Pathology Exam 3 Case Studies

A 63-year-old man presents to your office after noticing that his left eyelid is droopy. Upon further questioning, he admits to some shortness of breath over the past 2 months, but he attributes that to his 40-year-long heavy smoking habit. Physical examination reveals ptosis and miosis of the left eye and extremely dry skin of the left face. A CXR demonstrates an irregular mass in the apex of his left lung. You admit the patient to the hospital for a biopsy of the mass, but you fear that the prognosis is not good

Bronchogenic carcinoma

A 71-year-old man presents to your office because of water retention. He states that he keeps himself well-hydrated, but he does not feel that his intake matches his output. Pertinent past medical history includes shortness of breath and weight loss of 15 lb over the past 3 months. He has smoked two and a half packs of cigarettes per day for 50 years. Besides looking into possible causes of urinary obstruction and other diagnoses, you decide to send the man for a CXR, which reveals a central coin lesion. Based on the patient's history, you expect to see small, round cells with scant cytoplasm on a biopsy of the mass.

BRONCHOGENIC CARCINOMA/Horner syndrome/Lambert-Eaton syndrome/Pancoast tumor/superior vena cava syndrome

A 22-year-old man presents to the emergency department complaining of severe chest pain and shortness of breath. Physical examination reveals a tall, thin man with decreased breath sounds, decreased tactile fremitus, and hyperresonance to percussion over the right chest. His ECG appears normal, but a supine CXR reveals a deep sulcus sign over the right costophrenic angle as well as tracheal deviation. You immediately place him on oxygen and prepare him for chest tube placement.

Pneumothorax

You are called emergently to see a newborn baby boy in the nursery. The mother reports that the baby started choking and coughing up breast milk upon her first attempt to feed him. On physical examination, the baby is excessively salivating and appears slightly blue in color. You order laboratory studies, expecting to find severe fluid and electrolyte imbalances, and you order a CXR to look for signs of a gastric air bubble. You also call a pediatric surgical consult as you suspect that the child will need immediate surgical repair of his condition

.Tracheoesophageal fistula

A 45-year-old man with a 3-year history of gastroesophageal reflux presents to a gastroenterologist with the chief complaint of increasing heartburn and regurgitation after meals. He has been taking antacids and proton pump inhibitors daily for the last year with reasonable relief of symptoms before the recent increase in heartburn and regurgitation even with antacid use. You, as the gastroenterologist, perform an endoscopy and find orange, gastric-type epithelium extending upward from the stomach into the distal esophagus in a circumferential fashion. You take a biopsy and send it to the laboratory for histologic studies, but you fear that this man is now at an increased risk for developing esophageal adenocarcinoma.

Barrett esophagus

A 55-year-old Caucasian man presents to your gastroenterology clinic. He reports that he has had difficulty keeping down both solids and liquids over the last several months. After obtaining a more detailed history, you find that the patient has regurgitated small amounts of undigested food after almost every meal for the last 3 weeks. He also complains of substernal pain even hours after eating small meals. A barium esophagography reveals a characteristic "bird-beak" at the LES. The patient asks what can be done to stop the pain and you answer that botulinum toxin can be injected directly into the affected esophageal site with relief that can last for months.

Achalasia

A 42-year-old African American man presents to the clinic complaining of heartburn 30 minutes after eating most meals. His pain is worst when he lies down after eating. He has been treating himself with baking soda with good results, but he is wondering if some pill could be prescribed instead. On further questioning, the patient denies any regurgitation or dysphagia. You prescribe omeprazole (a proton pump inhibitor) in lieu of the baking soda and suggest that he not recline for at least 3 hours after eating a large meal.

Gastroesophageal reflux disease

A 56-year-old man presents to the clinic with decreased ability to swallow solid foods even with extensive chewing. After taking a complete history, you learn that he has been avoiding large meals and has lost nearly 30 lb over the last 6 months. He has smoked two packs of cigarettes a day for 20 years and has a history of heavy alcohol use as well. He complains of pain in his throat when swallowing and has been coughing up small amounts of blood on occasion. On physical examination, you notice both cervical lymphadenopathy and hepatomegaly, as well as a hoarse voice when the patient responds to your questions. You order an endoscopy with biopsy to establish your suspected diagnosis.

