A 68 year old Asian female with HIV who presents with fever and SOB. Patient was in her usual state of health until approximately one month ago when she came to the ER with a three day history of cough and fever. She described a persistent dry cough associated with a burning sensation in her chest and occasional wheezing. In addition, she had SOB with even minimal exertion and felt very lethargic. She felt that her cough and SOB progressively worsened over the past week. Three days prior to admission, she developed watery diarrhea, approximately 5-6 BM a day. She denies N/V, melena, hematochezia.
T 38.8, P 84, BP 108/62, R16, 99% RA
Lungs: diffuse expiratory wheezes bilaterally
Abd: soft, NT, slightly distended, NABS, no HSM
CD4 316 and VL <48
wbc 21, hgb 8, plt 220
35% Polys, 17% Lymphs, 8%, Monos, 40% Eos
CXR: heart size normal, patchy infiltrates in bilateral bases
An 85-year-old Caucasian male was referred to the oral and maxillofacial department complaining of a loose upper denture and extrusion of ‘sharp fragments’ bilaterally from his gums. He also gave a recent history of recurrent nasal discharge.
On examination the patient was edentulous, but had evidence of bony protrusions:
The report of the CT indicated the appearances were highly suggestive of a diffuse malignant process although an extensive erosive or inflammatory process could not be excluded from the differential diagnosis.
In order to relieve his symptoms and reach a diagnosis, partial debridement of the area (including removal of the bony sequestra) was undertaken and the tissue was sent for histological examination. The histology report showed the following:
Case challenge #16 presented a 19 yo white male hand tremors, new psychiatric disturbances, slurred speech, drooling, and difficulty walking. Work-up reveals imaging findings suggestive of cirrhosis. The test most likely to help reveal the diagnosis is CERULOPLASMIN for a diagnosis of Wilson’s Disease.
92.5 percent of respondents got the correct answer – looks like we will have to find a tougher case next week! Take a look below for the common diagnostic tests for Wilson’s Disease, as well as the diagnostic criteria:
Case Challenge # 15 presented a 42-year-old white female with recurrent pneumonia in the setting of chronic dyspnea x 15 years without a determined etiology. She also has a history of COPD without smoking and recurrent sinus infections since childhood. She also notes chronic loose stools with occasional constipation for 10 years. Her mother also had COPD and recurrent sinus infections. Exam reveals no clubbing or nasal polyps. CT chest reveals bronchial wall thickening and dilatation predominantly in the lower lung fields consistent with bronchiectasis.
Which of the following is the best initial test to establish the diagnosis?
(results of voting)
The correct answer is measurement of immunoglobulinlevels!
The patient has CVID (common variable immunodeficiency)
CVID is a heterogeneous disorder characterized by markedly reduced serum concentrations of IgG, low levels of IgA and/or IgM, and poor or absent responses to immunization.
The disorder affects males and females equally, and usually has a later age of onset than other antibody-deficiency disorders (i.e., > 10 years of age).
It is associated with recurrent sinopulmonary infections, autoimmune and granulomatous disease, gastrointestinal complications and an enhanced risk of malignancy (e.g., lymphoma and gastric carcinoma).
Some patients may also present with bronchiectasis (irreversible widening of portions of the bronchi resulting from damage to the airway wall), which is a common cause of morbidity and mortality in these patients.
Ig replacement therapy is the mainstay of therapy for antibody-deficiency disorder
Antibiotic and antifungal prophylaxis are also recommended for some to prevent the frequency and severity of infections.
Case challenge #16 (aka the Parkland Files!) will be posted next week!
A 42-year-old white female presented with a history of high-grade fever and yellow productive cough for one day. The cough is associated with pleuritic chest pain and shortness of breath at rest. This is the 2nd episode in the last year. The patient describes chronic dyspnea for approximately 15 years limiting her ability to perform household activities. A review of systems was significant for chronic fatigue and weakness for 15 years, and chronic loose stools with occasional constipation for 10 years. Medical history includes COPD and recurrent sinus infections. No smoking history. Her mother also had COPD and recurrent sinus infections. Medications included levalbuterol, montelukast, fluticasone/salmeterol.
T 99.8°F, HR 137/min, BP 109/59 mmHg, RR 26/min, 98% sat
No clubbing or nasal polyps
Remainder of the physical examination was within normal limits.
Case Challenge #14 presented a 46 year old female presenting with a persistent cough for 10 years, no significant exposures, no smoking history, no travel, and an otherwise negative ENT, allergy, GI, speech, etc. work-up. PFTs reveal obstructive pattern, but standard COPD medications do not prove to be helpful. CT reveals bilateral nodular disease and mosaicism. Biopsy of the lung reveals neuroendocrine cell hyperplasia which stain for carcinoid.
Definition: Hyperplasia of bronchial neuroendocrine cells in airway epithelium with aggregates of cells (“tumorlets”) extending beyond the basement membrane
first described in 1992 (Aguayo et al, NEJM)
typically female nonsmokers, mean age 45 years
absence of other pulmonary processes or environmental exposures to explain symptoms
years of cough, +/- wheeze and dyspnea
PFTs: irreversible airflow obstruction & a third of patients had restriction
CT: multiple nodules and air-trapping due to bronchiolitis. Moasaicism.
