Jessica Higgs, MDBradley UniversityACHA Annual MeetingBoston, June 1, 2013

Identify how to approach difficult unknown case presentations

List differential diagnoses for unknown case presentations

Describe common pitfalls in the approach to difficult cases

Hematology

20 yo AAF presents to the clinic for evaluation of lump in left armpit

States initially noticed lump 6 weeks ago and at that time it was painful

Returned a few days ago but not painful and seems to be getting smaller

No rashes or other lesions noted No other complaints

Exam Vitals – BP 108/60, P 80, Temp 98.9, R 12 NAD Left armpit – palpable firm elongated

nodule, movable, nontender Anterior cervical, posterior cervical, right

axilla, groin exam negative for further enlarged lymph nodes

Patient returns 1 week later States size has been fluctuant over last

week Has become painful again Complains of fatigue, cold symptoms,

loss of appetite, headaches

Exam Vitals – BP 120/70, P 68, T 97.3 CV – RRR, no murmurs Resp – CTA Bilaterally Left axilla – mobile, nonerythematous, no

warmth, slightly larger than previous exam No other lymph nodes palpable

Exam Vitals – BP 120/70, P 68, T 97.3 Left axilla – mobile, nonerythematous, no

warmth, slightly larger than previous exam No other lymph nodes palpable

Labs CBC ESR mono

F/U 1 week later Thinks lymph node may be smaller again

otherwise no change in symptoms CBC

WBC 3.6 Neutrophils – 33, Lymphocytes – 53, Monocytes - 14

ESR - 30 Mono - negative

Exam Vitals – P 72, T97, R 14 Left axilla – 5mm x 2mm firm mobile lesion Shotty lymph nodes anterior cervical area

and right groin

Exam Vitals – P 72, T97, R 14 Left axilla – 5mm x 2mm firm mobile lesion Shotty lymph nodes anterior cervical area

and right groin Labs

CRP LDH

F/U 2 days later for labwork CRP – 1.43 LDH – 853

F/U 2 days later for labwork CRP – 1.43 LDH – 853 Patient does not have insurance

coverage outside of home area Sent home for CXR and lymph node biopsy

DIAGNOSIS????

Rare, benign condition of unknown cause Characterized by cervical

lymphadenopathy and fever in previously well individual

Women are more common than men and most patients younger than 40

Most frequently reported in Asia, but found in all racial and ethnic groups

Some similarities to SLE

Richards, M. Kikuchi’s disease. UpToDate 2013

Differential diagnosis Lymphoma Tuberculous adenitis Lymphogranuloma venereum Kawasaki disease

Richards, M. Kikuchi’s disease. UpToDate 2013

Clinical symptoms include: Low grade fever Lymphadenopathy, most commonly cervical and

localized Fatigue Joint pain Rash Arthritis Hepatosplenomegaly Night sweats Nausea/ vomting Weight loss

Labs Leukopenia in 30%, ESR elevation in up to 70%

Richards, M. Kikuchi’s disease. UpToDate 2013

Diagnosis made by lymph node biopsy Paracortical foci often with necrosis and

histiocystic cellular infiltrate No effective treatment known,

symptoms usually resolve within one to four months

Recurrences have been reported and can develop SLE

Richards, M. Kikuchi’s disease. UpToDate 2013

Gastroenterology

22 yo WM presents to the clinic for abdominal pain

Right sided pain for 16 hours No fevers or chills, no nausea,

vomiting, diarrhea or constipation Decreased appetite but drinking fluids

Exam Vitals – BP 120/80, T 98.1, P – 80, R – 12 NAD Abdomen – soft, +tenderness without

distension, Negative Murphy’s, McBurney’s, rebound

Positive right CVA tenderness

Exam Vitals – BP 120/80, T 98.1, P – 80, R – 12 NAD Abdomen – soft, +tenderness without

distension, Negative Murphy’s, McBurney’s, rebound

Positive right CVA tenderness Labs

CBC UA

F/U the following day Right sided abdominal pain getting

worse, now rates 7/10 Constant sharp pain with radiation to

back Anorexia and mild nausea Pain with walking No constipation or diarrhea

Exam Vitals – BP 122/80, T 98.3, P 96, R 12 +tenderness right side, +McBurney,

+rebound, +guarding Negative murphy, psoas, obturator signs

Exam Vitals – BP 122/80, T 98.3, P 96, R 12 +tenderness right side, +McBurney,

+rebound, +guarding -murphy, psoas, obturator

Lab CT scan of abdomen CBC CMP

DIAGNOSIS???????