Esophageal carcinoma

A 66-year-old woman presents to the emergency room complaining of several bouts of bloody vomit. Further history reveals that she has also been suffering from some epigastric pain. Past medical history is significant for osteoarthritis, for which she has been taking high-dose Motrin daily. You admit her for endoscopic evaluation and you suspect that she will need to consider alternative therapy for her osteoarthritis.

Gastritis

A 65-year-old man presents to the clinic complaining of epigastric pain after meals. After taking a more thorough history, you learn that he is a heavy smoker and that he has lost 10 lb over the last 4 months because of a decreased appetite connected with the pain associated with meals. He denies any frank blood in his stools, but he has noticed that his stool has been darker recently. You schedule an upper endoscopy to evaluate the patient further, but in the meantime you start him on a high-dose proton pump inhibitor.

Peptic ulcer disease

A 54-year-old Japanese American man presents to the clinic complaining of a gnawing epigastric pain. Upon taking a complete history, you learn that he has lost 20 lb over the last 2 months and has been vomiting after meals. The pain has not been relieved by the use of over-the-counter antacids. On physical examination, you note supraclavicular lymph node swelling and darkened, thickened skin in the flexural areas of the patient's legs and arms. You schedule the patient for an upper endoscopy with cytologic brushings and biopsies of any suspicious lesions as you fear that this patient may have a very serious condition

Gastric carcinoma

A 25-year-old woman presents to the clinic complaining of intermittent bouts of diarrhea and RLQ pain not associated with meals. The patient reports that she has been constipated for several days. Your physical examination is significant for a temperature of 100°F, several oral aphthous ulcers, and a palpable RLQ mass. The patient also complains of episodes of migrating joint pains and a periodic burning sensation in her eyes with blurred vision, although her eye examination is normal. The perianal region is normal upon examination, but the guaiac test for occult blood is positive. You order an upper GI series with small bowel follow-through to look for evidence of ulcers, strictures, or fistulas as you suspect that this patient's symptoms may be associated with a chronic disease

Crohn disease

A 23-year-old Irish immigrant presents to the clinic complaining of diarrhea that has been bothering him for 4 weeks. He tells you that he has bowel movements upward of 10 times a day. He describes his stools as soft, pale, large, floating, greasy, and foul smelling. On further questioning, he reveals that he also lost 7 lb over the past month even though his appetite has been greater than usual. Physical examination reveals loss of muscle mass and marked pallor, and the abdominal examination is significant for distention and hyperactive bowel sounds. Your suspicions are confirmed when serum studies reveal the presence of antigliadin antibodies

Celiac sprue

A 2-day-old baby boy with Down syndrome is examined in the neonatal ward because the child has failed to pass meconium. On examination, the child has abdominal distention consistent with an obstruction of the bowel. Realizing that the patient may experience a possible bowel perforation with resulting peritonitis if not treated immediately, you put the newborn on parenteral nutrition while you order a rectal biopsy in which you expect to see absence of ganglion cells in the muscle wall and submucosa of the rectal tissue.

Hirschsprung disease

A 65-year-old man presents to the clinic complaining of a mild aching abdominal pain in the LLQ. Upon taking a more detailed history, you learn that he has been constipated, while passing loose stools every other day for the past 5 days. He has vomited three times over the same period of time. On physical examination, he has a low-grade fever, a palpable LLQ mass with tenderness, and a positive stool guaiac test. Plain abdominal films find no evidence of free abdominal air. You decide to start the patient on an antibiotic regimen to treat his current symptoms and you inform the patient that a high-fiber diet will be necessary to treat his underlying disease.

