Testicular torsion

Vignette says a 21 year old male presents to the emergency department with a sudden onset of severe testicular pain, that started 6 hours ago while playing basketball; The pain is sudden in onset, severe in intensity and localized to the right testicle; He also reports nausea but no vomiting; Genital examination shows swollen, erythematous and tender right sided scrotum; Cremasteric reflex is absent; Vital signs show blood pressure of 110/80 mm of Hg, pulse rate of 88 bpm, respiratory rate of 16 breaths/min, oxygen saturation of 98% in RA and temperature of 96.7F; He has no significant medical or surgical history; Doppler ultrasonography shows absence of testicular blood flow; Diagnosis?

Diagnosis is testicular torsion.

Presents with acute onset severe testicular pain along with swollen, erythematous scrotum; Associated with congenital inadequate fixation of testis to tunica vaginalis → horizontal positioning of testes (“bell clapper” deformity); Prehn sign is negative (i.e. failure to relieve pain upon lifting the scrotum) and cremasteric reflex is absent (i.e. failure of the scrotal skin to retract upon palpation of the medial thigh).

Diagnosis:-

1. Doppler ultrasonography shows absence of testicular blood flow.

Management:-

1. Surgical detorsion and fixation (orchiopexy) within 6 hours; Manual detorsion (if immediate surgery is not available.

2. Orchiectomy (if testis is not viable).

Osteopetrosis

Vignette says a 7 year old male child presents to pediatrician with chief complaints frequent bone fractures, recurrent infections and visual impairment; His mother also reports that he has had multiple fractures, even with minimal trauma over the past few years; His mother also reports that he has had several episodes of pneumonia and ear infections requiring hospitalizations in the past; Examination shows pale conjunctiva, macrocephaly with frontal bossing and hepatosplenomegaly; Neurological examination shows decreased visual acuity and decreased hearing; Complete blood count (CBC) shows pancytopenia; X-ray shows diffuse osteosclerosis; Bone marrow biopsy shows dense, sclerotic bone with little marrow space; Diagnosis?

Diagnosis is Osteopetrosis.

Osteopetrosis (also known as "marble bone disease"), is a genetic disorder characterized by defective osteoclast function leading to impaired bone resorption and the accumulation of abnormally dense bones.

Pathophysiology:- Deficiency of carbonic anhydrase → failure to resorb bone by osteoclasts (i.e. poor osteoclast function due to type II carbonic anhydrase deficiency). 

Clinical features:- 
1. Thick bones which fracture easily (i.e. pathologic fractures).
2. Vision and hearing impairment.
3. CN deficits and hydrocephalus (due to narrowing of foramen in the brain).
4. Type II RTA (i.e. proximal RTA).
5. Pancytopenia and hepatosplenomegaly (due to bone expansion leading to bone marrow narrowing and extramedullary hematopoiesis).

Diagnosis:- 
1. CBC shows pancytopenia.
2. X-ray shows diffuse osteosclerosis (aka “marble bone disease”). 
3. Elevated tartrate-resistant acid phosphatase (TRAP). 
4. Genetic testing shows mutation in the CLCN7 or TCIRG1 gene.
5. Bone marrow biopsy shows dense, sclerotic bone with little marrow space.

Management:- 
1. Supportive measures include pain management, physical therapy, and management of recurrent infections.
2. Calcium and vitamin D supplementation.
3. Erythropoietin or blood transfusions for anemia.
4. IFN-gamma (activates osteoclasts). 
5. Bone marrow transplantation is the only curative treatment.

Spontaneous bacterial peritonitis

Vignette says a 55 year old male with a history of cirrhosis and ascites due to chronic alcohol use presents to the emergency department with chief complaints of diffuse abdominal pain, vomiting, and a mild low grade fever over the past two days; He also reports of fatigue and increasing confusion; Vital signs show blood pressure of 100/60 mm of Hg, pulse rate of 108 bpm, respiratory rate of 18 breaths/min, oxygen saturation of 92% in RA and temperature of 100.2 F; Abdominal examination shows distended abdomen with shifting dullness, mild diffuse tenderness, and hypoactive bowel sounds on auscultation; CBC shows WBC count of 14,000 cells/mm3, serum creatinine of 1.8 mg/dL (normal range is 0.7mg/dL-1.3mg/dL), serum albumin of 2.1g/dL (normal range is 3.5-5.5 g/dL); Paracentesis with ascitic fluid absolute neutrophil count is 380 cells/mm3; Diagnosis?