Management: “…longterm follow-up and treatment remains incomplete…” (Am J Resp Crit Care 2011)
COPD management: BA +/- inhaled or systemic steroids for symptomatic relief
Serial CTs to watch for development of carcinoid tumors
“Given its only minor risk of invasive metastatic spread, serial imaging for timely detection of progressing lesions and optimizing of concomitant obstructive pulmonary disease are the preferred treatment approaches.” (Dtsch Med Wochenschr. 2014 Jun;139(23):1245-8. doi: 10.1055/s-0034-1370073. Epub 2014 May 27.)
There is some evidence that somatostatin analogues are helpful, but long-term safety and efficacy data are lacking
Case challenge #14 (aka the Parkland Files!) will be posted next week!
A 46 year old female presents to clinic for followup of chronic cough (10 years duration). She was first evaluated 4 years ago with dry cough, diarrhea, and weight loss. She denies dyspnea, wheezing, sputum, or fevers. No travel or smoking history. No birds or occupational exposures. Seen by ENT, allergy, GI, speech therapy; she has had 24h ambulatory ph monitoring (no reflux found); laryngoscopy (no vocal cord dysfunction), skin testing for allergens (negative). She has been treated with BID Nexium, nasal steroids, inhaled steroids, systemic steroids, bronchodilators, leukotriene antagonists, and ipratropium with no change in cough. No rashes, joint pain, dysphagia, skin change, hair changes, fevers, chills, malaise or other symptoms.
T 98.5 HR 85 BP 111/72 RR 14 100% room air BMI 23
Gen: well appearing, mild coughing, no distress. Otherwise, exam is normal.
Pertinent negatives: no oral ulcers, no cardiac murmurs or rubs, clear lungs, no wheezes, normal effort, symmetric diaphragmatic excursion, no HSM, no skin rashes, no joint swelling or effusion, no nailbed changes, no sinus tenderness, normal tympanic membranes, no lymphadenopathy.
Case challenge # 13 presented a 20-year-old white male with fever, conjunctival injection, cervical lymphadenopathy, cracked/red lips, a macular rash, swelling in his hands, a history of tonsillar abscess, and elevated inflammatory markers. Work-up for infectious disease and auto-immune disease are negative.
What is the most likely diagnosis?
The correct answer is Kawasaki Disease!
Kawasaki disease (KD), also known as mucocutaneous lymph node syndrome, is an acute necrotising vasculitis of the medium- and small-sized vessels. It was first described by Tomisaki Kawasaki in 1967. It occurs most often in babies and children, aged 6 months to 5 years and the male-to-female ratio ranges from 1.5–1.8 to 1. KD is most prevalent in Japan, while Korea holds the second place as to the number of patients. Its incidence in Japanese and Korean children living in the USA and following a Western lifestyle is higher than in Caucasian children. Since the disease is not common in adults, it is very often misdiagnosed. As of earlier this year, approximately 100 cases in the world population.
Diagnostic Criteria: Fever persisting at least 5 days and the presence of at least 4 of the following 5 principal features:
Changes in extremities: Acute: Erythema and edema of hands and feet Convalescent: Membranous desquamation of fingertips
Bilateral, painless bulbar conjunctival injection without exudate
Changes in lips and oral cavity: Erythema and cracking of lips, strawberry tongue, diffuse injection of oral and pharyngeal mucosae
Cervical lymphadenopathy (≥1.5 cm in diameter), usually unilateral
*Patients with fever and fewer than 4 principal symptoms can be diagnosed as having Kawasaki disease when coronary artery disease is detected by 2-dimensional echocardiography or coronary angiography. Other diagnoses should be excluded. The physician should be aware that some children with illness not fulfilling these criteria have developed coronary artery aneurysms.
Case challenge #14 (aka the Parkland Files!) will be posted next week!
A previously healthy 20-year-old white male presents with high fever (up to 40°C, unresponsive to anti-inflammatory drugs), appetite loss, nausea and vomiting, persistent headache and a feeling of significant malaise for 5 days. He was diagnosed at an outside hospital with an atypical infection and had received azithromycin for 3 days, without any improvement.
Denies travel, IV drug use, new sexual partners or tattoos. He has no animal exposure.
He does not use tobacco products or alcohol and has not taken any medications. Family history is negative. Several episodes of tonsillitis and tonsillar abscess as a child.
T: 38.3°C, BP: 80/50mmHg, P: 100 bpm, O2 sat 92%.
Bilateral conjunctival chemosis
L cervical lymphadenopathy
Cracked, red lips and tongue, dry mucus membranes
Tachycardia with S3 and S4 gallop
Faint macular skin rash of his trunk, edema of palms and soles, desquamation of fingertips
Examinations of his lungs, abdomen, neurological and musculoskeletal systems were normal.