DDx Case 1. Epigastric abdominal pain. Sudden onset.
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50 y/o. Male patient. Sudden onset of pain several hours ago. The pain is a pressure-like sensation in the mid/upper abdomen, which Is not particularly severe. Patient had never had this symptom before.
He reports no fever, nausea, vomiting, or diarrhea. His appetite Is diminished, and he has not had a bowel movement since the onset of pain. He reports no history of urinary symptoms such as frequency, dysuria, or hematuria.
His past medical history is unremarkable.
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Vitals;
Auscultate heart and lungs;
Palpate abdomen;
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CBC with diff;
Troponin/CK-MB;
Lipase/amylase;
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Abdominal with contract;
Chest x-ray;
ECG;
Endoscopy with biopsy;
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DDx Case 2. Epigastric abdominal pain. Recurrent.
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50-year-old female who complaining of epigastric. She has been having "attacks" of abdominal pain over the last month, with about 3 "attacks" last up to 4 hours during this time. The last attack was 4 days previously. She reports that the attacks of pain often awaken her at night. The pain Is described as a severe cramping-like sensation that is very intense and steady for hours. Occasionally, the pain radiates to the right back. The pain is associated with emesis.
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Vital signs. Check sclera color. Lungs are cardiac exams. Abdominal exam. Murphy sign. CVA;
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CBC with dif;
ALT/AST/bilirubin;
Calprotectin;
troponin/CK-MB;
ESR/CRP;
Fecal elastase;
UA;
FOBT;
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US of Abdomen;
CT with contrast of AB;
Colonoscopy;
Endoscopy;
ECG;
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DDx Case 3. Abdominal pain, periumbilical, new onset.
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Previously healthy 63-year-old man with severe abdominal pain for 48 hours. The pain Is periumbilical with severe crampy exacerbations that last for several minutes and then subside. He note loud intestinal noises (borborygmi) during the periods of increased pain. The pain is associated with nausea and vomiting. He denies diarrhea.
He reports decreased appetite with no oral Intake In the last 48 hours. He denies having this pain previously.
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Vital signs. Abdominal exam.
Murphy sign. Rebound tenderness.
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CBC with dif;
Elastase/lipase;
Calprotectin stool test;
ALT/AST/bilirubin;
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AB x-ray;
CT with contrast;
CT angiography;
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Presentation Case 1. Herpes Simplex (HSV)
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An in ant with a history o eczema treated with corticosteroids is brought in with a new-onset rash and ever. Physical examination reveals grouped vesicles involving eczematous areas o the infant’s extremities and face.
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This in ant has eczema herpeticum, a medical emergency that is due to the
propensity or HSV in ection to spread systemically, potentially a ecting the
brain. IV acyclovir must be started immediately!
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Presentation Case 10. Neisseria meningitidis
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A 19-year-old college student is brought to the ED from her dorm room, where she was found by her roommate in a confused state. She complains of fever, nausea, vomiting, and pain in her neck and head. She has a petechial rash on her legs.
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CSF examination reveals a glucose level o 22 mg/dL, a protein level o 140 mg/dL, and a WBC count of 1400/mm3.
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Neisseria meningitidis. Suspect meningococcal meningitis in a very ill patient with ever, headache, altered mental status, a petechial rash in the lower extremities, and a CSF pro le indicative o bacterial meningitis.
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Presentation Case 11. Histoplasmosis
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A 35-year-old HIV-infected man from Ohio presents to his primary care provider with low-grade ever, dry cough, malaise, and a 5-lb weight loss over the past month. He is adherent to his HIV medications. Physical examination shows hepatosplenomegaly and palatal ulcers. His CBC reveals pancytopenia, and a CXR shows hilar lymphadenopathy.
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The patient has clinical features of disseminated histoplasmosis ( ever, malaise, weight loss, pancytopenia, hepatosplenomegaly, palatal ulcers).
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Presentation case 12. G6PD Deficiency
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A 23 year old male patient presented with diffused pain abdomen and vomiting for two days, yellowish discoloration of urine, sclera and skin for one day, acute breathlessness for four hours.
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Fever (100.4°F), pallor, moderate icterus, high pulse rate(124/minute), respiratory rate of 28/minute, cyanosis and reduced oxygen saturation.
In Systemic Examination: Chest: Air entry diminished over bases, CVS: Normal, per Abdomen: mild distension (+) and liver was just palpable which was confirmed by ultrasonography.