Described over 100 years ago Etiology unknown 90% present with right-sided abdominal

pain Males more frequently affected Occurs mainly in 4-5th decade although a

significant proportion of cases described in pediatric population as well

Epstein, L, Lempke, R. Annals of Surgery, 1968

Differential Diagnosis Appendicitis Cholecystitis diverticulitis

Soobrah, R, et al. Case Reports on Medicine, 2010

Incidence estimated to be around 0.1% of all laparotomies performed for acute abdomen

Predisposing factors may include Obesity Trauma Recent abdominal surgery Postprandial vascular congestion Sudden increase in intra-abdominal pressure Hypercoagulability

Soobrah, R, et al. Case Reports on Medicine, 2010

Clinical findings include acute or subacute abdominal pain temperature normal to slightly raised localized tenderness with varying degree of

guarding on right side of abdomen Nausea, vomiting, anorexia and diarrhea are

rare WBC and CRP may be elevated

CT or ultrasound can make diagnosis Management either conservative or surgical

Soobrah, R, et al. Case Reports on Medicine, 2010

Oncology

20 yo WF presents to clinic for lump on side of trunk

Unsure how long it has been there, feels hard to touch, slightly painful, not red

No other complaints

Exam Vitals BP 104/76, P 68, T 97.2, wt. 130 lbs Right chest – 1cm smooth somewhat firm

mobile mass overlying right lateral lowest rib

nontender

Exam Vitals BP 104/76, P 68, T 97.2, wt. 130 lbs Right chest – 1cm smooth somewhat firm

mobile mass overlying right lateral lowest rib

nontender Labs

CXR with right rib views

F/U 1 week later CXR with rib views – negative States lump is still there but not painful

anymore

Exam 10th rib – soft tissue mass, firm, mobile

over top of rib Plan?

3 months later Returns to clinic for recheck of cyst on

right side States has doubled in size in last 4 days Now very painful, even without

palpation, kept awake last night Denies fevers, weight changes, cold

symptoms, N/V/D

Exam Vitals BP102/70, P 68, T 97.6, wt. 131 Right rib cage – 2inch x 2inch round, firm

fixed, raised lesion extending from rib along midaxillary line, no erythema, nontender

Remainder of exam - WNL

Exam Vitals BP102/70, P 68, T 97.6, wt. 131 Right rib cage – 2inch x 2inch round, firm fixed, raised

lesion extending from rib along midaxillary line, no erythema, nontender

Remainder of exam - WNL Labs

MRI CBC LDH ESR Uric Acid

DIAGNOSIS???

Highly malignant tumor occurring in adolescents and young adults ages 10-25

Can develop in almost any bone or soft tissue but most common in pelvis, axial skeleton, and femur

Overt metastatic disease present in less than 25% at time of diagnosis but assumed present due to 80-90% relapse rate if treated locally

Typically present with pain or swelling of a few weeks or months of duration

Aggravated by exercise and worse at night Fever, fatigue, weight loss, or anemia are

present in 10-20% of casesClark, et all. NEJM, 2005

Labwork CBC CMP LDH

Imaging Radiographs CT scan

DeLaney, et al. UpToDate, 2013.

Differential Diagnosis Subacute osteomyelitis Eosinophilic granuloma Giant cell tumor Osteosarcoma Neuroblastoma Acute leukemia Fibrous histiocytoma Primary lymphoma of bone

DeLaney, et al. UpToDate, 2013

Prognostic Factors Disease extent Tumor site and size Response to therapy Age Molecular findings

DeLaney, et al. UpToDate, 2013

Cardiology

21 yo HF presents to clinic for pain and numbness in left hand

Seen by ortho over recent break and diagnosed with ulnar nerve issue and given course of steroids that has completed and Lyrica

Problem initially started about 1 month ago Left wrist and hand intermittently turn

bluish in color and cold. Happens when goes outside but can happen anytime

Very painful, denies burning sensation

Exam Vitals BP 110/80, P 72, T 98.3 Patient is tearful CV

Allen test positive, refill ulnar artery 15 sec, radial artery 10 sec hand is cool to touch with pallor Heart RRR, no murmurs