Diagnosis is Spontaneous bacterial peritonitis (SBP).

Spontaneous bacterial peritonitis (SBP) is defined as the infection of the ascitic fluid.

Presents with fever, diffuse abdominal pain in patients with liver cirrhosis along with ascitic fluid absolute neutrophil count (ANC) > 250 cells/mm3.

Etiologic agents are Escherichia coli (most common), Klebsiella, Streptococcus pneumoniae.

Diagnosis:-

1. Paracentesis with ascitic fluid absolute neutrophil count (ANC) > 250 cells/mm3.

2. Gram staining and culture of the ascitic fluid.

Management:-

1. 3rd generation cephalosporins (e.g. cefotaxime, ceftriaxone).

2. Albumin infusion to prevent kidney failure.

3. Prophylactic ciprofloxacin or trimethoprim/sulfamethoxazole is used to prevent SBP if ascitic fluid albumin is low. 

Normal pressure hydrocephalus (NPH)

Vignette says a 75 year old male with a history of hypertension and diabetes presents to the neurology clinic with complaints of difficulty walking, memory problems and urinary incontinence over the past year; His wife notes that he has been more forgetful recently, often misplacing items and repeating conversations, although he still recognizes family members and can performs daily tasks; He wife also notes that recently, he started urinating on himself frequently before reaching the bathroom; The patient exhibits a slow, broad-based gait with difficulty initiating step movement, and a tendency to fall forward (also known as "magnetic gait"); There are no signs of increased intracranial pressure (e.g. headache, vomiting, papilledema); Examination shows normal deep tendon reflexes with no focal neurologic deficits; CT scan of head shows enlargement of the lateral ventricles without significant cortical atrophy.; Lumbar puncture shows normal opening pressure; Diagnosis?

Diagnosis is normal pressure hydrocephalus. 

Normal pressure hydrocephalus (NPH) is a chronic dilatation of the cerebral ventricles with a normal lumbar puncture opening pressure.

Pathophysiology:- Failure of reabsorption of CSF by the arachnoid granulations.

Presents with urinary incontinence, ataxia, dementia (i.e. "wet, wobbly, and wacky").

The patient shows significant improvement in symptoms after a CSF removal of about 30-50 mL.

Diagnosis:-
1. Lumbar puncture shows normal opening pressure with large volume lumbar tap. 
2. CT scan of head shows enlargement of the lateral ventricles without significant cortical atrophy.
3. MRI shows ventricular enlargement disproportionate to cortical atrophy.

Management:- Ventriculoperitoneal (VP) shunt.

Pneumocystis jirovecii

Vignette says a 33 year old male with a known history of HIV presents to the emergency department with a 7 days history of progressive shortness of breath, dry cough and fever; His CD4 count is 90 cells/μL despite being on antiretroviral therapy (ART); Vital signs show blood pressure of 110/70 mm of Hg, pulse rate of 108 bpm, respiratory rate of 22 breaths/min, oxygen saturation of 92% in RA and temperature of 100.9 F;  Lung auscultation reveals bilateral crackles; There is no evidence of peripheral edema or lymphadenopathy; CBC shows white blood cell count of 6,000 cells/mm3 with a mild lymphopenia; Chest X-ray shows bilateral diffuse reticulonodular infiltrates and CT scan of the chest shows ground-glass opacities, especially in the perihilar regions; ABG analysis shows pH of 7.48, PaCO2 of 30 mmHg, PaO2 of 50 mmHg and HCO3- of 22mEq/L; Microscopic examination of bronchoalveolar lavage (BAL) with silver stain shows disc shaped yeast; Diagnosis?

Diagnosis is Pneumocystis jirovecii.

Pneumocystis jirovecii pneumonia is caused by Pneumocystis jirovecii.

