CA LÂM SÀNG 22

Anorexia nervosa is an eating disorder characterized by the innate fear of gaining weight and a self-perception of being overweight. Anorexia nervosa is associated with a body mass index less than 18.5 and malnutrition. The classic patient with anorexia nervosa is a thin female marathon runner with osteopenia and amenorrhea.

Major takeaway
Body dysmorphic disorder is a preoccupation with an imagined or slight defect in appearance, sufficient to cause the patient significant distress or interfere with their functioning in some way.

Main explanation
Body dysmorphic disorder is a DSM-V diagnosis characterized by a perceived flaw with the patient’s body which they find “repulsive” and “disgusting.” They are preoccupied with a minor defect with their appearance. Typically, they will describe their imperfection out of proportion to physical examination. This imperfection will occupy their time and they will spend hours distressing over their flaw (i.e. examining their nose in the mirror or analyzing the noses of fashion models). These patients will often go to the extremes to fix their defect and can demand plastic surgery to fix their flaw. Body dysmorphic disorder is more common in women than men and generally affects patients between the age of 15 to 20. An selective serotonin re-uptake inhibitor may be helpful in alleviating the symptoms in these patients. Surgery should not be given to these patients as they rarely help correct the perceived imperfections in these patient’s appearance.

Body dysmorphic disorder should be distinguished from other mental disorders. Patients who are afraid that their perceived imperfection will cause social embarrassment should be diagnosed with social anxiety disorder instead. Patients who experience generalized anxietyunrelated to their appearance should be diagnosed with generalized anxiety disorder instead.

Malingering is a psychiatric illness which is similar to factitious disorder. Patients with malingering will exaggerate or fabricate their symptoms. However, they are driven by an external motive. This could include avoiding work or school, obtaining medications, and avoiding jail or military service.

Delusions are fixed beliefs that are not amenable to change in light of conflicting evidence. In the DSM-V the criteria to make a diagnosis of delusional disorder state that a patients condition must not be better explained by the diagnosis of body dysmorphic disorder.

Social anxiety disorder is characterized by the fear of social situations which cause significant impairment of daily life. Social anxiety disorder is an egodystonic disorder and patients will experience anxiety which can last 6 months or more.

Major takeaway
Fibroadenomas are characterized as mobile, firm rubbery masses with sharp edges. They are often estrogen-responsive and therefore increase in size and tenderness during pregnancy or menstruation.

Main explanation
Fibroadenomas are benign lesions of the breast that most often occur in young women of reproductive age. The peak incidence is in women in their third decade of life. Fibroadenomasare typically characterized by firm, rubbery, mobile masses that are viewed as well-definedmasses on ultrasound. They are often estrogen responsive and thus increase in size during pregnancy or menstruation and regress after menopause. Diagnosis can be confirmed with a core biopsy or excision. Surgical excision is not always required for fibroadenomas unless they are symptomatic of exhibit an increase in size. Otherwise, they can be followed with a short-term repeat ultrasound.

Fibrocystic changes usually involve the formation of multiple nodules in the bilateral breasts. They are filled with serous, turbid fluid and may develop microcalcifications which can be seen on mammogram.

Inflammatory carcinomas are usually comprised of poorly differentiated cells that invade breast parenchyma and block dermal lymphatic spaces. It is characterized clinically by an enlarged, swollen, erythematous breast without a palpable mass.

Intraductal papillomas are neoplastic growths of papillary cells that are usually found within the principal lactiferous ducts or sinuses. The most common symptom is serous or bloody nipple discharge.

Radial scars are idiopathic lesions that are not palpable. They can occasionally be detected on mammography, but most are diagnosed incidentally upon removal or biopsy of another breast mass.

If the patient had transcortical motor aphasia, she would have poor fluency in communication but intact repetition.

If the patient had anomic aphasia, she would have presented with fluent communication, poor auditory comprehension, mild difficulty repeating words and significant difficulty retrieving desired words of names and objects.

If the patient was presenting with conductive aphasia, she would have relatively good auditory comprehension and fluent speech. However, she would have a poor speech repetition.

If the patient had receptive aphasia, she would have fluent paraphasic communication, and defective auditory comprehension. She does not have either of these things.

