So You Think You Can Diagnose

By: Eric Steinberg, Alumnus

  1. A 34yo recently divorced female went on a dissociative fugue to Cancun, Mexico and came back to Long island 3 days later with bloody, foul-smelling, straight up nasty diarrhea. About 10 days later, while getting a pedicure, she noticed weakness in her toes. 2 days later, she couldn’t breathe. Whats the dx? What do we see on CSF analysis? How is it treated?campylobacter sig.png8e44c873-d3e2-4259-871d-57e029ae2b4eLarge
  2. 4-year-old Cambodian child presents to your office with a 6-day history of fever over 105, bilateral conjunctivitis, a diffuse maculopapular rash, and swelling of his hands and feet. On physical exam, you also note a swollen tonue with red spotting as well as anterior cervical lymphadenopathy. What is the diagnosis? Treatment? After treatment what needs to be done?230px-Kawasaki_symptoms_B

 

Answers:

  1. Classic Guillian- Barre Syndrome secondary to a Campylobacter jejuni infection. Campylobacter is the most common cause of infectious diarrhea in the world (along with Salmonella spp.) Look for bloody diarrhea and a travel history. This is also one of the known, rare (but common on COMLEX/ USLME) causes of Guillian Barre Syndrome. GBS is an acute inflammatory demyelinating polyneuropathy, an autoimmune disorder affecting the peripheral nervous system, usually triggered by an infectious process. GBS is rare, with an incidence of 1 or 2 people per 100,000. The typical CSF finding is ALBUMINO-CYTOLOGICAL DISSOCIATION. As opposed to infectious causes, this is an elevated protein level (100-1000 mg/dL), without an accompanying increased cell count (very high yield). It is frequently severe and usually exhibits as an ascending paralysis with weakness in the legs spreading to the upper limbs and face along with complete loss of deep tendon reflexes. With prompt treatment with plasmapheresis or intravenous immunoglobulins and supportive care (on boards choose respiratory support d/t the possibility of Phrenic Nerve paralysis), the majority of patients will regain full functional capacity. However, death may occur if severe pulmonary complications and autonomic nervous system problems are present. GBS is one of the leading causes of non-trauma-induced paralysis in the world.
  2. Kawasaki’s disease is another rare disease that is commonly tested on boards. This classic presentation is most easily remember by the mnemonic “CRASH and BURN.” C-conjunctivitis, R-rash, A-adenopathy, S-strawberry tongue/skin findings H-hand and feet swelling, BURN- fever for at least 5 consecutive days. The treatment is IVIg and high dose aspirin (one of the only times you give a kid aspirin.) After treatment, it is important to get serial echocardiograms (about 6 months) because these children are at risk for coronary artery aneurysms (very high yield).

So You Think You Can Diagnose?

By: Molly Kelly, OMS-IV

Case 1

A 56 year old woman is rushed to the Emergency Room experiencing chest pains radiating to left arm with shortness of breath.  She states the symptoms started suddenly correlating the onset with being scared out of her wits after crossing paths with Dr. Evil while walking home. An EKG shows mild ST elevations and the first set of cardiac enzymes are elevated. The patient is admitted to the ICU where an x-ray study of the coronary arteries and left ventricle with dye is completed demonstrating the absence of severe plaque buildup in a coronary artery as well as an unusual shape of the left ventricle.  This distinctive shape is characterized by a narrow upper portion with the lower portion enlarged like a balloon.Stress myocardiopathy

What reversible cardiac condition does this patient have?

A.) Myocardial infarction

B.) Takotsubo Cardiomyopathy

C.) Prinzmetal’s Angina

D.) Eccentric Left Ventricular Hypertrophy

 

Case 2

A 26 year old woman comes to your office at the behest of her friends as they are concerned with her recent inability to do well at her job as a librarian. They note that their normally shy and reserved friend has been reprimanded for talking too much and too loudly as well as dressing provocatively and giving out her phone number to boys simply checking out books from the library. They note this behavior began after her recent hospitalization for encephalitis.  She still does her job well with library operations and easily follows directions but her boss is threatening to fire her if the problems continue.

What medical condition does this patient have validating her friends concern?

A.) Bipolar Disorder

B.) Folie à deux

C.) Histrionic Personality Disorder

D.) Klüver-Bucy Syndrome

 

ANSWERS:

Case 1- Takotsubo, or Stress, Cardiomyopathy, also commonly known as “broken heart syndrome,” starts abruptly and unpredictably, with symptoms of chest pain and shortness of breath, usually triggered by an emotionally or physically stressful event, and with a predilection for women older than 50 years of age.  Although the basic cause of this condition is unresolved, the frequent association with stress has focused attention on the autonomic nervous system. It has been suggested that when powerful hormones such as adrenaline are released in excess, the heart muscle can be damaged in patients with takotsubo.  The shape of the heart, particularly the left ventricle, closely resembles the ceramic Japanese takotsubo pot used to collect an octopus. Because a large proportion of the heart muscle is injured, heart failure can occur.  Fortunately, with timely recognition and supportive therapy, takotsubo events are reversible, and recovery is usually rapid and complete. Heart function improves over several days and is usually normal within 7 days.

