Jessica Higgs, MD Bradley University ACHA Annual Meeting Boston, June 1, 2013 MEDICAL GRAND ROUNDS LEARNING OBJECTIVES 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 CASE 1 VISIT #1 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 VISIT #1 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 VISIT #2 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 VISIT #2 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 VISIT #2 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 VISIT #3 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 VISIT #3 Exam Vitals – P 72, T97, R 14 Left axilla – 5mm x 2mm firm mobile lesion Shotty lymph nodes anterior cervical area and right groin VISIT #3 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 VISIT #4 F/U 2 days later for labwork CRP – 1.43 LDH – 853 VISIT #4 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???? KIKUCHI DISEASE KIKUCHI DISEASE 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 KIKUCHI DISEASE Differential diagnosis Lymphoma Tuberculous adenitis Lymphogranuloma venereum Kawasaki disease Richards, M. Kikuchi’s disease. UpToDate 2013 KIKUCHI DISEASE 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 KIKUCHI DISEASE 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 CASE 2 VISIT #1 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 VISIT #1 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 VISIT #1 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 VISIT #2 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 VISIT #2 Exam Vitals – BP 122/80, T 98.3, P 96, R 12 +tenderness right side, +McBurney, +rebound, +guarding Negative murphy, psoas, obturator signs VISIT #2 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??????? SEGMENTAL INFARCTION OF THE GREATER OMENTUM SEGMENTAL INFARCTION 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 SEGMENTAL INFARCTION Differential Diagnosis Appendicitis Cholecystitis diverticulitis Soobrah, R, et al. Case Reports on Medicine, 2010 SEGMENTAL INFARCTION 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 SEGMENTAL INFARCTION 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 CASE 3 VISIT #1 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 VISIT #1 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 VISIT #1 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 VISIT #2 F/U 1 week later CXR with rib views – negative States lump is still there but not painful anymore VISIT #2 Exam 10th rib Plan? rib – soft tissue mass, firm, mobile over top of VISIT #3 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 VISIT #3 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 VISIT #3 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??? EWING SARCOMA EWING SARCOMA 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 1020% of cases Clark, et all. NEJM, 2005 EWING SARCOMA Labwork CBC CMP LDH Imaging Radiographs CT scan DeLaney, et al. UpToDate, 2013. EWING SARCOMA Differential Diagnosis Subacute osteomyelitis Eosinophilic granuloma Giant cell tumor Osteosarcoma Neuroblastoma Acute leukemia Fibrous histiocytoma Primary lymphoma of bone DeLaney, et al. UpToDate, 2013 EWING SARCOMA Prognostic Factors Disease extent Tumor site and size Response to therapy Age Molecular findings DeLaney, et al. UpToDate, 2013 Cardiology CASE 4 VISIT #1 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 VISIT #1 Exam Vitals BP 110/80, P 72, T 98.3 Patient is tearful CV MSK Allen test positive, refill ulnar artery 15 sec, radial artery 10 sec hand is cool to touch with pallor Heart RRR, no murmurs 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 VISIT #1 Exam Vitals BP 110/80, P 72, T 98.3 Patient is tearful CV 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 Allen test positive, refill ulnar artery 15 sec, radial artery 10 sec hand is cool to touch with pallor Heart RRR, no murmurs Tinels and Phalens positive left hand Labs Dopplar studies CXR INTERIM 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 second rib left first rib with thickened anterior left INTERIM Dopplar studies CXR Hypoplastic left first rib with thickened anterior left second rib Labwork No arterial flow seen in left fingers. Findings raise concern for vasospasm. Small vessel disease or emboli considered less likely Upper extremity WNL ANA, ESR, CRP, RA factor, phospholipid antibiodies, CBC, PT, PTT, lupus Plan Norvasc for vasospasm and vicodin for pain VISIT #2 F/U 3 days later Norvasc is helpful, pain medicine somewhat helpful, keeping hand warm Complains of dizziness Labwork negative except for elevated CRP VISIT #2 Exam Vitals – BP 112/80, P 88 Left hand – Pulse palpable, hand is cool compared to right but not cold, no pallor VISIT #2 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????? THORACIC OUTLET SYNDROME THORACIC OUTLET SYNDROME 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. THORACIC OUTLET SYNDROME 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 THORACIC OUTLET SYNDROME Differential Diagnosis Neurogenic Vascular Raynouds phenomenon Shoulder injury Goshima, White. UpToDate, 2013. THORACIC OUTLET SYNDROME Imaging Radiographs Duplex ultrasound CT/MRI Surgery Goshima, White. UpToDate, 2013. Gynecology CASE 5 VISIT #1 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 VISIT #1 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 VISIT #1 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 INTERIM 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??? GIANT CYSTADENOMA MUCINOUS CYSTADENOMA 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. MUCINOUS CYSTADENOMA Differential Diagnosis Physiologic/functional cysts Polycystic ovary syndrome Pregnancy related etiology Inflammatory Benign ovarian neoplasm Malignant ovarian neoplasm Hoffmann, UpToDate, 2013. MUCINOUS CYSTADENOMA 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 CASE 6 VISIT #1 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 VISIT #1 Exam Vitals Well appearing female CV – RRR, no murmurs MSK - WNL VISIT #1 Exam Vitals Well appearing female CV – RRR, no murmurs MSK - WNL Labs CMP, CK, UA, TSH FOLLOW-UP CK – 4254 CBC – WNL UA – unremarkable CMP – WNL DIFFERENTIAL??? FURTHER FOLLOW-UP 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????? GLYCOGEN STORAGE DISORDER GYLCOGEN STORAGE DISORDER Differential Diagnosis Rhabdomyolysis Polymyositis Electrolyte Trauma Infection Drug Use abnormalities GLYCOGEN STORAGE DISORDER 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 MCARDLE’S SYNDROME 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 analysis Darras, Craigen. UpToDate, 2013 Sports Medicine CASE 7 VISIT #1 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 VISIT #2 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 VISIT #2 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????? PERONEAL NERVE INJURY PERONEAL NERVE INJURY 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 PERONEAL NERVE INJURY No effective treatment Those presenting with complete lesions, while mildly preserved strength recover fully Rutkove, UpToDate, 2013 Psychiatry CASE 8 INITIAL CONTACT 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.” DIFFERENTIAL????? PSYCHOTIC BREAK QUESTIONS?? THANK YOU REFERENCES 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