Diverticular Disease (Diverticulitis/Diverticulosis)

A 32-year-old woman presents to the clinic complaining of blood-tinged diarrhea. She reports that she had four episodes of loose stool per day with intermittent rectal bleeding for the last 2 weeks. On further questioning, you learn that she frequently sits on the toilet with the urge to defecate but does not actually have bowel movements. On physical examination, the patient has LLQ tenderness and red blood is visible on digital rectal examination. You decide to order a flexible sigmoidoscopy, expecting to see continuous inflammation of the colon with rectal involvement and friable mucosal pseudopolyps

Ulcerative colitis

A 55-year-old man with a family history of colon cancer comes into the clinic for his annual colon cancer screening. You perform a routine fecal occult blood test that results in a positive reading. A flexible sigmoidoscopy is ordered during which several pedunculated polyps are visualized and biopsied. You inform the patient that you think that the chance of malignant progression of these neoplasms is not high, but you will have to await the results of the biopsies to be certain these polyps are benign

Adenomatous polyps of the colon

A 55-year-old white man presents to the clinic complaining of weakness and fatigue. After taking a detailed history, you learn that he has been suffering from intermittent rectal bleeding and loose stools and that he has lost 15 lb over the last 2 months. His family history is significant for colon cancer. On physical examination, the patient has marked pallor and a positive stool guaiac test. Laboratory tests reveal an iron deficiency anemia and elevated CEA levels. You schedule a colonoscopy with biopsy for pathologic confirmation of your presumptive diagnosis.

Colorectal adenocarcinoma

A 13-year-old girl presents to the emergency room with RLQ pain, nausea, and vomiting. Just 12 hours earlier, she was experiencing vague, colicky periumbilical pain. On physical examination, you find that the patient has a low-grade fever and localized tenderness with guarding in the RLQ when palpated. Laboratory studies show mild leukocytosis. You call the pediatric surgery team to prepare this patient for immediate surgery

(Acute) Appendicitis

A 50-year-old man presents to the emergency room complaining of abdominal discomfort. Upon taking a complete history, you find that he has had a dull ache in the RUQ for nearly a week and that he had a low-grade fever and a sense of malaise during the same period. He also complains that his urine has progressively become darker and darker even though he has kept himself well-hydrated. On physical examination, you notice a yellow discoloration of the skin and yellowing of the whites of the eyes. His liver is tender and enlarged, and he has appreciable ascites and asterixis. You order laboratory studies, specifically expecting to find increased conjugated and unconjugated bilirubin, increased urine bilirubin, and increased AST and ALT

Jaundice

A 30-year-old man presents to the clinic complaining of abdominal pain and dark urine. While taking a history, you note that the pain is localized to the RUQ and has been present for over 6 months. On physical examination, you notice yellowing of the skin as well as of the whites of the eyes. Hepatomegaly is present on abdominal palpation. The patient states that he is sexually active and has, on occasion, not practiced safe sex. He also admits to IV drug use. You order serum studies expecting to find elevated ALT and AST levels. You also order studies looking for serologic markers specific to this patient's most likely diagnosis.

Viral hepatitis

A 52-year-old man presents to the clinic complaining of fatigue, abdominal bloating, and loss of sex drive. Upon taking his history, you learn that the symptoms have come on slowly over the last year and that he is a recovering alcoholic. On physical examination, you note painful swelling of the breasts bilaterally, ascites, scleral icterus, jaundice, several capillary telangiectasias on his face, and 3+ ankle edema bilaterally. While awaiting laboratory studies, you start diuretic therapy and encourage continued abstinence from alcohol.

Hepatic cirrhosis

A 55-year-old man presents to the clinic complaining of weakness, fatigability, weight loss, and anorexia. He notes that he is thirstier and is urinating more frequently than usual. On physical examination, you note scleral icterus, jaundice, and hyperpigmentation of the skin on his trunk and extremities. You order serum studies, which reveal mildly elevated LFTs, increased serum iron, decreased TIBC, a transferrin saturation of 85%, and a serum ferritin level of 1500 µg/L. You explain to the patient that his disease will need to be treated with weekly phlebotomy and deferoxamine and that members of his family should consider undergoing genetic testing to see if they are susceptible to this condition

Hemochromatosis

A 48-year-old woman presents to the clinic with nausea and abdominal pain after a weekend of binge drinking. She admits to binge-drinking fairly regularly over the last 15 years. She complains that she has lost her appetite and you notice that she is jaundiced and has mild hepatomegaly upon palpation. You order serum studies that show an AST:ALT ratio of 2.5, as well as leukocytosis. Her serum ALP is also slightly elevated. You suspect that a liver biopsy would demonstrate macrovesicular fat, neutrophil infiltration with hepatic necrosis, Mallory bodies, and perhaps micronodular cirrhosis. You recommend that she refrain from using alcohol

Alcoholic liver disease

An 8-year-old boy presents to the clinic because his parents have noticed strange, jerky movements and drastic changes in his behavior and personality. His parents tell you that he has become much more emotionally labile and has been making statements that are out of context and incomprehensible. On physical examination, you see a brownish ring around the superior and inferior poles of the cornea. He has a resting tremor in both arms and hands. You order laboratory studies, which show a decreased serum ceruloplasmin and elevated levels of copper, amino acids, and glycogen in the urine. You begin the patient on penicillamine to increase urinary excretion of chelated copper.

