What do you notice on her CXR?
Our patient has a lapband. This device was used in the past for weight loss surgery but is no longer favored because of band migration and erosion. This is an important part of the history to obtain because of the complications associated with weight loss surgery.
A brief synopsis of the evolution of weight loss surgery follows. These surgeries are intended for those with a BMI of 30 or greater.
1. Roux-en-Y gastric bypass involves a combination of stomach reduction and connection of the small stomach to a portion of the intestine. Food bypasses the stomach and part of the small bowel. This is good for weight loss both from early satiety and dumping but if the pt presents with:
Vomiting-- be aware the anastomosis with the stomach can stenose causing the equivalent of an esophageal food impaction. Internal hernias, and edema of the anastomosis can result as well as anastomotic ulcers.
An acute abdomen—consider an anastomotic leak
RUQ pain—consider gallstones; 15% of Roux-en-Y patients get them
2. Lap band- is much less invasive but done less often now because of migration of the band and erosion of the esophagus. This occurs in about 2% of patients. These patients present with vomiting.
3. Gastric sleeve- removes 80% of the stomach. Consider a ruptured staple line if the pt presents with a GI bleed.
4. Duodenal switch- leaves the pyloris intact and is associated with fewer anastomotic ulcers. It is more effective at curing diabetes. These patients are more likely to develop malnutrition and thiamine/vitamin deficiencies.
5. Intragastric balloons- are having a resurgence but the Orbera Intragastric balloon and ReShape integrated dual balloon system have recently been implicated in 12 deaths including perforation of the stomach, perforation of the esophagus , pancreatitis and spontaneous hyperinflation of the balloon.
Our patient had esophagitis with thickening of the distal esophagus found on CT. The CT was done to ro rib fractures since she would be predisposed to malnutrition.. She was referred back to her bariatric surgeon. Remember, any patient with a gastric bypass can present with Wernicke’s.
DeMaria EJ, Pate V, Warthen M, Winegar DA Baseline data from American Society fo Metabolic and Bariatric surgery-designated Barietric Surgery Centers of Excellence using the Bariatric Outcomes Longitudinal Database Surg Obes Relat Dis. 2010;6:347.
Nelson DW, Blair KS, Martin MJ. Analysis of obesity-related outcomes and bariatric failure rates with the duodenal switch vs gastric bypass for morbid obesity. Arc Surg 2012;147:847.
Le Roux CW, Welbourn R, Weling M, et al. Gut hormones as mediators of appetite and weight loss after Roux-en-Y gastric bypass. Ann Surg 2007;246:780.
what do you see on her xray?
Our patient had a large paraesophageal hernia and no coronary artery disease on cath. Hiatal hernias are categorized as being either paraesophageal or sliding. In a paraesophageal hernia the GE junction is in place at the level of the diaphragm but part of the stomach pushes into the chest beside the esophagus. In a sliding hiatal hernia the GE junction protrudes into the chest. Only 5% of hiatal hernias are paraesophageal.
Patients with paraesophageal hernias often have chronic symptoms of early satiety because a meal distends the thoracic stomach and causes chest pain. The hernia may also cause gastric erosions and ulcer. Occasionally acute ischemia related to torsion can cause intense pain, perforation and death. Skinner and Belsey reported a series of 31 patients with paraesophageal hernias that were treated medically because of minimal symptoms and six patients died of complications including strangulation, perforation, exsanguination or acute dilation of the intrathoracic stomach. For this reason, generally, a surgical repair is warranted.
Sliding hernias where the GE junction slides into the chest with the stomach are more likely to cause esophagitis or stricture associated with gastroesophageal reflux.
Esophagoscopy confirmed that the hernia was paraesophageal with the GE junction in place. Erosions were seen in the thoracic stomach and the pt was treated with an NG to decrease distention and a proton pump inhibitor. Her symptoms improved and she was scheduled for surgery. Her trop peaked at 0.09 presumably from demand ischemia since her cath was normal.
Shafii A, Agle S, Zervos E. Perforated gastric corpus in a strangulated paraesophageal hernia: A case report.2009. Journal of Medical Case Reports, 3(6507). DOI:10.1186/1752-1947-3-6507.
Dunn D, Quick G. Incarcerated paraexophageal hernia. American Journal of Emergency Medicine . 1990. Vol 8(1). 36-39.
Pearson F, Cooper JD, Ilves R et al Massive hiatal hernia with incarceration: A report of 53 cases. Ann Thorac Surg 1983;35:45-51.
Skinner DB, Belsey R. Surgical management of esophageal reflux with hiatus hernia: Long-term results with 1,030 patients. J Thorac Cardiovasc Surg 1967;53:33-54.
Our patient had Proteus syndrome. It is a rare somatic mutation that results in asymmetric overgrowth of bone and soft tissue.It was first described in 1979 and four years later was given the name "Proteus syndrome" after the Greek god Proteus who was able to assume multiple forms. It is characterized by macroglossia, hemifacial overgrowth and hyperpigmentation.
