Medical Cases

History: A 30-year-old man presented with an 11-year history of coarse facial features and progressive enlargement of hands and feet. On physical examination, his height was 1.70 m and his weight was 65 kg. Coarse facial features included enlarged frontal and nasal bone, thickened facial and scalp skin including the periorbital area, and thickened lips. His lower jaw shows the classic spacing of teeth. Funduscopic examination revealed the absence of papilloedema. Hands and feet are noted to be enlarged but non-oedematous. What’s the diagnosis?

Answer: Acromegaly is a disorder that results from excess growth hormone (GH) after the growth plates have closed.

Symptoms: The initial symptom is typically enlargement of the hands and feet. There may also be an enlargement of the forehead, jaw, and nose. Other symptoms may include joint pain, thicker skin, deepening of the voice, headaches, and problems with vision. Complications of the disease may include type 2 diabetes, sleep apnea, and high blood pressure.

Cause: Acromegaly is usually caused by the pituitary gland producing excess growth hormone due to a benign pituitary adenoma.

Diagnosis: Measuring insulin-like growth factor I in the blood. After diagnosis MRI of the pituitary is carried out to determine if an adenoma is present. If excess growth hormone is produced during childhood, the result is the condition gigantism rather than acromegaly, and it is characterized by excessive height.

Treatment: Surgery to remove the tumor, radiation therapy, somatostatin analogues or GH receptor antagonists may be used. Radiation therapy may be used if neither surgery nor medications are completely effective.

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History: A 60 yr male k/c/o of HTN, Type2DM, and hyperlipidemia presents to the ER with the first episode of rapid palpitations, sob, and chest discomfort. Physical exam shows an irregularly irregular radial pulse at a rate 130 bpm, BP 110/70 mmHg, and RR 20 bpm. Heart sounds are irregular, but no third or fourth heart sound gallop or murmurs are audible. What’s the diagnosis?

Answer: Acute atrial fibrillation (AF) is a episode of a chaotic and irregular atrial arrhythmia. Prevalence increases progressively with age. AF causes significant morbidity and mortality including palpitations, dyspnea, angina, dizziness or syncope, and features of congestive heart failure, tachycardia-induced cardiomyopathy, stroke, and death. ECG shows absent P waves, presence of fibrillatory waves, and irregularly irregular QRS complexes. Treatment in hemodynamically unstable patient is DC cardioversion. In stable patient do rate control with beta-blocker and/or calcium-channel blocker +/- anticoagulation +/- electrical cardioversion or chemical cardioversion with drugs. If the precise timing of the onset of AF is unclear, a transesophageal echocardiogram must be performed to exclude left atrial clots before cardioversion.

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Question: Which of the following tests can be used to make the definitive diagnosis of this disease?

1.  Biopsy showing Donovan bodies
2.  Giemsa stain showing intracytoplasmic inclusion bodies
3. Potassium hydroxide preparation (KOH prep)
4.  Serology
5. Tzanck smear

Answer: This picture shows lesions of Molluscum contagiosum. These lesions may occur in single or multiple lesions. It is spread skin-to-skin contact and is most common in infants, sexually active adults, and immunocompromised individuals. A Giemsa stain of the keratotic core will show intracytoplasmic inclusion bodies or “molluscum bodies.” These lesions usually resolve in 6–24 months without specific treatment. Tape may be applied after showers to prevent friction and spread of the lesions. Other treatments that could be prescribed by a dermatologist include topical cantharidin (blister beetle fluid) applied in the office or imiquimod (Aldara) every day three to five times per week at home to speed the resolution of the lesions. Donovan bodies are seen with granuloma inguinale. KOH prep is used to help visualize the hyphae seen in fungal etiologies of skin lesions. Serology is used for syphilis diagnosis. Tzanck smear is used to help diagnose herpes lesions.

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History: A 19-year-old male presents with a rapid onset of shortness of breath. There is no history of trauma or chronic medical disease. The patient has no risk factors for thromboembolic disease. The following x-ray is consistent with which of the following conditions?

1. Atypical pneumonia
2. Spontaneous pneumothorax
3. Metabolic bone disease
4. Hampton hump

Anwer: The x-ray demonstrates a spontaneous pneumothorax on the right with a small hemothorax in an otherwise healthy young individual. Management of primary pneumothorax includes aspiration of pleural air either by needle thoracostomy or small catheter with or without Heimlich valve. A Hampton hump is a classic sign of pulmonary embolism with pulmonary infarction that is described as a pleural-based triangular wedge with base along the pleural surface and the top of the triangle pointing toward hilum. This is opposed to Westermark sign that is a sign of vascular oligemia distal to the location of a pulmonary embolism and is described as dilation of proximal pulmonary arteries and collapse of distal vessels. An atypical pneumonia would have a different radiographic appearance including patchy or subsegmental infiltrate. There is no evidence of cortical irregularities or displaced rib fractures on this chest radiograph and there is no history of trauma. Metabolic bone disease would likely manifest with some bony lesion either as lytic lesions or osteopenia.