Major takeaway
It’s best to think about aphasias using a flow chart. Categorize them first by fluency, then comprehension, then repetition ability. Broca’s expressive aphasia is characterized by poor fluency, intact comprehension, and poor repetition.
Main explanation
This patient has expressive (Broca’s) aphasia. She is non-fluent but she is has mild difficulty with auditory comprehension. She also had moderate difficulty with repetition and severe difficulty with naming objects. The most likely clinical localization in this patient is the left primary motor cortex of the face andarm areas, Broca’s area, and adjacent left frontal cortex. The most common etiology is infarct in the territory of the superior division of the left middle cerebral artery (MCA). She also has many risk factors for the development of a cerebrovascular accident such as hypertension and smoking. Broca’s aphasia is decreased fluency of spontaneous speech. Broca’s espressive aphasia is characterized by poor fluency, intact comprehension, and poor repetition.Commonly associated features in Broca’s aphasiainclude dysarthria andright hemiparesis affecting the face and arm more than the leg.

Achalasia, if present, is usually diagnosed in patients between 25 and 60 years. Barium swallow studies show a dilated esophagusthat terminates in a beak-like narrowing, aperistalsis, and poor emptying of barium from the esophagus.

Major takeaway
Tracheoesophageal fistula (TEF) is a common congenital anomaly of the respiratory tract. TEF typically occurs with esophageal atresia (EA). TEF and EA are caused by a defect in the lateral septation of the foregut into the esophagus and trachea.

Main explanation
The patient has a congenital tracheoesophageal fistula. A fistula is an abnormal connection between either two tubes (e.g. an artery and a vein), or between a tube and a surface. In tracheoesophageal fistula, there is a tube-tube connection between the trachea and the esophagus. This connection may not have a central cavity (i.e. a patent lumen), but if it does, then food may travel from the esophagus into the trachea, or air may travel in the reverse direction.

Tracheoesophageal fistula (TEF) is a common congenital anomaly of the respiratory tract. TEF typically occurs with esophageal atresia (EA). TEF and EA are caused by a defect in the lateral septation of the foregut into the esophagus and trachea. TEF and EA, when present together, is usually associated with polyhydramnios during the pregnancy; however, it may not be detected prenatally. Neonates are often characterized by excessive secretions, coughing, choking, and cyanosis secondary to secretions. There are five different types of TEF anatomicvariants, with the most common variant being the proximal atresia.When identified, corrective surgical treatment is usually performed shortly after birth.

Patients with diffuse esophageal spasms are characterized by dysphagia for solids and liquids. This is a disorder that is rarely seen in the pediatric population and should be lower on the differential.

Achalasia-like motility disorder secondary to a mucosal neoplasm is highly rare in neonates. Patients are more likely to be >60 years old, experience weight loss, and experience a difficult passage of an endoscope through the gastroesophageal junction.

Infantile hypertrophic pyloric stenosis (IHPS) is characterized by projectile vomiting due to hypertrophy and obstruction of the gastric outlet. IHPS is present in 2-3/1000 births. Most present between 2-8 weeks of age. Monitoring for a hypochloremic metabolic alkalosis secondary to vomiting is crucial. Ultrasonography is used to detect pyloric stenosis.

Vulvovaginal candidiasis is not typically spread through sexual intercourse, so testing of sexual partners is not routinely recommended.

Major takeaway
Vulvovaginal candidiasis presents with vulvar pruritus and burning, often accompanied by dysuria, dyspareunia, and thick white discharge. Oral fluconazole is the treatment of choice; however, topical agents are also available and may have fewer systemic side effects.
Main explanation
This patient’s history of vulvar pruritus, thick vaginal discharge, and dyspareunia are common symptoms of vulvovaginal candidiasis, one of the leading causes of vaginitis. Other associated symptoms include vulvar burning or irritation and dysuria. Physical examination typically shows erythema of the vulva and vagina. The diagnosis can be confirmed by wet mountpreparation with KOH, which classically shows branching pseudohyphae with spores, typical of Candida spp. Patients who are otherwise healthy with mild symptoms can be treated with a single dose of oral fluconazole. Local therapies are also available and may be associated with more rapid resolution of symptoms and reduced side effects; however, many patients prefer oral to intravaginal medication.

Amoxicillin is an aminopenicillin used to treat many common bacterial infections. This patient’s symptoms are due to fungal infection and would not be improved with antibiotic use.

Doxycycline is an appropriate treatment for patients with chlamydial cervicitis; however, chlamydial infection would not be associated with pseudohyphae with spores on microscopic examination.

Metronidazole is the treatment of choice for bacterial vaginosis and trichomoniasis; however, it is not indicated for the treatment of vulvovaginal candidiasis.

Ampicillin is an antibiotic which will not address the immune-mediated nature of this patient’s condition. This patient lacks a fever or other symptoms suggestive of a bacterial infection.

Captopril is an angiotensin-converting enzyme (ACE) inhibitor which are primarily used to treat hypertension and congestive heart failure. They can be used to treat proteinuria, a possible symptom of Goodpasture syndrome, but ACE inhibitorsare not an accepted treatment for the syndrome itself.