Genetic sequencing has localized the gene responsible to AKT1. This is not in a germ cell and so can occur later in life. If it develops later in life the phenotype will be less severe.
Joseph Merrich, the man studied in the 19th century by Treves who was thought to have neurofibromatosis is now thought to have had Proteus syndrome. Our patient had such severe bony overgrowth of the jaw she could barely open her mouth. She was scheduled for reconstructive surgery.
Lindhurst MJ, Sapp JC, Teer JK, et al. Mosaic activating mutation in AKT1 associated with the Proteus syndrome. 2011 NEJM Aug 18, 365(7).
Cohen MM Jr, Proteus syndrome; an update. 2005 Am J Med Gen Seminars in Med. Aug 115 137C(1) 38-52.
Lacerda LS, Alves UD, Zanier et al. . 2014 Differential diagnosis of overgrowth syndromes; the most important clinical and radiologic manifestations. Radiol Reg Prac :947451
What do you notice on the CT of the abdomen?
Our patient has pneumatosis cystoides intestinalis or gas filled cysts in the bowel wall. This was first described in 1730 by DuVernoy during a cadaver dissection. Although the first thing we are taught to rule out is ischemic bowel; the condition is often benign.
It is estimated that 15% of pneumatosis is primary; in 85% of cases there appear to be secondary causes. The causes of pneumatosis include:
traumatic and mechanical- this includes pyloric stenosis where the bowel contracts against an obstruction or bowel surgery which can disrupt the bowel wall layers.
Inflammatory and autoimmue- this includes crohn's disease, NEC, and conditions where steroids are used for treatment. Steroids are thought to cause atrophy of the mucosa and lead to spaces which can fill with gas
Infectious- c diff, HIV and CMV have all been shown to cause pneumatosis
Transplantation probably because of immune suppression, and neoplasm are also associated with pneumatosis.
Often the patient is treated with flagyl but oxygen therapy can be used. it is thought that 350 mm of oxygen increased the oxygen in the cyst to blood diffusion gradient and this will lead to absorption of the cysts. The cysts themselves contain nitrogen and carbon monoxide.
Pneumatosis is called the surgeons dilemma because no one wants to perform unnecessary surgery, yet missing ischemic bowel can be devastating. The two things to look for are lactic acidosis and severe abd pain. Our patient had neither and he was managed conservatively with antibiotics. The pneumatosis resolved.
- Brauman C, Menenahosc C, Jacobi C . Pneumatosis intestinalis- a pitfall for surgeons. 2005 Scand Journal of Surg 94(10 47-50.
- Zulke C, Ulbrich S, Graeb C, Hahn J. Pneumatosis cystoides intestinalis following allogenic transplantation. 2002;29(9) 795-798.
What do see on the CT?
Our pt had an intussusception of the small bowel into the colon and the right colon intussuscepted into itself. At surgery , it was not able to be reduced and a right hemicolectomy was performed. A 3 cm inflammatory polyp was found to be the lead point of the intussusception.
The cause of intussusception is unknown in children.Iit can present with currant jelly stools and can often be reduced with an enema. Risk factors in children include cystic fibrosis and intestinal polyps. The usual age of intussusception in children is 6-18 months. In adults, there is often a lead point is present and the most common causes are endometriosis, bowel adhesions and tumors. Meckel’s diverticulum, duplication cysts and hyperplasia of the Peyer’s patches can also cause intussusception.
In the most frequent type of intussusception, the ileum enters the cecum.The part that is contained within bowel is the proximal part of the bowel since peristalsis carried it forward. The trapped bowel may become ischemia necessitating surgical intervention.
Our patient had a second bowel obstruction after surgery which was managed conservatively and thought to be secondary to an adhesion. He was discharged after resolution of his symptoms and is doing well. The cause of his polyp was felt to be heavy NSAID use.
Marsicovetere T, Ivatury, et al. Intestinal intussusception: etiology, diagnosis and treatment. 2017 Clinics in colon and rectal surgery 30(1):30-39
Gluckman S, Karpelowsky J, et al. Management for intussusception in children. The Cochrone Database of Systematic Reviews. 6:CD006476.
Gayer G, Zissin R, Apter S, PapaM, Hertz M. Pictorial review: adult intussusception—a CT diagnosis. 2002 Br J Radiol. 75(890): 185-90
What is the differential for new onset ascites with peritoneal studding?
Our patient had peritoneal tuberculosis. He was from India with no previous history of Tbc. Tuberculous peritonitis is increasing in prevalence. It is common in patients with immunocompromised states, chronic kidney disease, or cirrhosis of the liver It is most often caused by spread from pulmonary foci but can be caused by direct invasion of the bacillus through the bowel wall.
The differential for ascites with peritoneal studding includes:
-Carcinomas of the GI tract and ovary( stomach,colon, appendix, gallbladder and pancreas)
-pseudomyxoma peritonei-is a more benign condition where thick gelantinous materil covers the surface of the peritoneal cavity. It is thought to be a low grade appendiceal tumor which can be debulked since the tumor does not invade abdominal organs.
