Ca Lâm Sàng 6

In recent years, MRI and CT have been investigated as imaging modalities for evaluation of scoliosis; however, these are very expensive and are unnecessary in most cases.

If surgery is indicated, a set of lateral bending films is often taken to assess the rigidity or flexibility of the curves, but this is not the screening preference.

In recent years, MRI and CT have been investigated as imaging modalities for evaluation of scoliosis; however, these are very expensive and are unnecessary in most cases.

Oblique films are not used as they would not show directionality of the curve justifiably. Rather, standing films should be used to measure a Cobb angle.

Major takeaway
The most appropriate imaging study to order inpatients suspected of having scoliosis is a standing AP and lateral X-ray of the spine.

Main explanation
Scoliosis is a deformity of the spine that is most often idiopathic, but can be associated with other musculoskeletal conditions, or rarely, a tumor of the spine. Idiopathic scoliosis is usually painless and adolescent girls tend to be most affected. A lateral curve is named according to the convexity of the curve. A left sided convexity is a “levoscoliosis,” while a right sided convexity is a dextroscoliosis.
The radiographic assessment of the scoliosis patient begins with erect anteroposterior and lateral views of the entire spine (occiput to sacrum). In addition, the examination should include a lateral view of the lumbar spine to look for the presence of spondylolysis or spondylolisthesis(prevalence in the general population is about 5 %). The scoliotic curve is then measured from the AP view. The most commonly used method is the Cobb method. If surgery is indicated, a set of lateral bending films is often taken to assess the rigidity or flexibility of the curves.

Fanconi anemia is a congenital autosomal recessive condition characterized by bone marrow failure, congenital abnormalities, and an increased incidence of malignancies. It tends to be diagnosed in childhood. It often progresses to acute myeloid leukemia (AML).

Major takeaway
Acute myeloid leukemia (AML) is often diagnosed by the presence of Auer rods on peripheral blood smear. Auer Rods are clumps of granular material forming elongated needles.

Main explanation
Acute myeloid leukemia (AML) is a cancer that begins in the bone marrow. Patients tend to be >40-years-old, with a male:female ratio of about 5:3. AML is an aggressive cancer characterized by quickly growing immature leukocytes (leukoblasts), as well as thrombocytopenia due to extensive bone marrow invasion. Diagnosis can be confirmed by the presence of Auer rods in blast cells (as shown in the image below). Auer rods are clumps of granular material forming elongated needles. They are seen in the cytoplasm of leukemic blasts of M2 and M3 acute myeloid leukemia (AML). They are composed of fused lysosomes/neutrophilic granules and crystalline inclusions.

The most common symptoms are signs of pancytopenia, including fatigue (anemia), easy bleeding (thrombocytopenia), and increased infections (neutropenia). Sternal pain caused by the rapid expansion of bone marrow cavity may be present, causing tenderness to palpation.

The novel point mutation is in the isocitrate dehydrogenase (IDH) gene and prevents oxidative decarboxylation of isocitrate to α-ketoglutaric acid.

The classic presentation of Hodgkin lymphoma is a painless lymphadenopathy, as well as B symptoms such as fevers and night sweats. It will often be characterized by a mediastinal mass that may cause cough, shortness of breath, or retrosternal chest pain that would not be exacerbated by touch.

This patient does indeed have anemia from the physical examination findings. However, it is not due to a deficiency of iron, which would have shown microcytic red blood cells.

A bacterial etiology and inflammation of the throat would cause sore throat, fever, and lymphadenopathy. While it may cause an increase in leukocytes, bacterial infections rarely affect other cells lines, and it is unlikely to present with bone pain.

Panic disorder is a condition characterized by recurrent and spontaneous episodes of fear or distress (panic attacks) accompanied by at least four anxiety-related symptoms: palpitations, tremor, diaphoresis, shortness of breath etc. For diagnosis, these symptoms, along with the fear of experiencing another panic attack, must last for ≥ 30 days.