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History: A 65 yr old diabetic woman complains of 1 week of lower anterior molar pain and now with 24 hours of sore throat, difficulty swallowing, and sweats. On physical exam, she is anxious and having difficulty breathing. She has significant trismus and so the pharynx is not visualized. Her tongue appears elevated and she is unable to protrude it beyond her teeth, and the sublingual space is indurated and elevated. What is the next best course of action?

1.  Administer broad-spectrum antibiotics and drain the submandibular abscess.
2. Perform a cricothyroidotomy, administer intravenous fluoroquinolone, order a CT scan, and emergent head and neck surgery consultation.
3. Perform rapid sequence endotracheal intubation, administer intravenous ampicillin–sulbactam, order a CT scan, and emergent head and neck surgery consultation.
4. Perform rapid sequence endotracheal intubation, administer intravenous fluoroquinolone, order a CT scan, and emergent head and neck surgery consultation.
5. Perform awake fiberoptic endotracheal intubation, administer intravenous ampicillin–sulbactam, order a CT scan, and emergent head and neck surgery consultation.

Answer: This patient presents with classic sublingual, submandibular space infection known as Ludwig angina. The tongue can be rapidly displaced posteriorly occluding the airway. The airway of choice is awake fiberoptic endotracheal intubation or awake tracheotomy. A CT of neck and intravenous antibiotics (penicillin, ampicillin–sulbactam and clindamycin) are the preferred choice, and incision and drainage by head and neck surgeon is the appropriate treatment.

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History: A 40 year-old man presents with right neck pain that started while he was wrestling with his friend 2 days ago. Today he also has a right-sided frontotemporal headache and complains that he can hear his heartbeat ringing in his right ear. Vital signs are normal. There is no evidence of head or neck trauma. Neurologic exam shows the abnormalities of the right eye seen. What is the most likely diagnosis?

1. Carotid artery dissection
2. Right third cranial nerve palsy
3. Severe neck strain
4. Temporal arteritis
5.  Vertebral artery dissection

Answer: 1. Carotid artery dissection is uncommon but is a significant
cause of stroke in the young. It usually occurs after major or minor neck trauma. The most common symptom is headache, which is usually frontotemporal, followed by neck pain; pulsatile tinnitus occurs occasionally. Neurologic abnormalities, classically a partial ipsilateral Horner syndrome (no anhydrosis), often occur days after the onset of pain and can be quite subtle. In this case the patient’s right eye miosis is obvious, but the ptosis is very mild.

Neck strain would be a diagnosis of exclusion and is less likely here given the classic presentation of carotid dissection.

Third cranial nerve palsy produces severe ptosis, pupillary dilation, and ophthalmoplegia.

Temporal arteritis occurs almost exclusively in those older than 50 years and is not associated with trauma.

Vertebral artery dissection also occurs after neck trauma but usually causes occipital and nuchal pain and brainstem deficits such as vertigo and ataxia.

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History: A crying child came with his parents to ED with c/o vomiting (nonbilious, nonprojectile), abdominal pain, he was pulling his legs to the chest, and passage of blood per rectum. On physical examination, a sausage-shaped mass was felt in RHC. What’s the diagnosis?

1. Abdominal hernias
2. Volvulus
3. Intussusception
4. Acute gastroenteritis
5. Rectal prolapse

Answer: Intussusception is a medical condition in which a part of the intestine folds into the section immediately ahead of it. It typically involves the small bowel and less commonly the large bowel. MC type is Ileocecal – 77%.

Signs and symptoms:

• Early signs: Periodic abdominal pain, nausea, vomiting, pulling legs to the chest area.
• Later signs: PR bleed, often with “red currant jelly” stool (stool mixed with blood and mucus), lethargy, and sausage-shaped mass.

Etiology: Infections, Anatomical factors, Altered motility, Meckel’s diverticulum, Duplication, Polyps, Appendicitis, Hyperplasia of Peyer patches or Idiopathic.

Diagnosis: USG (target or doughnut sign or pseudokidney), CT, X-ray abdomen.

Treatment: Barium or water-soluble enema, surgical reduction.