- Lymphoma generally associated with herpes virus: human herpes virus 8 (also associated with Kaposi’s) and Epstein Barr virus
INFECTIOUS AND INFLAMMATORY LESIONS
-granulomatous peritonitis includes tuberculosis,Histoplasmosis, or pneumocystis. It also includes sarcoid, and foreign material such as talc or barium.
-Sclerosing encapsulating peritonitis may occur in a patient on peritoneal dialysis; the cause is not known.
MISCELLANEOUS TUMORS AND TUMORLIKE LESIONS
-Endometriosis occurs in 10% of women of childbearing age
-Melanosis can be associated with cystic teratomas
- splenosis is heterotopic splenic tissue often occurring after trauma to the spleen
35 cases of bovine tuberculosis were reported in New York City from 2001-4 and linked to fresh cheese (queso fresco) brought to NYC from Mexico where 17% of cattle being slaughtered are positive for M. bovis. Pasteurized milk is free of the disease. Our patient had a positive omental biopsy showing tuberculosis. His ascitic fluid and pleural fluid cultures were negative. He was treated with rifampin, INH, pyrazinamide and ethambutol.
Levy A, Shaw J, Sobin L. Secondary tumors and tumorlike lesions of the peritoneal cavity: imaging features with pathologic correlation. Radiographics. 2009. 29:347-373.
Srivastava U, Almusa O, Tung K, Heller M. Tuberculous peritonitis. Radiol Case Rep 2014;9(3):971.
MMWR Human Tuberculosis Casued by Mycobacterium bovis, New York City, 2001-2004 June 2005 54(24):605-608.
Our patient had a large mass in the nasal cavity. She had a hx of squamous cancer ten years pta centered over the R forehead and involving the frontal sinus which had been resected. The mass extended into the anterior cranial fossa.
Nasal masses were first described by Hippocrates in 460 BC. He is considered the "Father of Rhinology" because of his description of nasal polyps.
CAUSES OF NASAL MASSES
The most common benign nasal masses are polyps ( often related to asa allergy) and hemangiomas
CONGENITAL Congenital lesions occur in the first 12 weeks of development when neural crest cells are migrating. Lesions in children include dermoids, hemangiomas, gliomas , encephaloceles, and rhabdomyosarcomas.
Wegener’s is a granuomatosis inflammation with necrosis occurring in the respiratory tract, lung and kidney. Sinusitis is the presenting finding in 1/2 to 2/3 of patients.
Rhinoscleroma is a chronic bacterial infection caused by Klebsiella rhinocleromatis.
Rhinosporidiosis is a chronic granulomatous disease endemic in India, Sri Lanka and parts of Africa. The responsible agent is an a protozoan belonging to a group of fish parasites and found in water.It stains with fungal stains and has endospores so for many years it was thought to be a fungus. It causes bony erosion.
Leprosy- Nasal involvement is universal and occurs early in the disease. The disease is caused by infection with Mycobacterium Leprae.
Tuberculosis, leishmaniasis, blastomycosis, and syphilis have all been reported to cause destructive lesions of the central face.
Squamous cell cancer is the most common malignancy of the nose accounting for over 90% of tumors.
Lethal midline granuloma ( now known to be an aggressive lymphoma) is less common.
Giant cell tumors of the nasal cavity are rare and tend to recur locally. These tumosr have osteoclast-like giant cells and may arise from the nasal septum.
Our patient had a squamous cell carcinoma of the nose. She underwent surgery. The mass was invading through the cribriform plate into the anterior cranial fossa and a debulking procedure was done endoscopically.
Lathi A, Syed M, Kalakoti P, Kishve S. Clinico-pathological profile of sinonasal masses: a study from a tertiary care hospital of India. ACTA Otorhinolaryngologica Italica. 2011 Dec;31(6):372-377.
Humayun A, Zahurul H, Ahmed S, et al. Clinicopathological study of sinonasal masses. Bangladesh J Otohinolaryngol. 2010;16:15-22.
Gallo ES, Pehousheck JF, Crowson AN. An exophytic nasal nodule. Arch Dermatol 2010 Jul 146(7) 789-94
Swain S, Ray Ritam. Wegener’s Ganulomatosis of Nose: A case report. 2011 Indian J Otolaryngol Head Neck Surg. Oct 63(4):402-404.
Our patient had a spontaneous dissection of the L main, mid LAD and diagonal arteries without atherosclerotic disease. The flap intermittently closed. The first case of coronary dissection without atherosclerotic disease was reported in 1931 involving a 42 y.o. woman who presented with sudden cardiac death and a dissection was found on autopsy.. There is an association with fibromuscular dysplasia. Spontaneous coronary dissection accounts for 0.1-4% of all ACS cases. Among younger women <50 it accounts for 10.8% of patients with ST elevation MI. In a case series 12% of individuals had simultaneous involvement of multiple coronary arteries.
While non-atherosclerotic coronary dissection was previously thought to be related to pregnancy and the peripartum period, more recently other causes have been reported. Fibromuscular dysplasia, connective tissue disease , systemic inflammation and coronary artery spasm have all been implicated. Isometric exercise increases cardiocirculatory stresses and shear forces against the coronary artery wall and may also be implicated. Cocaine has been associated with coronary dissection as well.