Agoraphobia is part of a group of conditions collectively named phobic disorders. It manifests as anxiety that occurs in situations that are perceived as potentially dangerous by the patient and from which escape is difficult or impossible. These situations may include wide open spaces, unfamiliar places, and unpredictable social situations.

Specific phobia is an umbrella term that encompasses anxiety disorders linked to specific triggers. These triggers may be objects: airplanes – aviatophobia, arachnids – arachnophobia, blood – hemophobia, or situations: performance in front of an audience – glossophobia, heights – acrophobia, nighttime – nyctophobia.

Culture-bound syndromes are a group of entities that encompass certain behavioral, affective and cognitive manifestations seen in specific cultures. While these manifestations may not be classifiable as any particular disease or condition, they are seen as such by the culture they occur in and they are a cause of distress.

Major takeaway
Generalized anxiety disorder is characterized by excessive, exaggerated fear and worry about everyday life events with no obvious reasons for worry lasting longer than 6 months. Patients with this condition are at increased risk of developing other conditions such as major depressive disorder and bipolar disorder.

Main explanation
Generalized anxiety disorder (GAD) affects 3.1% of the US population and it has a substantial impact on psychosocial functioning and quality of life. Persistent fear or worry that is disproportionate to the causative agent lasting for 6 months or more establishes the diagnosis of GAD.

Patients with GAD often have an increased risk of comorbidity with other Axis I disorders, usually major depressive disorder and bipolar disorder. GAD is also associated with psychosomatic symptoms common to all anxiety disorders, such as palpitations, tremor, diaphoresis, shortness of breath, dry mouth, paresthesias, etc. Left untreated, GAD leads to fatigue of varying intensity, up to chronic fatigue syndrome, a debilitating disorder characterized by a severe, persistent and unexplained fatigue, which can be associated with diffuse pain, sleep difficulties, and cognitive impairment.

Late-onset GAD (≥ 50 years) is associated with increased disability and mortality. Treatment is difficult with low rate of full remission, thus highlighting the need to identify early predictors for prevention in elderly people. Poverty, parental loss or separation and low affective support during childhood, as well as history of mental disorders in parents are significantly and independently associated with GAD.

Antifibrinolytics are used as inhibitors of fibrinolysis by blocking the formation of plasmin from plasminogen. Their application is beneficial in patients with hyperfibrinolysis.

Desmopressin stimulates the release of von Willebrand factor (vWF) from endothelial cells, increasing the levels of vWF and factor VIII 3 to 5-fold. This is useful in the treatment of von Willebrand disease, mild hemophilia A, and thrombocytopenia. It is ineffective in treating hemophilia B or severe hemophilia A.

Platelet transfusions are indicated in patients with thrombocytopenia that are actively bleeding, in preparation for an invasive procedure, or to prevent spontaneous bleeding. Since the patient in this case has hemophilia, platelet transfusion is a secondary step.

Major takeaway
Hemophilia A is the genetic deficiency of factor VIII. The best primary treatment for this condition is replacement with recombinant factor VIII, which reduces the exposure to blood products.

Main explanation
The patient in this question most likely has hemophilia, a bleeding disorder caused by a deficiency in clotting factors. The correct answer to this question is replacement therapy of factor VIII. There are 3 subtypes of hemophilia: A, B and C. The primary perioperative treatment for all hemophilia diseases are to replace the respective missing clotting factors. Hemophilia A has a genetic deficiency in factor VIII, hemophilia B is a deficiency in factor IX, and hemophilia C is a deficiency in factor XI. The clotting factors listed are VIII and X, and the patient’s medical history points to hemophilia A as being the most likely diagnosis. Thus during a surgery, the best primary treatment for a hemophilia A patient is replacement therapy with clotting factor VIII. This involves infusing the patient’s veins with the missing factor until 50%-100% of normal factor levels are attained.

Factor X deficiency is one of the world’s most rare factor deficiencies inherited in an autosomal recessive pattern. It is less likely than hemophilia A or B, which are both inherited in an x-linked recessive pattern.