Etiologies:-

1. AIDS (i.e. CD4 < 200 cells/μL)

2. Immunosuppressive medications (e.g. chronic glucocorticoids, immunosuppressant agents)

Presents with fever, dyspnea and dry cough.

Diagnosis:-

1. Chest x-ray shows diffuse bilateral reticulonodular infiltrates.

2. LDH is elevated.

3. Microscopic examination of BAL with silver stain shows disc shaped yeast.

Management:-

1. Trimethoprim-sulfamethoxazole + Steroids; Indications for steroids in Pneumocystis

pneumonia is A-a gradient >35 mm Hg, or PaO2 <70, or SaO2 <92% in RA.

2. ART therapy.

Patients with AIDS (i.e. CD4 <200 cells/μL) and those on chronic glucocorticoid therapy

generally receive primary prophylaxis against Pneumocystis jirovecii pneumonia with

trimethoprim-sulfamethoxazole.

Guillain-Barré Syndrome (GBS)

Vignette says a 42 year old male presents to the emergency department with a progressive weakness in his both legs along with tingling sensation in his feet over the past 4 days; He also suggests that the weakness has gradually spread upwards in past 24 hours, now affecting his arms and causing difficulty in swallowing; He states that he had developed bloody diarrhea 2 weeks back after consumption of poultry products; On examination he has bilateral lower limb weakness with MRC grade of 3/5 in both limbs along with absent deep tendon reflexes in both knees and ankles; CSF shows elevated protein with normal cell count; Electrophysiologic studies show prolonged latency, decreased motor nerve conduction velocities and amplitude; MRI of the brain and spinal cord is normal; Serology shows Campylobacter jejuni infection; Diagnosis?

Diagnosis is GBS following campylobacter infection.

Guillain-Barré Syndrome (GBS) is an autoimmune demyelinating disorder of peripheral nervous system that usually following gastrointestinal or respiratory infections; Molecular mimicry between microbe and nerve antigens; Commonly associated with Campylobacter jejuni, Mycoplasma pneumoniae, cytomegalovirus, Epstein Barr, influenza A, Zika, HIV.

Presents with bilateral symmetric progressive, ascending flaccid paralysis or weakness of limbs, decreased deep tendon reflexes and distal numbness or dysesthesias (i.e. feeling of pins and needles) of extremities.

Diagnosis:-
1. CSF shows elevated protein with normal cell count (i.e. albuminocytologic dissociation).
2. Electrophysiologic studies (EMG/NCV) show demyelination in peripheral nerves (i.e. prolonged latency, decreased motor nerve conduction velocities and amplitude).
3. MRI of the brain and spinal cord is usually normal or shows enhancement of anterior nerve roots/cauda equina.
4. Spirometry (i.e. FVC) is used to assess pulmonary function. 

Treatment:-
1. Intravenous immunoglobulin (i.e. IVIG) or Plasmapheresis is the mainstay of treatment. 
2. Supportive measures like DVT prophylaxis, Respiratory monitoring and Physical therapy.

Figure:- Guillain-Barré Syndrome

Third degree heart block

Vignette says a 60 year old male presents to the emergency department with complaints of fatigue, dizziness, lightheadedness and occasional near syncopal episodes over the past few days; He also complains of intermittent chest pain and shortness of breath on exertion since the past few days; He has a history of hypertension and takes losartan daily; On examination JVP shows cannon a waves; Vital signs show pulse rate of 35 beats/min which is slow and regular in nature, blood pressure of 110/70 mm of Hg, respiratory rate of 16 breaths/min, oxygen saturation of 96% in RA and temperature of 97.2 F; ECG shows wide QRS complex with no relation between P waves and QRS complexes however R-R intervals and P-P intervals are constant; Diagnosis?

Diagnosis is Third degree heart block.

Third degree heart block is characterized by a complete loss of communication between atria and ventricles (i.e. no impulse from atria passes through the AV node to the ventricles); JVP shows cannon A waves; ECG shows a wide QRS complex (ventricular escape rhythm) or narrow QRS complex (junctional escape rhythm) with no relation between P waves and QRS complexes however R-R intervals & P-P intervals are constant.