Coronary artery dissection can be difficult to diagnose on cath where the image is 2-D. For patients with an intimal tear, multiple radiolucent lines separating the true and false lumens may appear with slow contrast clearing. Dissection may also appear as just compression of the lumen and is best seen on optical coherence tomography.
The treatment includes antiplatelet therapy(asa and clopidogrel) and beta blockade. Revascularization can be challenging since PCI would often include long segments at risk for restenosis and the danger of extending the dissection. They are generally treated without stents as was our patient unless they have persistent pain. Thrombolytic therapy should be avoided in cases of dissection because there are reports of extension of the dissection;cath is preferred Overall the frequency of thrombotic occlusion is higher that the risk of spontaneous dissection so in rural centers thrombolysis should not be withheld.
The natural history of dissected segments is that they heal spontaneously if patients survive the initial event. our patient was initially was placed on a balloon pump and treated with balloon angioplasty of the LAD and diagonal. Her troponin peaked at 175. Renal dopplers did not show fibromuscular dysplasia. She was sent home with dual antiplatelet therapy and a betablocker. She returned one day after discharge with chest pain which was thought to be due to anxiety. At that time her trop continued to trend down and she was discharged home.
Hill SF, Sheppard MN. Non-atheroclerotic coronary artery disease associated with sudden cardiac death. Heart 2010;96:119-1125.
Vanzett o G, Berger-Coz E, Barone-Rochette, G et al. Prevalence, therapeutic management and mediu-term prognosis of spontaneous coronary artery dissection: results from a database of 11,605 patients. Eur J Cardiothorac Surg. 2009;35:250-254.
Saw J, Starovoytov A, ManciniJ, Buller CE. Non-atherosclerotic coronary artery disease in young women. J Am Coll Cardiol. 2011;58:B113.
What does he have?
Our patient had a mucocele which is an accumulation of mucoid secretions and desquamated epithelium within a sinus. In this case it was cause by retained sinus lining after his frontal sinus fracture. He was sp cranialization of the R frontal sinus after his injury. Over the course of many years he developed a large mucocele intracranially but extradurally that displaced the globe and caused proptosis. These may develop very slowly and can be reported 10 to 15 years after the fracture. They can also occur without trauma in an obstructed sinus.
The frontal sinus is most commonly involved in mucocele formation with only rare mucoceles in the sphenoid, ethmoid and maxillary sinuses. The frontal sinus is shared with the superior orbital wall which explains the proptosis as the mucocele enlarges.
Mucoceles were first described in 1820 by Langenbeck and called hydatides. The repair of mucoceles is complicated by the fact that they will recur if even a small amount of mucous producing tissue is left.
The repair can be open or endoscopic with neurosurgeons generally preferring the open route to remove the entire cyst lining. If the posterior wall of the frontal sinus is eroded a biopore sheet can be inserted to reconstruct the posterior frontal sinus wall. It is placed between the orbit and the dura. Other mucoceles are treated endoscopically with or without stents.
Our patient’s course was complicated by the fact that he was psychotic and homeless. He lacked capacity to consent for himself and two physicians were required to agree on the necessity of surgery. He underwent endoscopic endonasal drainage of the intracranial mucocele with prompt reduction in his proptosis. His recovery was uneventful.
Alberti PW, Marshall HF, Munro B. Fronto-ethmoidal mucocele as a cause of unilateral proptosis. Br J Ophthalmol. 1968;52:833.
Suri A, Mahapatra AK, et al. Giant mucoceles of the frontal sinus: a series and review. J Clin Neurosci. 2004;11:214-8.
Tan CS, Yong VK, Yip LW, AmritjS. An unusual presentation of a giant frontal sinus mucocele manifesting with a subcutaneous forehead mass. Ann Acad Med Singapore. 2005;34:397-8.
He has a hyphema but also the fundus appears below. What is the white patch?
Our patient had Berlin’s edema of the eye. This whitish patch is caused by shock waves traversing the eye from the site of impact after blunt trauma. It was first described by Berlin in 1873. It occurs hours after injury and it thought to be caused by extracellular edema . A cherry-red spot may also appear on the fovea because cells involved with the whitening are not present in the fovea. Visual acuity may decrease to 20/200 but usually resolves in 3-4 weeks.
traumatic lens dislocation
An estimated 30% of eye injuries presenting to the ED will have Berlin’s edema. Blunt trauma to the eye also may result in hyphema, lens dislocation, vitreous hemorrhage, retinal breaks and detachment, and early and late glaucoma. Macrophages filled with hemoglobin or degenerated erythrocytes raise the intraocular pressure by obstructing the trabecular meshwork after a vitreous hemorrhage. The increase in ocular pressure can occur immediately after an eye injury or years later. Two peaks of glaucoma have been reported , less than one year and greater than 10 years after trauma. 3.4% of patients with eye injuries develop glaucoma.