Wilson disease

A 45-year-old woman presents to the clinic complaining of spitting up red blood. After taking a complete history, you learn that she has also recently started suffering from hemorrhoids with red blood found on the toilet paper after bowel movements. She had been previously healthy and she denies any significant alcohol use, history of hepatitis, or drug use. Her vital signs are notable for a blood pressure of 100/50 mm Hg. On physical examination, you note that she has pallor, ascites, and marked splenomegaly. Varices are seen around her belly button and external hemorrhoids are visible on rectal examination. You order laboratory studies that show normal LFTs, but evidence of hypersplenism. While awaiting imaging testing, you begin to suspect that a splenectomy would be curative for the underlying disease, which is causing her symptoms

Portal hypertension

A 48-year-old woman with a history of gallstones presents to the clinic complaining of a 1-day history of nausea, vomiting, and abdominal pain. She characterizes the abdominal pain as severe and steady and localized to the epigastric and RUQ region of her abdomen. Her vital signs are notable for a temperature of 101.1°F and you note inspiratory arrest on RUQ palpation. You order serum studies that demonstrate increased ALP, leukocytosis, and mild hyperbilirubinemia. You start her on antibiotics, but you suspect that she likely will need surgical intervention in the future to treat her condition

Cholecystitis (Acute/Chronic)

A 60-year-old Native American woman presents to the clinic complaining of a 3-month history of severe RUQ pain. On history, you learn that she has given birth to five children, is postmenopausal, and is currently taking HRT. She reports that the pain is exacerbated after she takes her grandchildren out for fast food and indulges in greasy foods herself. She also confesses that she does drink quite a bit on the weekends and feels abdominal pain shortly afterward as well. On physical examination, you note mild tenderness in the RUQ. You order an ultrasound, which you are confident will confirm your suspected diagnosis

Cholelithiasis/Gallstones

A 32-year-old woman presents to your office complaining of intermittent double vision. She tells you that this tends to occur in the afternoons and evenings. Physical examination reveals ptosis of both eyes that worsens when the patient is asked to actively keep her eyelids elevated. When her symptoms markedly improve after edrophonium administration, you wonder if she may also have a thymoma

Myasthenia gravis

A 2-month-old male infant is brought to the emergency department by his adoptive parents, who tell you that their baby has been fussy and seems to cry whenever his left arm is touched. On physical examination, you notice hypoactivity of the baby's left arm. You order an x-ray of the baby's arm, which reveals multiple fractures. On closer physical examination, you do not see any abnormal bruising of the trunk, back, or buttocks, making child abuse less likely, but you do observe that the child has blue sclerae. You begin to suspect that his condition may be related to a deficiency in type 1 collagen

Osteogenesis imperfecta

A 15-year-old adolescent boy presents to the emergency department with suspected fractures of the left tibia and fibula following a fall. He tells you that he has broken several bones in the past and that his mother has a bone disease. Physical examination reveals slight hearing loss, facial asymmetry, and hepatosplenomegaly. Laboratory tests demonstrate anemia and an x-ray of his left leg shows fractures of both the tibia and fibula as well as an Erlenmeyer flask deformity. As you set this patient's leg in a cast, you suspect that his condition is associated with defective osteoclasts

McCune-Albright syndrome/Osteopetrosis

A 68-year-old woman presents to your office complaining of aching lower back pain. Upon directed history, she tells you that she feels that she is getting shorter and you note that she is slightly hunched forward. An x-ray of her spine reveals a compression fracture of the L4 vertebra. When a bone density scan reveals decreased bone mass, you prescribe her a bisphosphonate as well as calcium and vitamin D supplements to treat her condition