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History: A 9 yr child with pruritic and painful rashes on the lower extremities and hands. Arthritis and abdominal pain were also noted. What’s the diagnosis?

1. IgA Vasculitis
2. Hypersensitivity vasculitis
3. Leukocytoclastic vasculitis
4. Meningococcemia
5. Rickettsial diseases

Answer: Henoch Schonlein purpura (HSP) also known as IgA vasculitis is an acute IgA mediated disorder characterized by a generalized vasculitis involving the small vessels of the skin, GI tract, kidneys, joints, and, rarely, the lungs and CNS. IgAV is the most common vasculitis in childhood. The disease is more benign in children than in adults.

Signs & Symptoms: Purpura, arthritis, and abdominal pain are known as the “classic triad” of Henoch–Schönlein purpura.

Headache, Anorexia, Fever, Rash (95-100% of cases), especially involving the legs; this is the hallmark of the disease, Abdominal pain and vomiting (35-85%), Joint pain (60-84%), especially involving the knees and ankles, Subcutaneous edema (20-50%), Scrotal edema (2-35%) or Bloody stools.

Diagnosis: Urinalysis, KFT, CBC, PT-INR, aPTT, Biopsy

DDx: IgAV may mimic an abdominal emergency, Papular urticaria, SLE, meningococcemia, dermatitis herpetiformis.

Treatment: Combination of IV methylprednisolone (steroid), cyclophosphamide and dipyridamole followed by prednisone. IVIG.

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History: A 33 yr female presented with fatigue & flat painless purple lesions on the nose. She had a history of HIV infection and a low CD4 cell count. What’s the diagnosis?
1. Hemangioma
2. Kaposi Sarcoma
3. Bacillary Angiomatosis
4. Purpura

Answer: Kaposi sarcoma (KS) is an indolent angio-proliferative spindle-cell tumor derived from endothelial and immune cells infected with human herpes virus type 8 (HHV-8).

Four sub-types are described:

1. Classic KS tends to affect older men in regions where KSHV is highly prevalent (Mediterranean, Eastern Europe, Middle East), is usually slow-growing, and most often affects only the legs.
2. Endemic KS is MC in Sub-Saharan Africa and is more aggressive in children, while older adults present similarly to classic KS.
3. Immunosuppression therapy-related KS generally occurs in people following organ transplantation and mostly affects the skin.
4. Epidemic KS occurs in people with AIDS and many parts of the body can be affected.

Symptoms: Lesions are nodules or blotches that may be red, purple, brown, or black, and are usually papular. They are typically found on the skin, mouth, gastrointestinal tract, and respiratory tract. Growth can range from very slow to explosively fast, and is associated with significant mortality and morbidity. The lesions are painless, but become cosmetically disfiguring or interruptive to organs.

Diagnosis: KS is diagnosed by tissue biopsy, CD4 count

Treatment: HAART, Combination therapy with regimens such as ABV (actinomycin D, bleomycin, vincristine) or single-agent therapy such as doxorubicin. Cytotoxic agents like doxorubicin, daunorubicin, Paclitaxel or oral etoposide. Radiation therapy, cryotherapy, laser therapy or surgical excision.

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History: A healthy 10-year-old boy had a 12 months history of an itchy right eye with frequent tearing. Small masses that gradually developed in the right caruncula lacrimal area and multifocal small nodules with papillomatous growth and vascular fronds.

What’s the diagnosis?

1. Chalazion
2. Papilloma
3. Pterygium
4. Pinguecula
5. Coloboma

Answer: Conjunctival papilloma is an acquired benign epithelial tumor of the conjunctiva and may manifest as a sessile or pedunculated conjunctival mass.

Cause: Human papillomavirus (HPV) 6 and HPV 11

Signs:

• This lesion is typically benign.
• It is seen commonly in older adults.
• Anatomically, the lesion commonly occurs at the limbus or the bulbar conjunctiva.
• These lesions may spread centrally toward the cornea or laterally toward the conjunctiva.
• Visual acuity may be affected if the lesion grows centrally.
• These lesions almost always are unilateral and single.
• They tend to have variable proliferation potential with a tendency to slowly enlarge in size.

Differential diagnosis: Ichthyosis, Sebaceous Gland Carcinoma, Conjunctival Squamous Cell Carcinoma

Treatment: Surgical excision, Erilesional cryotherapy, intralesional or topical interferon-α injection, carbon dioxide (CO2) laser, topical mitomycin-C (MMC), and oral cimetidine have been reported to be adjunctive treatments. Recurrences are not uncommon.

Reference: AAO, NEJM

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