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Hemoglobin 9.6 gm/dl, TLC 38,840/μl with neutrophilia, reticulocyte count 5%, serum bilirubin (T) 24.95 mg/dl, serum bilirubin (D) 3.43 mg/dl, serum bilirubin (I) 21.52 mg/dl , SGPT 61.39 IU/L, SGOT122.48 IU/L,GGT 39.37 IU/L, blood urea 68.62 mg/dl, S.Creatinine 0.62 mg/dl, G6PD (Qualitative)-discoloration in more than 60 minutes, urine – red/brown, negative screening for malarial parasite and dengue.
On day two patient’s condition deteriorated. Hemoglobin 5.4 mg/dl and total bilirubin 17.08 mg/dl, s.bilirubin (D) 4.10, s.bilirubin (I) 12.98 mg/dl. Treated with four units of leukocyte reduced packed RBCs. Hemoglobin increased to 8.0 gm/dl but patient started passing black color urine.
Repeat blood grouping, auto control, direct and indirect coombs test were negative.
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Abdominal US;
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Support and O2 inhalation. Hospitalistion.
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Presentation case 13. Gilbert syndrome
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A 14 year old boy hailing from Bishal Nagar, Kathmandu admitted in Paediatric ward KMCTH with history of yellowish discolouration of sclera for 10 days. There were no other complaints. Urine colour was normal. Child had history of similar illness one year back and also 3 months back, which subsided on its own. For present complaint, child was shown to Ayurvedic doctor who advised restriction of diet including fatty meals. However, mother noticed the deepening of jaundice in sclera without any abnormality in urine colour.
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Mild jaundice present, but no other abnormal physical findings were evident.
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Normal haemoglobin;
Normal ESR;
Adequate platelets;
Reticulocyte was within normal limit (0.5%);
Peripheral blood picture showed no abnormality including any features of haemolysis
Osmotic fragility - within normal limit;
Liver function tests within normal limit;
The maximum total and indirect serum bilirubin reached were 5.3mg/dl and 4.9mg/dl respectively.
DDx: possibility of Gilbert syndrome.
Fasting or provocation test (child kept on 400Kcal/day for 48 hours).
Serum bilirubin.
Before fasting: Total-1.5 mg/dl; Indirect-0.75 mg/dl;
After 48 hours of fasting: Total-3.61mg/dl; Indirect-2.16 mg/dl;
Urine, stool within normal limits.
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Chest radiograph within normal limits.
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Presentation case 14. PANDAS
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Frances was a 5-year-old Caucasian girl who presented to the outpatient psychiatric clinic at the National Institute of Mental Health (NIMH) for evaluation and treatment of sudden-onset motor and vocal tics and obsessive-compulsive symptoms.
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https://ajp.psychiatryonline.org/doi/10.1176/ajp.155.11.1592
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Presentation case 15. Wilson Disease
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Patient was a 55 year old male who presented in the out patient department with a history of swelling of the abdomen and was provisionally assigned a diagnosis of liver cirrhosis on basis of clinical findings and the ultrasound
report. Liver showed coarse echotexture. Portal vein was dilated. Collaterals were seen and gross ascites was present.
However the etiology of cirrhosis was not obvious. The patient denied history of alcohol intake and was negative for hepatitis B and C. A head tremor was noticed at that time but no correlation was made. The patient promised to return for further investigation and was put on diuretics. He improved and returned after a week and confessed that he had been
diagnosed earlier as a case of Wilson’s disease 12 years back at the age of 43 years when he had reported to a hospital for some knee ailment. At that time the attending doctors noticed his head and hand tremor and sent him for MRI following which the eye specialist reported a Kayser-Fleischer ring.
Further biochemical investigations confirmed the diagnosis. At that time the patient did not have any clinically apparent liver disease.
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https://www.ijcmr.com/uploads/7/7/4/6/77464738/ijcmr_2621.pdf
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Presentation case 16. Serotonin syndrome
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A 21-year-old female with a history of generalized anxiety disorder and major depression presented with increased depressive symptoms over several months while taking fluoxetine 20 mg daily. Fluoxetine was discontinued without taper and replaced with paroxetine 10 mg daily, along with hydroxyzine 50 mg twice daily as needed for anxiety. Within a week of starting the paroxetine, the patient reported increased anxiety, insomnia, and constant shaking. The paroxetine continued to be uptitrated over a 3-week period to a dose 30 mg due to unremitting depressive symptoms. One month later, the patient presented with tachycardia, generalized body aches, extreme fatigue, weakness, uncontrollable twitching, tremor, and hyperreflexia. A widespread burning sensation accompanied by random hot flashes without diaphoresis was also noted.