While it has numerous applications and can improve some of this patient’s symptoms, an intravenous saline infusion will not address the immune-mediated nature of this patient’s condition.

Major takeaway
Goodpasture syndrome is associated with antibodies to the alpha-3 chain of type IV collagen. Treatment is plasmapheresis combined with prednisone and cyclophosphamide.
Main explanation
This patient has Goodpasture syndrome, an autoimmune disease that targets a certain site (alpha-3 chain of type IV) of collagen in the lungs and kidneys. Pulmonary symptoms, which often occur first, include cough, shortness of breath, and hemoptysis. Renal symptoms include hypertension, hematuria, proteinuria, and peripheral edema. Other findings consistent with Goodpasture syndrome include presence of anti-glomerular basement membrane (GBM) antibodies, as well as glomerulonephritis.

The goal of treatment is to mitigate activity of anti-GBM antibodies. The recommended treatment for Goodpasture syndrome is plasmapheresis combined with immunosuppressivemedications, namely prednisone and cyclophosphamide. Plasmapheresis removes anti-GBM antibodies and other mediators of inflammation (such as complement), while immunosuppressive agents minimize new antibody formation.

Rituximab induces B-cell apoptosis. It is administered intravenously to treat a variety of autoimmune disorders. While it is often utilized in the treatment of Goodpasture syndrome, it is co-administered with other immunosuppressive medications and plasmapheresis.

swelling, and dysuria. Diagnosis is made by identifying the bacteria through culture of the material from a swab or identification of genetic material from bacteria.

An infection with Chlamydia trachomatis often results in no symptoms, but can lead to some vaginal discharge or bring with urination. Diagnosis is made by nucleic acid amplification tests.

Candida albicans is a causative organism of vaginal candidiasis, or yeast infection, which is commonly confused with bacterial vaginosis. It has similar clinical presentation of pruritus and increased vaginal discharge. However in candidiasis, vaginaldischarge is thick, and budding filaments and pseudohyphae can be seen on a wet mount.

Trichomonas vaginalis is a protozoan that causes a sexually transmitted disorder characterized by green-yellow malodorousdischarge and motile trichomonads visible on a wet smear.

Major takeaway
Bacterial vaginosis is a common cause of vaginosis caused typically by a bacterial overgrowthof Gardnerella vaginalis. It is treated with a course of metronidazole.

Main explanation
This patient’s clinical presentation is consistent with bacterial vaginosis caused by Gardnerella vaginalis, which is the most common cause of vaginosis and the most common infection encountered in the outpatient gynecological setting. An increase in vaginal discharge and“fishy” or “musty” odor are the most common clinical presentations of bacterial vaginosis. Although bacterial vaginosis is not considered to be a sexually transmitted disease, sexual activity has been linked to the development of this infection. Presence of clue cells on a saline smear is the most specific criterion for diagnosing bacterial vaginosis. Clue cells are vaginal epithelial cells that have bacteria adherent to their surfaces.

Achalasia is characterized by dysphagia due to a failure of smooth muscle fibers to relax, which can cause the lower esophageal sphincter to fail to open appropriately. Iron-deficiency anemia and esophageal web are not features of this condition.

Esophageal squamous cell carcinoma can present with dysphagia – particularly progressive dysphagia to solids, odynophagia, unintentional weight loss, and dyspepsia, but is not associated with the characteristic triad of Plummer-Vinson Syndrome.

Major takeaway
Plummer-Vinson syndrome, also known as Patterson-Brown-Kelly syndrome, is a rare disorder characterized by a clinical triad of dysphagia, iron-deficiency anemia, and an esophageal web.
Main explanation
Plummer-Vinson syndrome, also known as Patterson-Brown-Kelly syndrome, is now a rare disorder characterized by the clinical triad of dysphagia, iron-deficiency anemia, and upper, an anterior esophageal web. The typical patient presenting with Plummer-Vinson syndrome is a postmenopausal, white, middle-aged woman.

Symptoms of iron-deficiency anemia may be present including malaise, glossitis, angular cheilitis, and koilonychia. Dysphagia associated with Plummer-Vinson syndrome is usually painless and intermittent but may be associated with weight loss. Plummer-Vinson syndrome is treated with iron supplementation and mechanical esophagealdilatation as needed. PVS is considered to be a premalignant condition due to an association with an increased risk of esophageal squamous cell carcinoma. Close clinical surveillance is indicated.

Scleroderma is a rare, chronic autoimmune disease characterized by dermal hardening. It can present with dysphagia, particularly the CREST variant (calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly and telangiectasia). However, iron-deficiency anemia and esophageal webs are not characteristic of the disease.