Our patient had both Berlin’s edema and a visible traumatic hyphema. He had normal eye pressure. He was treated with cyclopentolate 1% and prednisolone 1%. His vision gradually improved.
Hart JC, Blight R. Commotio retinae. Arch Ophthalmol. 1979. 97(9): 1783.
Mendes S. Campos A, Beselga D, et al. Traumatic maculopathy 6 months after injury: a clinical case report. Case Reports in Ophthalmology. 2014;5(1): 78-82.
Fenton RH. Zimmerman LE. Hemolytic glaucoma, an unusual cause of open angle secondary glaucoma. Arch Ophthalmol. 1963; 70:236-267
Campbell DG. Simmons RJ. Grant WM. Ghost cell as a cause of glaucoma. Am J Ophthalmol. 1979;97:2141-46.
Sihota R, Kumar S et al Early predictors of traumatic glaucoma after closed globe injury. 2008. JAMAVol 126(7)921-926
what do you notice on her CT?
Our patient had a splenic infarct. Splenic infarct occurs when one of the branches of the splenic artery is occluded or there is venous congestion with ischemia. The complications include: a ruptured spleen , bleeding, pseudocyst or abscess.
CAUSES OF SPLENIC INFARCTION
Splenomegaly- Splenic infarct is more common in hematological disorders associated with splenomegaly like myeloproliferative disorders. Splenomegaly caused by storage diseases like Gaucher’s can also result in infarct. Probably the most common cause of splenic infarct is sickle cell disease where autosplenectomy occurs over time.
Splenic infections such as mono, cmv, malaria and babesiosis are associated with splenic infarcts. Hypercoagulable states such as malignancy , antiphospholipid syndrome or factor V Leiden may also result in splenic infarcts. The infarcts can also be embolic associated with endocarditis or a fib.
Any compromise of the splenic artery can result in infarction including aortic dissection, external compression by a tumor or torsion of the splenic artery
Vasculitis and DIC are also associated with infarcts. In patients with cancer a “vascular syndrome” has been described in patients receiving angiogenesis inhibitors like bevacizumab. Immediately following initiation of treatment; strokes, MIs , PEs and splenic infarcts have been reported.
Our patient had cancer which is known to cause a hypercoagulable state. Decreased protein C, protein S, and antithrombin, activation of factor X, and increased platelet catabolism all have been implicated in thrombogenesis in cancer patients.
In our patient, coagulation studies were normal, embolic disease was ruled out with a normal cardiac echo. Blood cultures showed no growth. It was assumed that her infarct was due to splenomegaly and her malignancies causing a hypercoagulable state.
Malka D, Van den Eynde M, Boige V et al. Splenic infarction and bevacizumab. 2006. Lancet Oncol 7(12)1038.
Rawla P, Vellipuram AR, Bandaru SS, Raj JP Splenic infarct and pulmonary embolism as a rare manifestation of CMV infection. 2017 Case Reports in Hematology 1850821.
Breuer C, Janssen G, et al. Splenic infarction in a patient with hereditary spherocytosis, protein C deficiency and acute infectious mono. 2008 Eur J Pediatr 167(12) 1449-52.
Frippiate F, Donckier J, Vandenbossche P , et al. Splenic infarctin report of three cases of atherosclerotic embolization originating in the aorta and retrospective study of 64 caes. 1996. Acta Clin Belg. 51(6) 395-402.
Our patient had Sezary syndrome. This is a type of cutaneous lymphoma occurring in 3% of skin lymphomas. It was first described by Albert Sezary in 1938. It is an accumulation of T cells and therefore a T cell lymphoma where the T cells invade the skin causing intense pruritus. The cells can also appear in the blood where they appear to be “cerebriform” lymphocytes. The disease can be associated with mycosis fungoides and is associated with lymphadenopathy in the later stages. Clinically, it is associated with redness of the skin, hyperkeratosis of the palms and and occasionally lagophthalmos. ( inability to close the eyelids;referring to the myth that rabbits sleep with their eyes open)
Mycosis fungoides is the most common form of cutaneous T-cell lymphoma. It is an unusual expression of CD4-T cells. These lymphocytes form dense plaques in the skin with lymphoid cells lining up along the epidermal basal layer. Mycosis fungoides is considered a less virulent lymphoma than Sezary syndrome and often patches in the skin can be dormant for years. They may begin as simply hypopigmented dermal thickening. In the final stages tumors may develop in the patches.
Treatment consists of radiation of the skin with electron beam or UVB light and psoralen with UVA therapy. Recently imiquimod has been used in treatment of skin lesions. Imiquimod increases cytokine release and inflammatory reaction.
Our patient received a retinoic acid compound and light treatments. Because of the overall poor prognosis of Sezary syndrome, he was made DNR/DNI.
Sezary A, Bouvrain Y. Erhthrodermie avec presence de cellules monstrueuses dans le derme et le sang circulant. Bulletin dela Societe francaise de dermatologie et de syphiligraphie, Paris, 1938;45:254-260.