MSK Decreased grip strength left hand with reduction in wrist ROM due

to pain FROM of neck with no change in pain with neck extended and

turned to left No change in pain with shoulder movement

Neuro Tinels and Phalens positive left hand

Exam Vitals BP 110/80, P 72, T 98.3 Patient is tearful CV

Allen test positive, refill ulnar artery 15 sec, radial artery 10 sec hand is cool to touch with pallor Heart RRR, no murmurs

MSK Decreased grip strength left hand with reduction in wrist ROM due to pain FROM of neck with no change in pain with neck extended and turned to left No change in pain with shoulder movement

Neuro Tinels and Phalens positive left hand

Labs Dopplar studies CXR

Dopplar studies No arterial flow seen in left fingers.

Findings raise concern for vasospasm. Small vessel disease or emboli considered less likely

Upper extremity WNL CXR

Hypoplastic left first rib with thickened anterior left second rib

Dopplar studies No arterial flow seen in left fingers. Findings raise

concern for vasospasm. Small vessel disease or emboli considered less likely

Upper extremity WNL CXR

Hypoplastic left first rib with thickened anterior left second rib

Labwork ANA, ESR, CRP, RA factor, phospholipid antibiodies,

CBC, PT, PTT, lupus Plan

Norvasc for vasospasm and vicodin for pain

F/U 3 days later Norvasc is helpful, pain medicine

somewhat helpful, keeping hand warm Complains of dizziness Labwork negative except for elevated

CRP

Exam Vitals – BP 112/80, P 88 Left hand – Pulse palpable, hand is cool

compared to right but not cold, no pallor

Exam Vitals – BP 112/80, P 88 Left hand – Pulse palpable, hand is cool

compared to right but not cold, no pallor Plan

Increase norvasc Referral to vascular

DIAGNOSIS?????

Refers to a constellation of signs and symptoms that arise from compression of the neurovascular bundle by various structures in the area just above the first rib and behind the clavicle

Neurogenic, Venous, or Arterial Anatomy

Scalene triangle and first rib

Goshima, White. UpToDate, 2013.

Pathogenesis Anomalous ribs Muscular anomalies Injury

Clinical Exam Adson’s test – of little clinical value Wright’s test Allen test Hand wasting Arterial – pain, pallor, paresthesia, and coldness

Pulses, bruits

Goshima, White. UpToDate. 2013

Differential Diagnosis Neurogenic Vascular Raynouds phenomenon Shoulder injury

Goshima, White. UpToDate, 2013.

Imaging Radiographs Duplex ultrasound CT/MRI

Surgery

Goshima, White. UpToDate, 2013.

Gynecology

27 yo WF presents to clinic complaining of weight gain over past 6 months

Complains of abdominal distension and occasional side pains

Irregular periods Denies sexual activity PMH significant for PCOS, taking metformin FMH significant for ovarian CA and fibroid

tumors

Exam Vitals – BP 176/88, P 76, T 97.6, wt. 257lbs Anxious appearing Abdomen – firm, BS present, non tender Gyne – unable to discernably palpate

uterus or ovaries due to large mass

Exam Vitals – BP 176/88, P 76, T 97.6, wt. 257lbs Anxious appearing Abdomen – firm, BS present, non tender Gyne – unable to discernably palpate uterus

or ovaries due to large mass Labwork

Pregnancy test – negative CBC, CMP, ESR, CRP sonogram

Labwork CRP – 1.97 CBC, ESR, CMP - WNL

Imaging Sonogram – large cystic mass occupying the

abdominal and pelvic cavity extending from the epigastric to the pubic symphysis. Recommend CT

CT scan – 24 x 34 x 36 cm ovarian cyst

DIANGOSIS???

Adnexal mass may be found in females of all ages

Prevalence in women age 25-40 is around7.8%

Risk of malignancy is higher in prepubescent or postmenopausal females

Hoffmann. UpToDate, 2013.

Differential Diagnosis Physiologic/functional cysts Polycystic ovary syndrome Pregnancy related etiology Inflammatory Benign ovarian neoplasm Malignant ovarian neoplasm

Hoffmann, UpToDate, 2013.