Chronic gastroesophageal reflux disease (GERD) is associated with formation of lower oesophageal rings which may or may not be symptomatic.

Alcohol use disorder involves problems that are encountered while controlling drinking. It is characterized by “binge-drinking”, depression, dizziness, vomiting, and insomnia. However chronic alcohol abuse usually shows changes in liver function tests and this patient has tetrahydrocannabinol which suggests the use of cannabis.

Cocaine dependence is a psychological desire to use cocaine regularly. Cocaine is a powerful stimulant which creates euphoria and its withdrawal is characterized by dysphoria, depression, tachycardia, panic attacks, and cognitive impairments. However in this patient tetrahydrocannabinol is found in the urine which is a sign of cannabis use.

Amphetamine dependence refers to psychological dependence on amphetamines and it is characterized by depression, anxiety, weight loss, nausea, insomnia, and confusion. In this patient tetrahydrocannabinol is found in the urine which is a sign of cannabisuse instead of amphetamine use.

Major takeaway
Cannabis dependence is a psychological desire to use cannabis because it provides a feeling of increased relaxation. Insomnia, red eyes, and decreased appetite are the main withdrawal symptoms. Psychotherapy is primarily used to treat cannabis use disorder.
Main explanation
Cannabis is one of the most widely used drugs in the United States as provides a feeling of increased relaxation (euphoria). At higher doses it can cause hallucinations and ataxia. Cannabis dependence or cannabis use disorder is the continued use of cannabis despite clinically significant impairment. Withdrawal symptoms include dysphoria, gastrointestinal symptoms, insomnia and decreased appetite. Dry, red eyes with no discharge is also a sign of cannabis use. This case is a classic presentation of cannabis dependencewhich is further supported by the presence of tetrahydrocannabinol in the patient’s urine sample. Tetrahydrocannabinol is the main psychoactive component of cannabis. Cannabis dependence is mainly treated with psychotherapy.

Nicotine dependence develops over time with continued use of nicotine which results in heavy usage of cigarettes. Withdrawal symptoms include negative moods, difficulty in concentrating, tachycardia, nausea, and insomnia (in rare cases). However in this patient urine analysis shows presence of tetrahydrocannabinol which is consistent with cannabis use.

Bell’s palsy describes an isolated CN VII palsy characterized by facial droop, loss of lacrimation and diminished taste. While a possibility, it does not account for all her symptoms including her erythema nodosum, uveitis, and plaques.

Dermatomyositis is a systemic inflammatory myopathy most commonly characterized by proximal muscle weakness. Skin findings are also common, and include Gottron’s papules and a heliotrope rash on the upper eyelids, unlike the erythema nodosum and plaques seen in this patient. Interstitial lung disease may also occur.

Major takeaway
Sarcoidosis is a systemic granulomatous disorder that can involve any organ system. Neurosarcoidosis most commonly presents as cranial neuropathy due to chronic basal meningitis, with the facial and optic nerves characteristically affected.
Main explanation
Sarcoidosis is a systemic granulomatous disorder of unknown etiology. The non-caseating granulomas are characteristically found in the lungs, where they can cause cough and dyspnea, but any organ can be affected. A systemic disorder such as sarcoidosis should be considered whenever multiple organ systems are involved.

Neurosarcoidosis is the term used when the central or peripheral nervous systems are involved, and accounts for about 5-13% of cases. The most common presentation of neurosarcoidosis are cranial neuropathy and headache due to chronic basal meningitis (the facial and optic nerves are most commonly affected). This can manifest as facial droop which indicates involvement of CN VII. Other, less frequent neurological manifestations include ataxia, weakness, cognitive problems and seizure.

Definitive diagnosis of sarcoidosis requires positive histology of the affected tissue; the most common finding is non-caseating granuloma(s). Skin findings include macules and plaques. Erythema nodosum is also characteristic of the disease, but biopsy here is notably nonspecific. Uveitis is the most common sign associated with eye involvement and eye involve is present in 25-80% of cases.

Treatment is usually not required, but in cases of neurological involvement aggressive treatment with corticosteroids and immunosuppressants like azathioprine, may be required.

https://www.osmosis.org/learn/Sarcoidosis

A stroke is always an important consideration when motor or sensory deficits are noted, especially in the head and neck. Strokepresentations vary depending on the location of the stroke, but it will not present with a rash and is generally more abrupt in onset.

Systemic lupus erythematosus is an autoimmune disorder characterized by a malar facial rash, sensitivity to sunlight, endocarditis, polyarticular arthritis mostly of the small joints, myopathies, and other symptoms. It does not account for her facial nerve palsy.