Thangavelu M, Finn WG, Yelavarthi KK, et al. Recurring structureal chromosome abnormalities in peripheral blood lymphocytes of patients with mycosis fungoides/Sezary syndrome Blood 89(9)3371-7.
Jawed S. Hyskowski P, et al. Primnary cutaneous T-cell lymphoma ( mycosis fungoides and Sezary syndrome. 2014. Journal of the American Academy of Dermatology 70(2) 223. E1-223e17.
Yamashit T, Abbade L, Marques M, Marques S. Mycosis fungoides and Sezary syndrome: clinical histopathological and immunohistochemical review and update. An Bras Dermatol 2012Nov-Dec 87(6 ) 817-830.
Hint; he has hilar adenopathy shown below
Our patient had neurosarcoidosis. The lesions in the liver and lymph nodes were granulomas. He had presented initially with progressive leg weakness over 3 months and urinary retention. The pt had cauda equina syndrome with involvement of the sacral nerve roots on MRI as well as diffuse leptomeningeal enhancement of the entire spine. 5-10% of patients with sarcoid develop neurosarcoidosis.
Sarcoidosis is a poorly understood disease thought to be an immune response to something; possibly environmental, possibly infectious, possibly genetic, and possibly related to other immune diseases. It is more common in celiac disease and common variable immune deficiency. The disease has a prevalence of 40/100,000 in the general population but seems to be dependent on race. It is more common in Sweden and Iceland where the prevalence is 60 per 100,000. The disease is also more common among those of African American descent. In Japanese patients ophthalmologic and cardiac involvement are more likely.
The presentation is widely variable. It can present as cranial nerve palsies with vestibulocochlear nerve involvement causing deafness or vertigo, optic nerve involvement causing loss of vision, glossopharyngeal nerve involvement causing difficulty swallowing or facial nerve involvement. The granulomas can form in the pituitary and cortex of the brain. 10% of patients presenting with sarcoid present with seizures due to brain involvement.
It can present as mediastinal adenopathy with no other involvement. It can also present as e nodosum which is an inflammation of fat cells causing raised nodules on the shins.
Our patient had a biopsy of a lymph node confirming sarcoid and was treated with high dose steroids. His symptoms greatly improved and he was discharged. Long term treatment is anticipated.
Joseph FG, Scolding NJ. Sarcoidosis of the nervous system. 2007 Practical Neurology 7(4) 234-44.
Li Y, Pabst S, Kubisch C, Grohe, Wollnik B. First independent replications study confirms the strong genetic association of ANXA11 with sarcoidosis. Thorx 2010. 65(10) 939-40.
Syed J, Myers R. sarcoid heart disease. Can J Cardiol 2004. 20 (1) 89-93.
What does he have?
Our patient had an infected branchial cleft cyst involving the L lobe of the thyroid; so probably the 4th branchial cleft. Although branchial cleft abnormalities are congenital abnormalities, they present in early adulthood with fistulas and cysts. Phylogenetically, the branchial apparatus is related to gill slits. In fish and amphibians these slits do not fuse and become gills. The name branchial comes from branchia which is Greek for gills.
The second branchial cleft accounts for 95% of branchial cleft abnormalities. They are most frequently found on the anterior border of the upper third of the sternocleidomastoid. The cysts can become infected after a viral infection because they contain lymphoid tissue beneath their epithelium. Any patient who presents with an abscess of the thyroid probably has an underlying branchial cleft fistula communicating with the pyriform sinus.
Our patient underwent drainage of his abscess which grew strep constellatus. Since 20% recur if infection is present he is being followed by ENT.
Doi O, Hutson JM, Myers NA, McKelvie PA. Branchial remnants: a review of 58 cases. J Pediatric Surg. 1988 Sep23(9):789-92.
Goff CJ, Allred C, Glade RS. Current mansgement of congenital branchial cleft cysts, sinuses and fistulae. Curr Opin Otolaryngol Head and Neck Surg 2012. Dec 20(6) 533-9.
Valentino M, Quiligotti C, Carone L,Branchial cleft cysts. J Ultrasound 2013 16(1) 17-20.
Benson MR, Dalen K, Mancuso A et al. congenital anomalies of the branchial apparatus; embryology and pathologic anatomy. Radiographics 1992 Sept 12(5) 943-60.
What condition does he have?
Our patient had neurocutaneous melanosis. This is a rare disease characterized by pigmented nevi that affect not only the skin but the leptomeninges. It was first described in 1861 by Rokitanski. About 1/3 of the patients diagnosed are symptomatic often presenting with seizures, cranial nerve palsies, hydrocephalus or spinal cord involvement. It is associated with Dandy-Walker malformation in 10% of the cases. Our patient had presented with seizures as a child and on imaging was found to have melanosis in the R temporal lobe. Because of intractable seizures he underwent a R temporal lobectomy in 2015.
The diagnosis is made on MRI with the melanocytes being hyperintense on T1 images. The deposits of melanocytes are most often seen in the amygdala, cerebellum and upper cervical cord. The pathogenesis is believed to be dysplasia of the neuroectodermal melanocyte precursor cells leading to proliferation of melanin in the skin and leptomeninges. Patients with neurocutaneous melanosis are at risk for malignant transformation to melanoma. Malignant transformation occurs in 40-60% of symptomatic cases.