Major takeaway
Achilles tendinitis is a common condition in active, young athletes, especially marathon runners. Heel pain and tenderness to palpation on the Achilles tendon is common.

Main explanation
The most likely diagnosis in this patient is Achilles tendinitis. Achilles tendinitis is a common overuse syndrome seen in active, young athletes. This patient is currently training for a marathon, making Achilles tendinitis a likely diagnosis.

Physical exam usually shows tenderness to palpation along the Achilles tendon down to its insertion onto the calcaneus. Pain with contraction of the gastrocnemius is a common physical exam finding.

Treatment of Achilles tendinitis is possible with ice, cold compression therapy, wearing heelpads to reduce the strain on the tendon, and an eccentric strengthening exercise routine designed to strengthen the tendon. Other treatments may include non-steroidal anti-inflammatory drugs, such as ibuprofen, ultrasound therapy, manual therapy techniques, a rehabilitation program, and in rare cases, application of a plaster cast. Steroidinjection is sometimes used, but must be done after very careful, expert consideration because it can increase the risk of achilles tendon rupture.

An Achilles tendon rupture would cause pain in the superior heel, but the physical exam would show a positive Thompson test. This test is performed by squeezing the gastrocnemius muscle of a prone patient. Lack of plantar flexion characterizes a positive test and indicates a compromised Achilles tendon.

An ankle sprain is a differential diagnosis, but Achilles tendinitis is more likely given the location of the pain and the physical exam findings. Ankle sprains are characterized by medial or lateral ankle pain and tenderness to palpation along the anatomical course of the ankle ligaments.

Bone spurs in the Achilles tendon are an uncommon diagnosis in young patients. Furthermore, X-rays would reveal calcifications within the Achilles tendon. X-rays of the foot and ankle are normal in this patient.

Plantar fasciitis is a common diagnosis in active, young athletes. It is also a common condition in marathon runners. It is typically characterized by pain in the sole of the foot that is worse upon waking in the morning. Superior heel pain is uncharacteristic of plantar fasciitis.

Medullary carcinomas are well circumscribed on macroscopic examination. They are characterized by soft, fleshy masses that have poorly differentiated cells and a high level of lymphocytic infiltrates seen on biopsy.

Inflammatory carcinoma is associated with lymphadenopathy as well as erythema and edema (so called “peau d’orange”) changes of the overlying skin.

Invasive ductal carcinoma is a type of invasive breast cancer that presents with a firm fibrous mass. It is the most common breast carcinoma and carries a poor prognosis.

Invasive lobular carcinomas are multiple small lesions not felt on breast examination, but seen on mammogram. These lesions have small cells arranged singly in a row within the breast tissue.

Major takeaway
Paget disease of the breast is diagnosed by finding Paget cells (malignant, intraepithelial cells) within the dermis of the nipple. It is associated with an underlying breast cancer (in situ or invasive).

Main explanation
Patients with Paget disease of the breast have painful, eczematous lesions over the nipple that sometimes extend into the areola. These lesions can be vesicular, ulcerative, or scaly, and patients can have bleeding in addition to pain and/or pruritus. Paget disease of the breast is a condition associated with an underlying breast carcinoma. Although carcinoma is associated, the signs of Paget disease may precede the development of a notable mass. A biopsy of the lesion will reveal cells with prominent nucleoli surrounded by an abundant pale cytoplasm, resembling a halo. Treatment is excision of both the nipple-areolar complex and the underlying cancer.

Alcohol abuse can cause a significant decrease in ability to achieve sexual arousal, however, this patient reports that she only drinks one glass of wine per weekend. Alcohol abuse can be diagnosed when the patient’s drinking is interfering with her ability to fulfill major obligations, among other criteria.