Causes:-

1. Idiopathic fibrosis or degeneration of the conducting system (i.e. Lev's disease)

2. Autoimmune disorders (e.g. SLE, systemic sclerosis)

3. Inflammatory conditions (e.g. myocarditis, Lyme disease, acute rheumatic fever)

4. Infiltrative myocardial disease (e.g. hemochromatosis, sarcoidosis, amyloidosis)

5. Electrolyte imbalance (e.g. hyperkalemia)

6. AV nodal blocking agents (e.g. beta-blockers, non-dihydropyridine calcium channel blockers, digitalis, adenosine, or amiodarone)

7. Anterior wall MI (due to extensive necrosis of the septum and conduction tissue i.e. His-Purkinje system)

8. Inferior wall MI (since right coronary artery supplies the AV node (i.e. right coronary dominant))

Presents with generalized fatigue, tiredness, lightheadedness, dizziness, chest pain, shortness of breath, near syncope and syncope. 3rd degree heart block is associated with polyuria (AV dissociation occurs as there is complete loss of communication between atria and ventricles in 3rd degree heart loss; this causes huge stretch in atrium leading to release of ANP which subsequently causes diuresis and polyuria).

Diagnosis:- 

1. ECG shows a wide QRS complex (ventricular escape rhythm) or narrow QRS complex (junctional escape rhythm) with no relation between P waves and QRS complexes however R-R intervals & P-P intervals are constant.

2. Electrophysiology study.

Treatment:-

1. Temporary pacemakers (i.e. transcutaneous or transvenous pacing to increase the ventricular rate). 

2. Insertion of permanent pacemaker (PPM).

3. Treat the underlying cause and stop the offending agents.

Figure:- ECG showing 3rd degree heart block

Cardiac tamponade

Vignette says a 38 year old male with a history of stage 5 chronic kidney disease on maintenance dialysis presents to the emergency department with chief complaints of progressive shortness of breath, chest discomfort and fatigue over the past few days; He has a history of hypertension, diabetes mellitus and chronic kidney disease and takes medications for hypertension, diabetes and dyslipidemia; Vital signs show blood pressure of 90/60 mm of Hg, pulse rate of 120 bpm, respiratory rate of 22 breaths/min, oxygen saturation of 92% in RA and temperature of 97.2 F; His pulses are thready, weak and becomes even fainter during inspiration; Examination shows jugular venous distension, muffled heart sounds and cool extremities; ECG shows electrical alternans, low voltage QRS complexes; Echocardiography shows pericardial effusion with right ventricular collapse during diastole; Diagnosis?

Diagnosis is Cardiac tamponade.

Cardiac tamponade is a medical emergency condition characterized by excessive accumulation of fluids in the pericardial space restricting the filling of cardiac chambers and subsequent low cardiac output and shock.

Etiologies:-

1. Trauma (penetrating > blunt) 

2. Malignancy (e.g. lung, breast, lymphoma) 

3. Uremia (ESRD) 

4. Pericarditis 

5. Post-MI (especially ventricular wall rupture, Dressler's syndrome) 

6. Iatrogenic (e.g. catheter placement, cardiac surgery)

Pathophysiology:- Increased pericardial pressure → restricts ventricular filling → ↓ preload → ↓ stroke volume → ↓ CO → shock.

Clinical features:-

1. Beck’s triad:- Muffled heart sounds, jugular venous distension and hypotension.

2. Reflex tachycardia, cool extremities, tachypnea with clear lungs.

3. Pulsus paradoxus (i.e. decreased SBP >10 mmHg during inspiration).

Diagnosis:-

1. ECG shows electrical alternans, low voltage QRS complexes.

2. Chest x-ray shows enlarged cardiac silhouette (i.e. water bottle sign).

3. Echocardiography shows pericardial effusion, diastolic collapse of the right atrium and right ventricle, plethoric inferior vena cava (i.e. lack of inspiratory collapse) and impaired ventricular filling.

4. Cardiac catheterization shows elevation and equalization of intra pericardial and diastolic pressures in all chambers of the heart; shows elevated JVP with loss of the x descent.

Treatment:- Immediate pericardiocentesis.