Carpopedal spasm occurs when acute hypocarbia causes reduced ionized calcium and phosphate levels resulting in involuntary contraction of the feet and hands. This can occur with dehydration, hyperventilation (from any cause including MI, infection or bleeding), hypothyroidism, tetanus, and brain disorders (Parkinsons, MS, dystonia and huntingtons).
Our patient had normal Mg, Ca and phosphorus. His CO2 was 20. The cause for his carpopedal spasm was thought to be dehydration from a night of drinking preceding his presentation. He had an elevated ddimer and underwent a PE protocol CT which showed no PE but a small R to L shunt. His spasms resolved with hydration.
Gocmen R, Guler E, Arslan E. A case of neurocutaneous melanosisand neuroimaging findings. 2015 Journal of Radiology Case Reports. 9(3) 1-6.
Rokitanski J, Ein ausgezeichneter Fall von Pigment-Mal mit ausgebreiteter Pigmentierung der inneren Hirn-und Ru chenmarkhaute. Ally Wien Med Z 1861(6):113-16.
Ginat DT, Meyers SP. Intracranial lesions with high signal intensity of T1-weighted MR images: differential diagnosis. Radiographics 2012 32(2) :499-516.
Our patient had atypical hemolytic uremic syndrome. This was called atypical because in most cases the syndrome is preceded by an episode of diarrhea which is caused by E Col, O157:H7, other non -O157 E. coli, shigella and campylobacter. It can also be preceded by a virus. Another atypical feature of this case was that HUS most commonly occurs in children where it remains the most common cause of acquired renal failure. 5% of the cases result after infection by Strep pneumo. In atypical HUS, genetic defects cause uncontrolled complement activation.
HUS was first described in 1955. The toxin binds to GB3 receptors which are more common in children and in adults are concentrated in the kidneys. The virus or bacteria cause endothelial damage, platelet activation , and widespread inflammation leading to thromboses in small blood vessels. Stroke, MI , renal failure in 55-70%, liver necrosis, pancreatitis, and seizures may result .
The mechanism of action includes binding of the toxin to BG3 receptor on the surface of glomerular endothelium, and binding of leukocytes to endothelial cells. The binding of toxin inactivates a metalloproteinase call ADAMTS13 and multimers of von Willebrand Factore form and initiate platelet activation, causing microthrombi. These thrombi lodge in small vessels and break red blood cells as that try to squeeze through. Lastly, the toxin activates the alternative complement pathway and interferes with complement factor 5, an inhibitor of complement activation. In contrast to DIC where coagulation factors are consumed, in HUS fibrinogen and DDimers are normal.
The country with the highest incidence of HUS is Argentina possibly because of the association between E coli and contaminated meat. In the 1990’s Jack in the Box restaurants served contaminated meat causing an outbreak of HUS. Outbreaks have also been linked to cookie dough and spinach.
If you see schistocytes you may have a thrombotic microangiopathy.
HUS- positive shiga-toxin confirms the diagnosis, plasmapheresis is contraindicated, use eculizumab
TTP ADAMTS13 deficiency <5% of normal; plasmapheresis is indicated.
Our patient was treated with Eculizumab , a monoclonal Ab against CD5( blocks complement) In one week, his platelet count increased from 56,ooo to 122,000, his hgb increased from 7.3 to 8.7 and he began making urine. One year of treatment costs $500,000.
Benz K, AmannK. Thrombotic microangiopathy:new insights. Current Opinion in Nephrology and Hypertension. 2010 19(3) 242-247.
Shimizu M, Yokoyama T, et al. Thomsen-Friedereich antigen exposure aas a cause of Strep pyogenes-associated hemolytic-uremic syndrome. Clinical Nephrology 78(4):328-31.
Noris M, Remuzzi G. Atypical hemolytic-uremic syndrome. 2009. NEJM 361(17):1676-1687.
Our patient had inflammation of Kager’s fat pad. Kager’s fat pad is a lipomatous structure located in the posterior ankle joint anterior to the Achilles tendon. On lateral radiographs of the ankle the fat pad is radiolucent and triangular with boundaries formed by the flexor hallucis longus muscle and tendon anteriorly, the superior cortex of the calcaneus inferiorly and the Achilles tendon posteriorly.
What sorts of conditions cause inflammation of the fat pad? Fractures, joint effusions, Achilles tendon injury, arthritis and autoimmune diseases all can cause the fat pad to be opaque on xray. . The most common autoimmune diseases causing this enthesitis ( inflammation where the tendon inserts on the bone) are ankylosing spondylitis and Reiters syndrome. . Reiter’s syndrome( now called 'reactive arthritis" because Reiter experimented in Nazi concentration camps) consists of conjunctivitis, non-gonococcal urethritis and arthritis. It affects the heel in 50% of patients and is often caused by chlamydia. For this reason it has been known as “lover’s heel.” It usually occurs 1-3 weeks after infection and is most commonly associated with Chlamydia.however it can also occur after diarrheal illness with Salmonella, Shigella, or Camphylobacter..