Osteoporosis

A 74-year-old man presents to your clinic complaining of bone pain in his left thigh. He also states that his hearing has deteriorated significantly over the last 6 months. Laboratory results demonstrate an increased serum alkaline phosphate with normal calcium, phosphorus, and PTH levels. An x-ray of his left thigh shows mixed thickening and lucency of the bone. You worry that this patient's condition may put him at risk for osteosarcoma and high-output cardiac failure

Paget disease of bone

A 5-year-old boy is brought to your office by his parents, who are concerned about skeletal deformities. Physical examination reveals a short, pale boy with protrusion of the sternum, thinning of the occipital and parietal bones resulting in a squared appearance of the head, and the rachitic rosary. His parents tell you that he is well nourished and has had no prior medical problems. You advise that the boy begin taking vitamin supplements and get adequate exposure to sunlight. In the meantime, you schedule further tests to try and determine the etiology of this boy's condition

Osteomalacia/Rickets

A 19-year-old man presents to the emergency department complaining of right lower thigh pain following a fall. An x-ray of his right thigh reveals a fracture in a stalk of bone growth protruding from the end of his femur. Although you believe the growth to be benign and caused by an autosomal dominant trait, you order a bone biopsy to rule out malignancy. You expect that histological examination of the biopsy will reveal endochondral ossification over the medullary cavity with no evidence of atypical cells.

Osteochondroma

A 13-year-old adolescent boy presents to your office complaining of pain and swelling in his left knee. He denies any trauma to the knee and has no fever to suggest an infectious process. Laboratory tests reveal an increased serum alkaline phosphate, and an x-ray of the knee shows a mass with a sunburst growth pattern and a periosteal elevation by the mass, commonly called Codman triangle. You suspect that he will need chemotherapy and probable surgical resection, and you immediately refer the patient to an oncologist

Osteosarcoma

An 11-year-old boy presents to the emergency department complaining of a painful, swollen mass in his right leg. He denies any history of trauma to the leg. An x-ray of the mass demonstrates a lytic tumor with an onion-skin appearance in the medullary cavity of his right femur. You admit this patient to the oncology service and you fear that his prognosis is grim if the mass has metastasized

Ewing sarcoma

A 44-year-old woman presents to your office complaining of chronically swollen finger joints over the past 6 months. She tells you that the swelling and pain are usually most severe in the morning, but do resolve within a couple of hours. Physical examination reveals swelling of the PIP and MCP joints of both hands and subcutaneous nodules over both of her elbows. When laboratory results reveal the presence of a specific IgM antibody directed against the Fc fragment of IgG, you refer the patient to a rheumatologist for further treatment

Rheumatoid arthritis

A 74-year-old woman presents to your clinic complaining of stiffness and pain in both of her knees. Upon further questioning, she tells you that the pain becomes worse later in the day after she has been walking around. Physical examination reveals bilateral, swollen knees with mild joint effusion and crepitus with flexion. You also notice bony nodules on her DIP and PIP joints. You suspect that her condition is caused by the wear and tear of everyday life

Osteoarthritis

A 45-year-old obese man presents to the emergency department with a swollen, tender big toe on his right foot. He denies any trauma to the toe. Further questioning reveals that he had consumed a large amount of alcohol the night before. An aspirate of synovial fluid from the metatarsophalangeal joint of the right big toe demonstrates neutrophils along with needle-shaped, negatively birefringent crystals. You prescribe indomethacin to treat his condition

Gout

A 6-year-old boy presents to your office complaining of severe muscle weakness, especially of his thighs. The boy's parents tell you that his maternal uncle died of a muscle disease during adolescence. Physical examination reveals enlarged calves and decreased strength in the proximal muscles of the lower extremities. When you ask the boy to rise from a crouching position, you notice that he uses his arms to assist himself. Laboratory tests demonstrate increased serum creatine kinase levels. As you send the boy for a muscle biopsy, you begin to suspect that his prognosis is very poor

Duchenne muscular dystrophy

A 28-year-old man presents to your office complaining of generalized muscle stiffness. He mentions that his mother suffers from a disease causing similar symptoms. Physical examination demonstrates delayed relaxation of the hand muscles following prolonged grip and weakness of the distal muscles in the limb. You also notice testicular atrophy and frontal baldness during your examination. You prescribe phenytoin to treat his symptoms and you refer this patient to a medical genetics clinic.