 

Case 2- Klüver-Bucy syndrome is a syndrome resulting from bilateral lesions of the amygdala most commonly from herpes simplex encephalitis. It may present with hyperphagia, hypersexuality, hyperorality, and docility. There is no cure for Klüver-Bucy syndrome. The disorder is not life-threatening, but the patient can be difficult to manage. With treatment, symptoms may slowly decline. This may be a difficult diagnosis especially in comparison to answer C with histrionic personality disorder, however, histrionic patients tend to base their symptoms on the need for intimate relationships and there is typically no correlation with illness or injury.

So You Think You Can Diagnose?

By: Molly Kelly, OMS-IV

Case 1:

An 8 year old second-grader is brought to the pediatrician by her parents who state that their normally quiet and polite daughter has gradually started behaving boisterous and rude. She has been repeating the word “cabbage head” while stumbling around the house running into doorways and tripping over steps. Her parents also report that there has been a gradual decrease in her grades and states that she no longer can correctly answer homework questions but rather draws pictures on her homework papers. Her parents have also noticed that she has oddly had spells of hyperventilation or spells of breath-holding in addition to loud teeth grinding.

Case 2

A 78 year old elderly woman presents to her physician with the complaint of her lower dentures falling out of her mouth for the past 2 days as she has pain and difficulty closing her mouth because her “tongue has gotten too big to fit inside.” Upon exam she is noted to have a fever of 100.4, stiff neck, and to be drooling. She also has a woody induration in her sub-mandibular area but no lymphadenopathy is appreciated. The patient is immediately sent to the Emergency Department where a CT is ordered.

What is wrong with this patient, and what is the ideal treatment?

Case 3

A 16 year old teenage male presents to his family physician appearing apprehensive. Upon questioning, he admits he has recently started wetting the bed at night. He also complains of involuntary muscle contraction in his hands as well as generalized weakness and fatigue. Upon exam, he demonstrates a positive Chvostek sign and is noted to have dry skin. What electrolyte abnormalities are characterized by this patient’s disorder?

Case 4

A 25 year old man returns from a two month backpacking trip along the Ogooue River in Western Africa where he was exploring the native population’s healthcare remedies. His notices something in his eye that looks like a squiggly line under the cornea after bouts of red itchy swellings under his skin on his face. What is wrong with this guy’s eye?

 

 

Answers:

Case 1- This girl has Spielmeyer-VogtSjogren-Batten Disease aka Batten’s Disease. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs) where an autosomal recessive mutation causes the buildup of lipofuscins in the body’s tissues. Symptoms of this rare, fatal autosomal recessive neurodegenerative disorder are of gradual onset where affected children sufer mental impairment, onset of seizures, progressive loss of sight to eventually becoming blind, bedridden, and demented. As there is no cure, children afflicted with this disease die at age 13-18 years depending on the type of mutation.

Case 2- This woman has Ludwig’s Angina which is a bilateral polymicrobial infection of the submandibular space that consists of the sublingual space and the submylohyoid space in the floor of the mouth. This diagnosis has the classical description of an aggressive, rapidly spreading “woody” or brawny cellulitis involving the submandibular space without lymphatic involvement and typically without abscess formation bilaterally. Computed tomography is the imaging modality of choice as treatment consists of assessment and management of the airway in addition to empiric broad-spectrum IV antibiotics for 2-3 weeks.

Case 3- This guy has Gitelman’s Syndrome characterized by hypokalemia, hypocalcemia, and hypomagnesemia. This is an autosomal recessive disorder with a mutation in the gene coding for the thiazide-sensitive Na-Cl cotransporter in the distal tubule manifesting in late childhood and adolescence.

Case 4- This man has an infection with the filarial nematode, Loa Loa. This parasitic worm is spread via the bite of the female Chrysops fly in Western and Central African countries. The worm is often directly visible as it crosses the conjunctiva, which usually takes approximately 10 to 20 minutes. It is more common in individuals who are not native but have had extended exposure to demonstrate Calabar swellings or red itchy swellings below the skin. Treatment of loiasis involves chemotherapy with diethylcarbamazine (DEC) although in some cases, surgical removal of adult worms followed by systemic treatment is appropriate.

Approaching Respiratory Distress Cases

This issue of ‘So you think you can diagnose?’ will be a variation on the usual segment where there will be two separate cases. These are a culmination of ambulance calls I experienced while working as an EMT this past summer. I have been working in EMS for eight years; it is one of the things that affirmed my decision to become a doctor. I’ve always taken every opportunity to work in the field and this being my “last summer,” I made sure to take advantage of the time I had left to do so and was rewarded with some very fascinating cases. I’ve always found respiratory distress calls to be some of the most interesting I’ve encountered and so the two cases will both be based on instances where, at least initially, the patient’s complaint was just that. It has been my job (and now yours) to be able to take the basic presenting information and then delve out the rest. Here goes…

Case 1: 76 year old male with history of COPD, Congestive heart failure (CHF), and Alzheimer’s living at home

CC: difficulty breathing and fatigue

HPI: The patient has not been feeling well for the past few days and woke up this morning with difficulty breathing. He is too weak to stand up out of bed, and his family states his mental status seems “off” from usual.  Patient has a productive cough with yellow-green sputum. Patient states it hurts to breathe.