Another cause of inflammation is a retrocalcaneal exostosis called a “pump bump”. This is more common in women and thought to be due to wearing high heeled shoes. This is also called Haglund’s deformity. The cure for this inflammation which leads to the exostosis is to change the height of the heels being worn.
Our patient had conjunctivitis and bilateral heel pain. The formal ultrasound did not show Achilles tendon injury. He was treated for Reiter’s with NSAIDS and antibiotics for Chlamydia.
Ly J, Bui-Mansfield L. Anatomy of and abnormalities associated with Kager’s fat pad. AJR 2004, 182(1).
Pavlov H, Heneghan MA, Hersh A, Goldman AB, Vigorita V. Haglund’s syndrome: intial and differential diagnosis of posterior heel pain. Radiology 1982;144:83-87
Frey C, Rosenberg Z, Shereff MJ, Kim H. The retrocalcaneal bursa: anatomy and burography. Foot Ankle 1992;13:203-207.
McGahan JP, Graves DS, Palmer PES. Coccidioidal spondylitis : usual and unusual radiographic manifestations. AJR 1980;136:5-9.
Our patient had a rupture of the gallbladder with stones spilling out into a cavity under the liver. The reason the stones were not free in the abdomen was because of adhesions found at surgery.
About 4% of patients with acute cholecystitis have gallbladder perforation. This is somewhat dependent on time between onset of symptoms and surgery.It is not surprising that there is a delay in diagnosis since the symptoms of a perforation may be very similar to uncomplicated cholecystitis. There are several types of gallbladder perforation according to Niemeier’s classification in 1934. In type I there is free gallbladder perforation and bile peritonitis, type II is localized peritonitis with an abscess and type III is chronic gallbladder perforation which results in a cholecystoenteric fistula.
A perforation can occur as early as two days after the onset of acute cholecystitis or as long a several weeks after. The usual mechanism of perforation is blockage of the cystic duct with a gallstone causing a rise in intraluminal pressure which impedes venous and lymphatic darainge leading to necrosis. Gallbladder perforation can also occur with acalculous cholecystitis where there is increased bile viscosity due to fever and dehydration and prolonged absence of oral feeding resulting in a decrease in cholecystokinin-induced gall bladder contraction. Edema of the gallbladder wall can also occur with chf.
The treatment of a gangrenous gallbladder is cholecystectomy after the infection is relieved by US guided percutaneous drainage. Our patient underwent surgery.
Derici H, Kara C, Bozdag A, et al. Diagnosis and treatment of gallbladder perforation, 2006 World J Gastroenterol. 12(48): 7832-7836.
Niemeier OW. Acute free perforation of the gall-bladder. Ann Surg 1934;99:922-924.
thanks to Dr Baumgartner
an apparently normal 7 wk gestation
Our patient had a twin pregnancy where one twin was a molar pregnancy. The term hydatidiform mole comes from the Greek hydatisia(a drop of water) and mola(from the Latin meaning millstone/false conception). Molar pregnancies occur in 1 in 1000 pregnancies. They are more frequent in Mexico , SE Asia and the Phillipines. They are more frequent in white women than black women. How a mole develops is a subject of debate although it is thought to occur when an egg without DNA is fertilized by a sperm which then creates a fetus with only male DNA patterned methylation and this stimulates syncytiotrophoblast growth. If the egg DNA is present this rapid growth is normally curtailed.
More than 80% of moles are benign and in those cases women are counseled to avoid pregnancy for 6 to 12 months after a D+C. In 10-15% of cases hydatidiform moles may develop into invasive moles. This is called persistent trophoblastic disease and can result in invasion of the uterine wall with hemorrhage. In 2-3% of cases, moles develop into choreocarcinoma which is an aggressive malignancy resulting in widespread metastatic disease and death.
There are numerous reports of twin pregnancies where one “fetus” is a molar pregnancy. It is estimated that 20% of these pregnancies will result in a viable term infant. On the other hand, the mole can be aggressive and cases have been presented where the HCG (which normally peaks at 100,000 in the 10th week of pregnancy) can be over 1,000,000 and widespread metastases occur. HELLP syndrome can develop as well as hyperthyroidism and severe bleeding.
Our patient elected to undergo a D+C and had no complications.
Renard N, BijvankS, deGroot J, Verheijen R, et al. Aggressive complete hydatidiform mole coexistent with a normal fetus during pregnancy: is there a correlation between outcome and serum HCG levels? A report on 2 cases and review of the literature. Obstetrics and Gynaecology cases=reviews 2016. 3(5) 089 ISSN : 2377-9004
Jones WB. Lauersen NH Hydatidform mole with coexistent fetus. Am J Obstet Gynecol 1975. 122:267-272.
Woo J, Hsu C, Fung L, Ma H. Partial hydatidiform mole: ultrasonograqphic features. 1983. Aust N Z J Obstet Gynaecol. 23 (2 ):103-7.