Prinzmetal angina

Vignette says a 20 year old female presents to the cardiology clinic for evaluation of chest pain; She is experiencing increased episodes of central chest pain which is non exertional, self-limiting in nature that typically lasts for brief period (5-15 minutes); The pain is sudden in onset, substernal, tight, and crushing in nature, severe in intensity with radiation to the left arm, jaw and neck associated with nausea, vomiting and diaphoresis; She was diagnosed with Raynaud disease 1 year back but is not under any medications; She doesn't smoke cigarettes but drinks alcohol occasionally; Vital signs are normal; ECG shows ST-segment elevation in leads II, III and aVF during ergonovine test; Coronary catheterization shows coronary vasospasm with no atherosclerotic occlusions; Diagnosis?

Diagnosis is Prinzmetal angina (i.e. variant angina).

Prinzmetal angina occurs due to transient coronary artery vasospasm, leading to reduced blood flow and ischemia in the heart muscle and is characterized by chest pain at rest that is responsive to nitrates with ECG showing transient ST-segment elevation present during chest pain. 

It is characterized by the triad of:- 

1. Chest pain at rest, typically self-limiting and responsive to nitrates. 

2. ECG showing transient ST-segment elevation during chest pain.

3. Coronary catheterization showing coronary vasospasm with no or minimal atherosclerotic occlusions.

Diagnosis:-

1. ECG shows ST-segment elevation during pain episodes.

2. Cardiac biomarkers (e.g. CK-MB, Troponins) are negative.

3. Coronary angiography shows provocative coronary vasospasm (i.e. ergonovine, acetylcholine) with no or minimal atherosclerotic occlusions.

Management:- 

1. Stop the offending agents (e.g. smoking, cocaine, marijuana, triptans).

2. Medical therapy includes nitrates, and CCB's (e.g. verapamil, diltiazem, amlodipine). 

Beta blockers (i.e. nonselective) are contraindicated as they worsen vasospasm.

Takotsubo cardiomyopathy

Vignette says a 64 year old female with a history of well controlled hypertension presents to the emergency department with chief complaints of sudden onset chest pain and shortness of breath for 1 hour; She reports that she has been under a lot of stress recently as her husband is diagnosed with terminal stage lung cancer; Vital signs show blood pressure of 100/60 mm of Hg, pulse rate of 106 bpm, respiratory rate of 18 breaths/min, oxygen saturation of 92% in RA and temperature of 98.9 F; Laboratory studies show slight elevation of cardiac troponins; ECG shows ST segment elevations; Echocardiography shows apical ballooning with hypercontractile basal segments; Coronary angiography shows no evidence of obstructive coronary artery disease; Diagnosis?

Diagnosis is Takotsubo cardiomyopathy. 

Takotsubo cardiomyopathy is characterized by transient wall motion abnormalities of the left ventricular apex and mid ventricle in the absence of any angiographically significant CAD that leads to transient left ventricular systolic and diastolic dysfunction (i.e. Takotsubo cardiomyopathy is a transient left ventricular systolic and diastolic dysfunction that results in apical akinesis, hypokinesis or dyskinesis with basal segments hypercontractility giving the classic “takotsubo” (octopus trap) appearance on the echocardiography); It is often precipitated by an intense physical or emotional stress and is commonly present in postmenopausal women.

Pathophysiology:- Intense physical or emotional stress leads to catecholamine surge that leads to excessive coronary vasoconstriction and transient ischemia which ultimately results in myocardial stunning (i.e. contractile dysfunction).

Presents with acute onset substernal chest pain, SOB, syncope, arrhythmias, cardiogenic shock and sudden cardiac death.

Mayo Clinic diagnostic criteria for takotsubo includes:- 
1. Absence of coronary artery disease on angiography.
2. Transient akinesis, hypokinesis or dyskinesis of the left apical and mid-ventricular segments extending beyond a single epicardial vascular distribution.
3. New electrocardiographic abnormalities (either ST-segment elevation and/or T wave inversion).
4. Modest elevation of troponin levels.
5. Absence of all of the following (i.e. recent significant head trauma, intracranial bleeding, pheochromocytoma, obstructive epicardial CAD, myocarditis, hypertrophic cardiomyopathy).