PE: HR 100, RR 30, BP 116/76. Patient appears ill and confused. Skin is diaphoretic and warm to touch.  Expiratory rales heard B/L on auscultation of lungs. Decreased breath sounds at left lung.

Patient responds to supplemental O2 therapy with a decrease in respiratory rate (26) but does not feel better.

Case 2: 73 year old female with history of COPD and CHF living in a nursing home

CC: difficulty breathing and fatigue

HPI: The patient has been feeling fatigued for the past few days with progressively difficult breathing and shortness of breath. Today she feels too weak and has too much trouble breathing to move around for extended periods of time. Patient has a productive cough which is stated to be clear. Patient states the difficulty breathing is worse when lying down and with exertion. Chest pain is denied.

PE: HR 108, RR 28, BP 100/72. Expiratory rales audible. Inspiratory and expiratory rales heard throughout lungs B/L on auscultation. Patient has pitting edema 2+ B/L to lower extremities.

Patient responds to supplemental O2 therapy with a decrease in respiratory rate (24) and states she feels better and stronger with it.

As stated at the beginning, these cases are based on real ambulance calls; and therefore, the material is presented similarly to what could be obtained pre-hospital. The information provided to you is mainly based on the patient’s history, the most important tool in your diagnosis arsenal. After looking through the cases, think of differentials for these two patients and what information/labs/tests you would want based on what you think is most likely causing the respiratory distress in each.  Both present similarly at first glance so start looking for what distinguishes them and consider why. Happy Diagnosing!

 

 

 

ANSWERS:

case 1: Bacterial Pneumonia – consider S. Pnuemoniae, H. Influenzae

case 2: Pleural Effusion from CHF exacerbation

The Season of Rashes

By: Molly Kelly, OMS-IV

1.) A 6 year old boy is brought to your office by his mother who states that the patient has been experiencing fevers of 101.3F and complaining of abdominal pain and vomiting for the past several hours. She also notes that the patient has developed an unusual rash on his legs and has been complaining of pain in his knees and ankles. Upon further review of his history, you learn the boy had a mild cold that resolved last week. Your physical exam reveals a reddish-purple palpable rash on his legs and buttocks and swelling of his knees and ankles with restriction in motion. What immunoglobulin is responsible for this child’s presentation?

2.) A 52 year old woman comes to the office for her annual wellness exam. She complains she is getting old when she attempts to stand up from a chair in the waiting room and finds herself needing to use her arms to push herself up out of the chair. She also complains about her new hair-do as she had to cut her hair shorter because she found it increasingly difficult to brush her hair in the morning. She states that it has been taking forever for her to get ready in the morning because of “getting old” and proudly shows off her new violet colored eyeshadow she says has developed naturally. Upon exam, you discover an erythematous rash in a V-like distribution on her shoulders and back. You also notice scaly erythematous eruptions or red patches overlying the knuckles as pictured below. What does this woman have?

3.) A 13 year old boy is brought to his pediatrician with complaints of a fever, headache, sore throat and a painful rash. The rash is versicular in appearance and localized to his palms and soles. In getting a throat culture, the you notice the patient has ulcers in his mouth and on his tongue. What is responsible for this patient’s illness?


ANSWERS:

1. Immunoglobulin A (IgA) and Complement component 3 (C3)
This boy has Henoch-Schonlein purpura (HSP or anaphylactoid purpura) is a form of blood vessel inflammation or vasculitis in which complexes of immunoglobulin A (IgA) and complement component 3 (C3) are deposited in the small arterial vessels in the skin, gastrointestinal tract and frequently the kidneys. HSP results in a skin rash, most prominent over the buttocks and behind the lower extremities associated with joint inflammation (arthritis), and cramping pain in the abdomen.
2. Dermatomyositis
This woman is not feeling her age because she has dermatomyositis, a connective-tissue disease related to polymyositis that is characterized by inflammation of the muscles and the skin. While dermatomyositis most frequently affects the skin and muscles, it is a systemic disorder that may also affect the joints, the esophagus, the lungs, and, less commonly, the heart. The main symptoms include skin rash and symmetric proximal muscle weakness which may be accompanied by pain. The heliotropic or “lilac” rash is a violaceous eruption on the upper eyelids, the shawl (or V-) sign is a diffuse, flat, erythematous lesion over the back and shoulders which worsens with UV light. The lesions seen on her hands are known as Grotton’s papules.
3. Coxsackie A Virus
Hand-foot-and-mouth disease (HFMD) is a moderately contagious viral illness most commonly caused by coxsackie A virus, a member of the picornaviridae family. This illness is characterized by fever, sores in the mouth, and a rash on the hands and feet with blisters. It mostly affects children younger than 10 years of age, but people of any age can be infected. HFMD is not to be confused with foot-and-mouth disease, also called hoof-and-mouth disease, which is a separate disease affecting sheep, cattle, and swine. Both diseases are caused by members of the picornaviridae family, but are not trans-communicable between humans and livestock.