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Hunter's Decision Rules for Diagnosis of Serotonin Toxicity;
Paroxetine was discontinued, and the patient's physical symptoms resolved within a week.
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Presentation Case 2. Pellagra
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A 53-year-old woman with a history o carcinoid tumor o the appendix
(status post resection) presents to a local clinic with symmetric, dry,
hyperpigmented skin lesions and persistent diarrhea. Her husband
expresses concern that the patient does not seem to be herself anymore;
he reports that she has been irritable, confused, and forgetful. What is the
most likely diagnosis?
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Pellagra, a deficiency o vitamin B3 (niacin), 2° to a recurrent carcinoid tumor. Carcinoid tumors produce serotonin, which is a derivative of tryptophan. However, tryptophan is also the precursor o niacin. In
patients with carcinoid tumors, the tumor can be so active that most
tryptophan is used or serotonin production, resulting in niacin
deficiency.
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Presentation Case 3. Gilbert syndrome
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he midst o f nal exams presents to a local clinic with “yellow eyes.” His
physical examination is unremarkable except or scleral icterus, and a
CBC and blood smear show no abnormalities. A comprehensive metabolic profile reveals a normal AST and ALT but elevated unconjugated bilirubin.
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Gilbert syndrome is an autosomal recessive disorder o bilirubin glucuronidation due to ↓ activity of the enzyme glucuronyl trans erase.
Patients present with unconjugated hyperbilirubinemia but have a normal
CBC, blood smear, and LFTs. The condition is benign, and no treatment
is indicated.
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Presentation Case 4. Non-alcoholic fatty liver disease (NAFLD)
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A 36-year-old woman with a past medical history of hypercholesterolemia and type 2 DM presents with intermittent dull RUQ discom ort. The patient
does not drink alcohol. Her physical examination is unremarkable. Lab
studies show elevated AST and ALT but are otherwise normal. Hepatitis
serologies are negative.
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Non-alcoholic fatty liver disease (NAFLD), a condition that is associated with insulin resistance and metabolic syndrome.
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Presentation Case 5. Hemophilia A
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An 8-year-old boy from eastern Europe presents with severe swelling and warmth of his knee several hours after a minor “bump” against a lamppost.
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This boy (X-linked) probably has hemophilia A (most common), which is most accurately diagnosed with a speci c factor VIII level.
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Presentation Case 6. Hemolytic uremic syndrome (HUS)
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An 8-year-old girl presents to the ED with 2 days o ever, vomiting, bloody diarrhea, and irritability. She began feeling unwell a ter attending a classmate’s birthday party. Her labs reveal thrombocytopenia, an ↑ creatinine level, and schistocytes.
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Hemolytic uremic syndrome (HUS) is the most common cause of acute renal failure in children.
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Presentation Case 7. Folate deficiency
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A 49-year-old man comes into the clinic complaining o “tiredness” over the last several months. His past medical history is significant or hypertension, diabetes mellitus, and alcohol abuse. A CBC reveals a low hemoglobin and an MCV o 115.
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The patient has a megaloblastic anemia caused by either a B12 or folate deficiency. His history o alcohol dependence strongly suggests folate deficiency, as that is the most common cause of megaloblastic anemia in alcoholics.
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Presentation Case 8. Thalassemia
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A 30-year-old man rom Greece comes to your office complaining of chronic fatigue. He has no signi cant past medical history and is on no medications. A CBC shows hemoglobin of 10.4, MCV of 71. You start him on oral iron supplements and see him back in 4 weeks with no change in the CBC.
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The most likely diagnosis is β-thalassemia minor. Recognize that this patient has a microcytic anemia that did not respond to iron supplements (probably has normal iron studies) and is from the Mediterranean.
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Presentation Case 9. Hypocalcemia
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A 35-year-old man is airliаted to the ED a ter a motor vehicle accident. He
requires multiple trans usions, which stabilize his BP and hemoglobin. The following morning he is trans erred to his hospital room, where he begins to
complain o numbness in his ngers. A prolonged QT interval is noted on an
ECG.
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This patient presents with symptoms o hypocalcemia following multiple
blood transfusions. Blood products o ten contain citrate, which binds to serum calcium, leading to hypocalcemia, which can cause prolonged QT intervals.
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