Major takeaway
Female sexual interest/arousal disorder may be diagnosed when a woman’s sexual dysfunction cannot be explained by the use of drugs (e.g., antihypertensives or ethanol),psychological factors (e.g., performance anxiety or severe relationship distress), or other diseases (depression, sexually transmitted infections, or diabetes).
Main explanation
Female sexual interest/arousal disorder (FSIAD) is a relatively new diagnosis defined by the American Psychiatric Association’s Diagnostic and Statistic Manual of Mental Disorders, Fifth Edition (DSM-5) that combines the two previous diagnoses of hypoactive sexual desire disorder (HSDD), and female sexual arousal disorder (FSAD) that existed in DSM-IV. It may be diagnosed when a woman’s sexual dysfunction cannot be explained by the use of drugs (e.g., antihypertensives or ethanol), psychological factors (e.g., performance anxiety or severe relationship distress), or other diseases (depression, sexually transmitted infections, or diabetes). The symptoms must be present for at least 6 months, and patients must exhibit at least three of a list of 6 potential symptoms that create an illustration of reduced or absent sexual desire and/or ability to become sexually aroused (the list can be found here http://www.fda.gov/downloads/Drugs/NewsEvents/UCM421590.pdf). The sexual dysfunction must cause clinically significant distress that affects the patient’s overall wellbeing. In the DSM-IV, FSAD was defined by an inability to attain or maintain sexual arousal, defined by achievement of adequate lubrication-swelling response, for long enough to complete sexual activity.

Gender dysphoria may be diagnosed in patients who identify as a gender other than the one that they were designated as at birth. This leads to significant distress than can lead to sexual dysfunction and discomfort, but no evidence in the vignette suggests this diagnosis.

Hypothyroidism can cause a decreased libido and ability to achieve sexual arousal in both men and women. As such, it is one of the first laboratory values that is checked in patients who express symptoms of sexual dysfunction. This patient’s laboratory values were normal.

Post-traumatic stress disorder (PTSD) occurs in patients who have experienced a traumatic episode in the past, e.g., sexual abuseor witnessing violence. While it is possible that this patient could be suffering from PTSD, she reports no events in her medical history and her physical examination is normal.

Crohn disease is an inflammatory bowel disease associated with interferon-gamma-producing type 1 helper T cells. Patients are usually characterized by recurrent diarrhea, crampy abdominal pain, and fever. Common findings include granulomas, ulcers, and strictures of the terminal ileum and colon.

Polymyalgia rheumatica typically affects adults >50 years of age. The common presentation involves pain about the shoulders, neck, hip girdle, and torso. Erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) are elevated.

Primary biliary cirrhosis commonly affects women between 40-50 years of age. Pruritus is usually present during disease onset, while jaundice develops later with increasing hepatic damage. Antimitochondrial antibodies, alkaline phosphatase, and cholesterolconcentrations are elevated (bilirubin is elevated in late disease).

Major takeaway
Primary sclerosing cholangitis (PSC) leads to fibrosis in the intra- and extrahepatic bile ducts. The hallmark feature of PSC is a “beading” appearance of the biliary tree in radiographicimaging with contrast.
Main explanation
Primary sclerosing cholangitis (PSC) is a chronic idiopathic disorder involving inflammation andfibrosis of both intra- and extrahepatic bile ducts. Alternating dilation and stricture of bile ductsresult in characteristic “beading” appearance on ERCP. Concentric fibrosis of the bile ductlumen and loss of small bile ducts may be seen in histological section. Up to 70% of patients with PSC suffer from ulcerative colitis. PSC patients are usually male and in their third through fifth decades of life. PSC can be characterized by jaundice, pruritus, and progressive fatigue. Laboratory studies usually show elevated alkaline phosphatase and perinuclearantineutrophilic cytoplasmic antibody (p-ANCA). The disease is progressive over many years, and 10-15% of PSC patients go on to develop cholangiocarcinoma. The only effective therapy for PSC is liver transplantation.