Myotonic dystrophy

A 55-year-old woman presents to your clinic complaining of muscle weakness and a rash. She states that she has had increased difficulty rising from chairs and climbing stairs over the last 3 months, even though she used to be an avid athlete. On physical examination, you see a malar rash across the patient's face that is dusky red. There is marked erythema over her neck and shoulders, and she has frank periorbital edema as well as a purplish discoloration over her eyelids. Her hands are remarkable for scaly patches over the dorsum of the proximal interphalangeal and metacarpophalangeal joints bilaterally. You order serum studies to look at levels of creatine kinase and aldolase. You also order a muscle biopsy expecting to find lymphoid inflammatory infiltrates, which will confirm your suspected diagnosis

Myositides (Dermatomyositis//Polymyositis)

A 24-year-old African-American man presents to your office complaining of irregular depigmented patches on his hands and around his mouth. He has recently been diagnosed with Hashimoto thyroiditis. A skin biopsy reveals no melanin pigment as well as an absence of melanocytes. You recommend that he use copious sunscreen because his condition puts him at a greater risk for skin cancers

Albinism/Vitiligo

A 10-year-old boy presents to your office with a pruritic, vesicular rash. His mother tells you that he spent the previous day playing in the woods during a supervised summer camp outing. After ruling out any sort of infectious process, you prescribe topical corticosteroid creams and suggest that the boy avoid contact with certain plants to avoid recurrence.

Allergic contact dermatitis

A 1-year-old female infant is brought to your pediatric office by her parents for evaluation of a rash. The parents state that the child has had three episodes of an itchy, red, patchy rash, which has affected her face, wrists, and the creases of her elbows and knees, over the last 6 months. She has otherwise been a healthy child. Her parents are both relatively healthy as well, although her father tells you that he suffers from seasonal allergies and asthma. On physical examination, you observe a series of crusty, scaly, erythematous plaques on the patient's skin. You tell the parents that the child is likely suffering from a chronic condition of the skin and you suggest the use of topical corticosteroid creams as well as frequent applications of skin moisturizer to treat episodes of this condition

Atopic dermatitis (Eczema)

A 34-year-old woman presents to your office complaining of a chronic skin rash. The rash appears to consist of well-demarcated coral-colored plaques with silvery scales over the scalp, elbows, and knees. You discover that removing the scales results in pinpoint areas of bleeding. The patient also tells you that she suffers from some arthritic symptoms. You suspect that a skin biopsy would demonstrate acanthosis with Munro microabscesses, parakeratosis, and elongation of the rete ridges

Psoriasis

A 67-year-old man presents to your office after noticing a hard, red, ulcerated nodule on the back of his left hand. A skin biopsy of the nodule reveals cellular atypia and anaplasia throughout the epidermis and extending into the dermis, as well as hyperkeratosis with keratin pearls. You tell him that he has cancer, but reassure him that a simple excision surgery will likely cure his condition

Squamous cell carcinoma of the skin

A 62-year-old woman presents to your clinic complaining of a raised, ulcerated lesion on her right cheek. She tells you that she used to work as a gardener and enjoys working in her own garden several hours a day now that she is retired. Examination of the lesion reveals a pearly, ulcerated papule with overlying telangiectasias. When a skin biopsy demonstrates clusters of cells with dark blue nuclei surrounded by palisading basal cells, you reassure this patient that her condition, although serious, will likely be cured by a simple surgical excision of the lesion

Basal cell carcinoma

A 48-year-old man presents to your office after noticing an irregularly shaped lesion on the extensor surface of his left forearm. He mentions that he had noticed the spot before, but it has recently changed color from a light brown to a dark reddish purple and it now seems to be more raised than it used to be. Examination of the lesion reveals a poorly defined, hyperpigmented, multicolored nodule. You also note left axillary lymphadenopathy. When a biopsy of the lesion demonstrates nests of atypical pigmented cells invading the dermis, you suspect that there is a high probability that this lesion has metastasized and you refer the patient to an oncologist

Malignant melanoma