The following case studies are not actual patients. They combine elements from different cases to emphasize important aspects
HISTORY: Patient Presentation
A four-year-old African American male diagnosed with sickle cell disease in the newborn period was admitted to the hospital with abdominal pain. Two days prior to admission, he was seen in the emergency room for abdominal pain and sent out on pain medicine.
|Height||100 cm (25th percentile on growth chart)|
|Weight||15 kg (25th percentile on growth chart)|
|Blood Pressure||100/60 mmHg|
|Oxygen Saturation Level:||87% (normal range: 92%-98%)|
|HEENT:||Normocephalic, pupils reactive, tympanic membranes clear, oropharynx clear|
|Chest:||Mild subcostal retractions. Audible rales at lung bases.|
|Heart:||Tachycardic with III/VI murmur|
|Abdomen:||Mild distension, diffusely tender to palpation|
|Genitourinary:||Circumcised male, no priapism|
|Neurologic:||Crying, alert boy. Face was symmetric. Moved all extremities.|
|Patient Value||Normal Value|
|Rectic Absolute||0.2125||0.024-0.084 M/μL|
1 What history, including symptoms, would be most helpful in evaluating this patient?
2 What does a prior history of abdominal pain reflect? What does Bone pain and swollen, painful fingers (dactylitis) reflect in this disease?
3 He had a temperature of 101 degrees Fahrenheit yesterday.what does that indicate?
4 He has been coughing 2-3 times a day and intermittently through the night.what does that indicate??
5 Does family history indicate sickle disease?
6 What additional physical findings might occur in patients with sickle cell disease? Discuss Jaundice and Splenomagaly??
7 What other labs would you request? Compare the lab findings with normal ranges
Discuss Peripheral smear, hemoglobin electrophoresis,
Blood culture; Blood Type and screen for antibodies LDH; Haptoglobin levels
Amylase and Lipase
8 Discuss MCV, MCH, RDW, ESR, Hematocrit and red cell morphology in this disease
9 What was your differential diagnosis when you first saw the patient? Discuss the following in diagnosing the disease
Cholecystitis; Pneumonia; Upper respiratory tract infection; Vaso-occlusive pain crisis
10 what are the differences between sickle cell disease, HbC, HbE and Thalassemia diseases?
11 Discuss Iron deficiency anemia, thalassemia syndromes and sickle cell anemia
12 How would you treat this patient?
On review of symptoms, The patient reports difficulty concentrating, fatigue, feeling faint when she stands quickly, and vague gastrointestinal discomfort with some decrease in appetite.
She denies any history of previous trauma, diplopia, dysphagia, vertigo, vision loss, loss of consciousness, back pain, or symptoms of bowel or bladder dysfunction.
Her family history is negative for neurologic, psychiatric, and autoimmune diseases. Her medications include an antihypertensive as well as an occasional anti-inflammatory drug for episodic headache. Social history reveals a single woman who smokes about one-half pack of cigarettes per day, drinks alcohol only socially, and denies illicit drug use. She has a high school education and, until recently, has worked in the office of a trucking company.
Pale 65 y.o. WF who appears well-nourished, alert, and oriented.
|Summary of Physical Examination|
|Vital Signs||T-98.6, HR-76, R-18, B/P-130/80 supine and 95/52 upon standing|
|Head||Normocephalic; oropharynx clear but pale; palpebral conjunctivae pale|
|Neck||Supple, full active and passive ROM without pain, without audible bruits; no lymphadenopathy; no thyromegaly|
|Back||No spine tenderness|
|Lungs||Clear to auscultation|
|Heart||Regular rate and rhythm; no murmurs|
|Abdomen||Soft, nontender; no organomegaly|
|Rectal||Normal rectal tone; no fissures|
|Extremities||No clubbing, cyanosis, or edema; FROM|
|Skin||Pale; no rash|
The general physical exam is unremarkable except for orthostatic hypotension and weight loss of 3 pounds since her last visit 6 months ago. She is alert and oriented times three. Her Mini-Mental Status Exam score is 26 out of 30. She misses one point on serial 7s and is able to recall three of three items. There is evidence of bilateral mildly diminished vibration and proprioception. Her reflexes are 3+/4+ throughout with negative Babinski reflex.
You order routine laboratory studies, which include complete blood count (CBC) with smear and chemistry screen. In addition, you order a serum vitamin B12 level to investigate further the etiology of her fatigue and pale mucosa. Results from the CBC and smear reveal a borderline macrocytic anemia. The chemistry panel is within normal limits. The serum vitamin B12 level you requested is 215 picograms per milliliter (pg/mL). This level is considered within a “normal range” by some laboratories, but you take into account her other signs and symptoms and request confirmatory testing with methylmalonic acid (MMA) and homocysteine (Hcy) levels.
Results of Confirmatory Testing
Both MMA and Hcy levels are elevated. Her MMA is greater than 0.5 micromoles per liter (μmol/L), and her Hcy is greater than 17 μmol/L, confirming your suspicion.
you order an anti-intrinsic factor (IF) antibody test
Answer all the questions with details:
1 Based on the case history and lab data what is your diagnosis?
2 Do any of the presenting complaints raise your index of suspicion about a possible B12 deficiency?
3 Do you think that the risk factors this woman appear to have for a vitamin B12 deficiency?
4 Are there any aspects of her physical examination that suggest a vitamin B12 deficiency?
5 outline differential diagnosis and indicate how you proceed with the treatment?
A 17-month-old male is admitted to the hospital with a two-week history of fever (T max 104° F) and a two-day history of rash on his legs. Ten days ago, his primary care physician treated him with a 7 day course of Ceftin for a presumptive diagnosis of otitis media. Upon follow-up visit, it was found that he was still febrile and required ibuprofen nearly daily to control fevers. It was also found that he had lost weight, presumed to be due to decreased appetite.
Height: 83 cm (75th percentile)
Weight: 10 kg (10th percentile)
• Temperature 36.8 (axillary)
Normal range (36.0-36.9)
• Heart rate: 152
Normal range (80-130)
• Resp. rate: 48
Normal range (20-30)
Normal range (100-129/50-59)
Snotty lymph node enlargement diffusely through both anterior cervical chains.
Pale, scattered red-purple spots ranging in size from 1-3 mm and non-blanching, located over legs,back, arms and trunk
The results from the CBC on admission are as follows:
Test [Patient Result Normal Range
Hemoglobin 8.9g/dl 10.3-14.9 g/dL
Hematocrit 26.9% 33-44%
MCV 86.8Fl 73-91Fl
MCH 29.7Pg 29.5-36Pg
MCHC 33.1g/dL 29-36g/dL
RDW 15.8% 12-14%
WBC 5,200ul 4,800ul – 10,800ul
Platelets 12,000/ul 150-400,000/uL
The patient was started on combination chemotherapy consisting of Prednisone, Vincristine, and L-asparaginase (induction phase).
What is your diagnosis?
What tests are needed to diagnose the disease?
Discuss Differential diagnosis