Sarcoidosis is a multisystemic disease characterized by noncaseating granulomas in multiple tissues. Clinical manifestations include lymphadenopathy, sicca syndrome, iritis, and skin erythema. Cluster of differentiation 4-positive (CD4+) T-cells are elevated, leading to increased local secretion of interferon-gamma and interleukin-2.

Fragile X syndrome is a genetic condition characterized by intellectual disability and development delay. There is a trinucleotide repeat of CGG expansion in the FMR1 gene which results in a long face, large jaw, large ears, macroorchidism, hypotonia, and hyperextensible joints.

Williams syndrome is a genetic condition caused by mutations on chromosome 7 and is characterized by intellectual disability, well-developed verbal skills, extreme friendliness, short stature, elfin facies (low-set ears, elf-like), blue irises, and structural cardiovascular anomalies.

Prader-Willi syndrome is a genetic condition caused by a mutation on the paternal copy of chromosome 15. These patients are initially hypotonic at birth but soon develop into childhood with intellectual disability, short stature, obesity secondary to hyperphagia, hypogonadism, and almond-shaped eyes.

Cystic fibrosis is an autosomal recessive mutation of the cystic fibrosis transmembrane conductance regulator gene (most commonly a deletion of phenylalanine at position 508). Diagnose with sweat and genetic analysis. These patients will have recurrent pulmonary infections, infertility, and pancreatic insufficiency.

Major takeaway
Clinical features of Angelman syndrome include frequent laughter, hand flapping, seizures, ataxia, and developmental delay. Angelman syndrome is a result of a mutation on the maternal copy of chromosome 15.

Main explanation
Angelman syndrome is a genetic condition characterized by a mutation on the maternal copy of chromosome 15. Angelman syndrome occurs as a result of a phenomenon known as genomic imprinting. Genomic imprinting is a principle in which certain genes on a chromosome are only expressed depending on the maternal or paternal origins of the chromosome. The imprinted copy of the gene is silenced through methylation or histone modification. Normally, certain paternal alleles on chromosome 15 are silenced and only the maternal alleles are expressed. However, in Angelman syndrome, the maternal alleles are mutated. Hence, the patient will have disease since only the mutated maternal alleles are active. Patients with Angelman syndrome will classically have developmental delay, seizures, hypo-pigmentation with blond hair, ataxia, unprovoked laughter, and a large mouth with tongue protrusion.

Lyme disease is a sequela of a tick bite and can cause cardiac conduction problems (such as AV block), but these would occur in the mother and not the fetus. There is not evidence that maternal Lyme disease affects the conduction system of the fetal heart.

Menier disease (endolymphatic hydrops) is an uncommon condition that is characterized by disabling vertigo, nausea, and tinnitus. There is no evidence to suggest this affects the fetus of a pregnant woman.

Multiple sclerosis is an autoimmune disease characterized by transient loss of vision and motor weakness. Multiple sclerosis in a mother is not related to cardiac defects in an infant.

Major takeaway
The leading cause of congenital complete heart block is neonatal lupus due to the presence of systemic lupus erythematosus in the mother. Complete heart block is characterized by separate rates for the atria and ventricles.

Main explanation
The leading cause of congenital complete heart block is neonatal lupus. Neonatal lupus can occur in babies born to mothers who have an autoimmune disease (usually systemic lupus erythematosus) and have antibodies to SSA and SSB (also known as Ro and La). However, the mother can have these autoantibodies without having symptoms of lupus at the time of pregnancy. These autoantibodies cross the placenta and are believed to be the cause of damage to the fetal heart. This EKG in the question shows complete heart block(complete dissociation of the atrial and ventricular rhythms). The EKG below also shows complete heart block and is marked with double arrows (p waves) and single arrows (QRS complexes). During pregnancy, fetal bradycardia may be the only sign of neonatal lupus. At birth, the infant can have various degrees of heart block, including complete heart block.

Diabetes mellitus (any type) is associated with macrosomia (larger than gestational age) infants. Infants are also at risk for hypoglycemia at birth and this must be treated promptly.