Ovarian neoplasm arise from surface epithelium, germ cells, and sex-cord-stromal tissue

Persist unless excised Most common benign ovarian masses

Serous or mucinous cystadenoma Endometrioma Mature cystic teratoma

Hoffmann. UpToDate, 2013.

Genetics

19 yo WF Div. I softball player presents to training room with repeated cramping

Cramping occurs irregardless of heat or hydration status

Occurs predominantly in right arm, but does occur in left arm occasionally and bilateral thighs and calves as well

Diagnosed with rhabdomyolysis last year at community college

Exam Vitals Well appearing female CV – RRR, no murmurs MSK - WNL

Exam Vitals Well appearing female CV – RRR, no murmurs MSK - WNL

Labs CMP, CK, UA, TSH

CK – 4254 CBC – WNL UA – unremarkable CMP – WNL

DIFFERENTIAL???

CK ranges from 101-9131 Muscle biopsy

Histology showed myophosphorylase stain with large number of markedly pale fibers with no staining and peripheral fibers normally staining

Deficiency of phosphofructokinase activity

DIAGNOSIS?????

Differential Diagnosis Rhabdomyolysis Polymyositis Electrolyte abnormalities Trauma Infection Drug Use

A number of inborn errors of glycogen metabolism

Major manifestations of disorders of glycogen metabolism affecting muscle are muscle cramps, exercise intolerance and easy fatigability, and progressive weakness

Focus on Type V – McArdle’s syndrome

Darras, Craigen. UpToDate, 2013

Autosomal recessive Presents in adolescence or early

adulthood with exercise intolerance, fatigue, myalgia, cramps, myoglobinuria, poor endurance, muscle swelling, and fixed weakness

Forearm muscle exercise testing Muscle biopsy with biochemical or

histochemical analysisDarras, Craigen. UpToDate, 2013

Sports Medicine

20 yo AAM soccer player presents after game with right knee pain

Slide tackling another player felt like left knee twisted

Tenderness over lateral aspect of knee with slight increase in opening with varus stress compared to left

Diagnosed with grade 1 LCL sprain and told to ice

Presents to training room following day States knee is feeling much better but

now having trouble lifting his right foot Put ice on after the game and then

went to sign autographs after kids clinic. Left ice on leg for at least 45 minutes

Denies pain in leg

Exam General – NAD, patient of slight build Right leg – no swelling, erythema, warmth, or

tenderness to palpation. Patient has difficulty differentiating sharp and dull sensation over lateral aspect of leg

Right knee – No tenderness to LCL, still slight opening with varus stress

Right foot – unable to dorsiflex foot, weakness in eversion, remainder of movement intact

DIAGNOSIS?????

Most frequent site of injury is just below knee as nerve wraps around lateral aspect of the fibula

Typical presentation is acute foot drop, parathesias over dorsum of foot and lateral shin

Exam shows weakness in dorsiflexion and eversion, sensory deficit at dorsum of foot and lateral shin

Rutkove, UpToDate, 2013

No effective treatment Those presenting with complete

lesions, while mildly preserved strength recover fully

Rutkove, UpToDate, 2013

Psychiatry

Faculty member calls counseling center Concern for student who just finished a

test Reports no previous issues with this

student States “I can’t describe it. I will bring

you the test.”

Bladt, O, et al. Mucinous Cystadenoma of the Ovary. JBR-BTR, 2004. Clark, et al. Soft-Tissue Sarcomas in Adults. NEJM, 2005 Darras, Craigen. Muscle phosphorylase deficiency (glycogen storage

disease V, McArdle disease) UpToDate, 2013 DeLaney, et al. Clinical presentation, staging, and prognostic factors

of the Ewing sarcoma family of tumors. UpToDate, 2013 Epstein, L, Lempke, R. Primary Idiopathic Segmental Infraction of the

Greater Omentum. Annals of Surgery, 1968 Hoffmann. Differential Diagnosis of adnexal mass. UpToDate, 2013. Goshima, White. Overview of thoracic outlet syndrome. UpToDate,

2013 Richards, M. Kikuchi’s disease. UpToDate 2013 Rutkove, Overview of lower extremity peripheral nerve syndromes.

UpToDate, 2013 Soobrah, R, et al. Conservative Management of Segmental Infarction

of the Greater Omentum: a Case Report and Review of the Literature.Case Reports on Medicine, 2010