areas where warm moist air mixes with cold air above; these two areas would be ideal. More lightning occurs over land than over the ocean because sunshine heats land surfaces faster than water. In the US Florida has the highest number of lightning strikes
Our patient did well. He initially had fallen from his truck to the ground. His troponin peaked at 0.35, and CK at 401. He was discharged in two days with no treatment.
http://en.blitzortung.org/live_lightning_maps.php real time lightning map
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Domart Y, Garet E. Lichenberg figures due to a lightning strike. New Englan Journal of Medicine. 343:1536 2000. Images in Clinical Medicine.
Theodore Gray, TTheo Gray’s Mad Scienc Experiments You Can Do At Home-But Probably Shouldn’t Blanck Dog & Leventhal Publishers, 2009 ISBN 978-1579127916.
Why is she unresponsive?
Our patient had an atlanto-occipital dissociation with a basion fracture.
Tectorial membrane and alar ligaments provide the stability of the atlanto-occipital joint. When the basion-dens interval is > 10 mm suspect disruption of the joint. The injury is immediately fatal in 70% of cases with an additional 15% surviving to the ED. The injury is more common in children because of the large size of their heads relative to their bodies and the more horizontal occipital condyles in children. The injury represents 1% of all cervical spine injuries. Rare survivors usually have a neurological deficit with damage to cranial nerves VII to X.
The Wackenheim line can be drawn from the clivus and should intersect the dens posteriorly if ligaments are intact.
In our patient a CT angio showed there was no flow to the brain and care was withdrawn. She did not have an increased basion to dens distance and it is presumed that the fracture was reduced when a collar was applied. The treatment of atlanto-occipital dislocation is surgical and we happened to see a survivor of an atlanto-occipital dislocation in the same week. He had the base of the skull fused to the vertebral column. He had no lateral movement of his head but was neurologically intact.
Theodoere N, Aarabi B, Dhall SS, Gerb, DE, et al. The diagnosis and management of traumatic atlanto-occipital dislocation injuries. 2013 Neurosurgery 72 Supple 2: 114-26.
CooperZ, Gross JA, Lacey JM, Traven N, Mirza SK, Arbabi S. Identifying survivors with traumatic craniocervical dissociation: a retrospective study. 2010. Journal of surgical research 160: (1 ) 3-8.
You are unable to see the fundus and see what is pictured below on eye exam. What does the patient have?
Our patient had mutton fat precipitateson the inside of the cornea. It was impossible to see the fundus, not because of a vitreous hemorrhage but because the deposits did not allow light through. She had pronounced photophobia which is a key finding in uveitis.
Uveitis is inflammation of the pigmented layer that lies between the retina and the outer fibrous layer which is made up of thesclera and cornea. It includes the iris, ciliary body and choroid. Uveitis is classified anatomically by the part of the eye involved into anterior chamber which is similar to iritis (occurring frequently with a corneal abrasion), intermediate involving thevitreous, or posterior uveitis (chorioretinitis) involving the retina. 90% of uveitis is anterior.
Mutton fat precipitates are white blood cells deposited on the endothelium of the cornea which occur because of inflammation of the iris or ciliary body. They are “greasy” in appearance; hence, the name mutton fat. They can occur in uveitis caused by herpes, sarcoid, syphilis, tuberculosis HLA-B27, and autoimmune diseases.
T cells must normally be suppressed by dendritic cells in the eye which produce TGF beta . If T cells proliferatesystemically, they can migrate to the eye and cause release of cytokines and inflammation.
Globally, many infectious diseases also result in uveitis including Lyme disese, syphilis, parasitic disease and even Zika virus. Our patient was felt to have uveitis from a previous herpes infection.
Teaching point: Consider the causes of uveitis when evaluating the red eye.
Caspi, R A look at autoimmunity and inflammation in the eye. Journal of Clinical Investigation 2010. 120(9) 3073-83.
Chang JH, Wakefield D. Uveitis: a global perspective. Ocular immunology and inflammation 2002. 10(4) 263-79.
Ruggieri S, Frassanito MA, Dammacco R. Treg lymphocytes in autoimmune uveitis. 2012 Ocular immunology and inflammation 20(4): 255-61.
Our patient had been doing sit-ups on an incline and suffered a rectus sheath hematoma. Her initial Her hemoglobin was 11 which dropped to 8 when she arrived in our ED.
The rectus muscles attached to the ventral aspect of the 5,6,7 costal cartilages and extend to the superior pubic ramus. The arcuate line is located 5 cm below the umbilicus and separates the rectus muscles into upper and lower sections. The upper section has three or four transverse tendinous insertions attaching the muscle to the under lying fascia, creating the “six pack” seen in body builders.
During contractions of the rectus muscle, the length of the muscle changes and the superior and inferior epigastric arteries must glide with the muscle. The arteries themselves are loosely attached and move easily but their branches are more fixed and shear stress is created during contraction of the muscle. This is the area most likely to tear.
Rectus muscle hematomas may have a positive Carnett’s sign. This was first described in 1926 by John Carnett. When the muscles of the abdominal wall are tensed by asking the patient to lift the head and shoulders from the bed; pain is worsened with abdominal wall pathology. The test will be positive with hernias, nerve entrapment syndrome, and irritation of intercostal nerve roots.
The treatment of rectus hematomas is almost always conservative. Our patient was transfused and watched. She was seen several months later still complaining of abdominal pain although it had improved. This is the usual course of rectus sheath hematomas with resolution occurring over 2-3 months. Clinical pearl: consider the rectus sheath hematoma in patients with abdominal pain.
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Gray DW, Dixon JM. Seabrook G, Collin J. Is abd wall tenderness a useful sign in the diagnosis of non-specific abdominal pain? Ann R Coll Surg Engl. 1988. 70(4):233-4.
Fitzgerald JEF, fitzgerald LA, Anderson FE, Acheson AG The changing nature of rectus sheath haematoma: case series and literature review. International Journal of Surgery 2009. 7 (2) 150-54.