Diagnosis:- 
1. Laboratory shows slight elevation of cardiac biomarkers (i.e. CK-MB, troponins). 
2. ECG shows ST elevations/T wave inversions. 
3. Echocardiography shows apical ballooning (due to akinesis, hypokinesis or dyskinesis of the mid to apical segments and basal segments hypercontractility), decreased LVEF and LVOT obstruction. 
4. Coronary angiography shows no evidence of coronary obstruction.
5. Cardiac MRI.

Treatment:- 
1. Hemodynamically stable patients are treated with diuretics, ACE inhibitors, Beta blockers and anticoagulants (if LV thrombus present). 
This transient left ventricular apical ballooning syndrome often resolves within a few weeks.

Pheochromocytoma

Vignette says 30 years old male with a history of uncontrolled hypertension presents to the emergency department with chief complaints of  palpitations, headache and profuse sweating over the past few months; He has a history of hypertension for which he takes amlodipine and losartan since 18 months; He doesn’t smoke but drinks alcohol occasionally; Vital signs show blood pressure of 160/100 mm of Hg, pulse rate of  140 bpm, respiratory rate of 18 breaths/min, oxygen saturation of 96% in RA and temperature of 98.7 F; Laboratory studies show increased 24 hours urinary catecholamines and its metabolites metanephrines (i.e. vanillyl mandelic acid, homovanillic acid); ECG shows sinus tachycardia with no other abnormalities; CECT of the abdomen and pelvis shows a well-defined mass arising from the right adrenal gland; Diagnosis?

Diagnosis is pheochromocytoma.

Pheochromocytoma is a rare catecholamine secreting tumor, which are derived from chromaffin cells (arise from neural crest) situated within adrenal medulla or extra adrenal paraganglioma; Pheochromocytoma is associated with multiple endocrine neoplasia type 2a (MEN 2a), multiple endocrine neoplasia type 2b (MEN 2b), von Hippel Lindau syndrome (VHL), neurofibromatosis type I (NF 1), hereditary paraganglioma syndrome; Approximately 0. 1 to 1 % of total cases of hypertension is due to pheochromocytoma. 

Types:- 
1. Adrenal pheochromocytomas:- The MC site in adrenal medulla; NE: E ratio is high as 20:1 
2. Extra adrenal pheochromocytomas (Paragangliomas):- The common sites are along the paraaortic sympathetic chain, within organs of zuckerkandl, along the sympathetic chain in the neck and mediastinum, in the wall of the urinary bladder; The extra adrenal pheochromocytomas secrete NE exclusively.

Pheochromocytoma is clinical manifested with signs and symptoms like paroxysmal hypertension, headache, diaphoresis, palpitations, pallor, dyspnea and anxiety attacks from excessive catecholamines (i.e. mainly norepinephrine and epinephrine) secreted either intermittently or continuously by chromaffin cells of the tumor; The paroxysmal attacks are generally precipitated by exertion, trauma, stress, induction of anesthesia, drugs (metoclopramide, steroids, TCA’s), contrast dye.
Presents with the triad of headache, diaphoresis, and palpitations with sustained or paroxysmal hypertension. 

Diagnosis:- 
1. Increased catecholamines and its metabolites metanephrines (e.g. vanillyl mandelic acid, homovanillic acid) in urine and plasma; 24 hour urinary catecholamines and urinary metanephrines is used for the screening of pheochromocytoma. 
2. Increased plasma fractionated metanephrines level is the gold standard method for the diagnosis of pheochromocytoma.
3. CT scan / MRI shows a well-defined mass arising from the adrenal gland.
4. Somatostatin receptor scintigraphy, to rule out paragangliomas.

Management:- 
1.Medical therapy includes selective alpha-1 blockers (prazosin, terazosin) or nonselective alpha blockers (phenoxybenzamine) and non-selective beta blockers (Propranolol) or selective beta blockers (Atenolol, Metoprolol); Beta blockers should be given only after the complete alpha blockade to prevent hypertensive crisis.
2. Surgical resection of tumor is the mainstay of treatment.