CA LÂM SÀNG 11

Main explanation
Displacement is described as avoided feelings that are transferred to another person or object. This man is upset over his boss and he reacts negatively towards his wife.

Major Takeaway
Displacement is described as avoided feelings that are transferred to another person or object.

Denial is the absolute avoidance of a painful reality. It is common in newly diagnosed patients with AIDs and cancer.

Projection is a defense mechanism that allows someone to deal with emotional issues by falsely accusing their own unacceptable thoughts onto someone else. The most common analogy is when a husband accuses his wife of cheating although he is the one that is being unfaithful.

Splitting is the belief that people are all good or all bad, no common ground

Reaction formation is when an idea or feeling is unconsciously replaced by its opposite thought. It is a defensive process to compensate for uncomfortable or anxiety-producing thoughts

Circumcision alone is contraindicated in patients with hypospadias (ventrally located urethra). It is important for patients to undergo surgical correction prior to circumcision.

While it is correct that you should abort the procedure, providing prophylactic antibiotics for a urinary tract infection is not correct. The patient has no signs or symptoms of a urinary infection and this would expose the patient to unnecessary antibiotics.

In cases of hypospadias (urethra located on the ventral surface of the penis) patients should be sent for surgical correction prior to circumcision.

Due to the urethras placement (ventral surface of penis) we can gather that the patient has a case of hypospadias. While the patient will need surgical correction of this he does not need confirmation of urethral patency.

Major takeaway
Hypospadias is characterized by a ventrally located urethra and is associated with cryptorchidism and inguinal hernias. Circumcision is contraindicated prior to surgical correction.
Main explanation
Hypospadias is characterized by a urethral opening on the ventral surface of the penis and is only seen in males. This is in contrast to epispadias in which the urethral opening is found on a dorsal body surface (typically the penis) and can be seen in both males and females. Hypospadias and epispadias are commonly associated with other urogenital abnormalities. These abnormalities include, cryptorchidism and inguinal hernias which can be seen in hypospadias and urinary incontinence and bladder exstrophy which can be seen in epispadias. Both hypospadias and epispadias will need surgical correction prior to routine circumcision due to the difficulty in surgical correction if circumcision is performed prior to the procedure.

Major takeaway
Atrophic vaginitis is common after menopause. Vaginal estrogen is the most appropriate treatment if this is the main symptom of concern. Systemic estrogen is also effective but carries greater risk.

Main explanation
In general, vaginal atrophy symptoms are best treated by vaginal estrogen. Vaginal atrophy results from estrogen deficiency leading to thinning of the vaginal epithelium. Atrophic epithelium appears pale, smooth and shiny.
Inflammation with patchy erythema, petechiae, and increased friability may also be present. This results in symptoms of vaginal dryness, itching, and often dyspareunia. Both systemic and vaginal estrogen can effectively treat symptoms of genitourinary atrophy but vaginal estrogenhas the benefit of local effect without systemic effects.
Adequate estrogen therapy leads to restoration of the normal vaginal acidic pH and microflora, thickening of the epithelium, increased vaginal secretions, and decreased vaginal dryness.

A summary of atrophic vaginitis:
• Common in post menopausal women.
• Caused by the decrease in overall, but specifically, vaginal estrogen.
• Clinical features – dyspareunia, postcoital spotting and mild pruritus.
• Generally a visual diagnosis – thinning of tissues, erythema, petechiae, bleedingpoints, dryness on speculum exam.
• Treatment – local estrogen replacement (ideal): Premarin® cream, VagiFem® tablets, or Estring®

Vaginal moisturizers can improve coital comfort and increase vaginal comfort. However, they do not reverse most atrophic changes and are used mostly for women with mild symptoms.

SSRI can be utilized for treatment of vasomotor symptoms of menopause. However, they do not appear to be effective in the treatment of vaginal atrophy.

Sexual activity can improve vaginal function; however, this is not an option for women in whom dyspareunia precludes sexual activity.

For treatment solely for vaginal atrophy symptoms, systemic estrogen therapy is not preferred. Vaginal estrogen appears to be more effective than systemic therapy for vaginal atrophy and does not have the risks of systemic effects.

A deficiency in α-galactosidase A would be seen in Fabry disease, an X-linked recessive disorder that results in accumulation of ceramide trihexoside in the skin, heart, kidneys, and CNS. Symptoms include hypohydrosis, angiokeratomas, acroparesthesia, and corneal lesions.

A deficiency in β-glucocerebrosidase would be seen in Gaucher disease, an autosomal recessive disorder that results in the accumulation of glucocerebroside in the brain, liver, and bone marrow. Clinical symptoms vary between Type I (adult form), type II (infant form), and type III (juvenile form) but include hepatosplenomaly and thrombocytopenia.

Major takeaway
Tay-Sachs disease is an autosomal recessive disorder caused by a deficiency in the enzyme hexosaminidase A and an accumulation of GM2 gangliosides. In the infantile form, patients often present with hyperacusis (increased startle reaction), loss of motor skills, macrocephaly, and macular pallor with a cherry-red spot on fundoscopy.
Main explanation
This patient most likely has Tay-Sachs disease, an autosomal recessive disorder caused by a deficiency in the enzyme hexosaminidase A. This enzyme is normally involved in the breakdown of gangliosides, a type of glycolipid that contains neuraminic acid and is found in high concentrations in CNS ganglia. A deficiency in hexosaminidase A leads to an accumulation of GM2 gangliosides, which are toxic to neuronal cells, leading to neurologicaldamage and eventually death.

There are a number of different forms of Tay-Sachs disease. The first is an infantile form that presents with hyperacusis (increased startle reaction), loss of motor skills, macrocephaly, and macular pallor with a cherry-red spot on fundoscopy. In the infantile form, death often results by 3 years of age. The second is a juvenile form, which presents with dementia and ataxia and often results in death by age 15. Finally, adult-onset Tay-Sachs is characterized by spinocerebellar and lower motor neuron symptoms followed by psychosis. Screening for Tay-Sachs disease is currently recommended among Ashkenazi Jews, who have a 1 in 30 chance of being a carrier of the disease allele.

A deficiency in sialidase (or α-N-acetyl neuraminidase) would be seen in sialidosis, an autosomal recessive disorder that results in an accumulation of glycoproteins with siaclic acid moieties. While patients with sialidosis may exhibit a red spot on fundoscopy, they typically have coarse facies, skeletal abnormalities, and hepatosplenomegaly.

A deficiency in sphingomyelinase would be seen in Niemann-Pick disease, an autosomal recessive disorder that results in the accumulation of sphingomyelin in histiocytes (foam cells) of the brain, liver, spleen, bone marrow, and lung. Death often occurs in adolescence from pulmonary disease.

Glioblastomas are high-grade central nervous system tumors that arise from astrocytes. Symptoms include headaches, seizures, focal neurologic deficits, and mental status changes. Imaging findings include a supratentorial solitary brain lesion. Infiltrating white matter tracts involving the corpus callosum, the tumor often produces a “butterfly” pattern.

Primary central nervous system lymphoma affects men more than women and has a higher incidence in AIDS patients. Most cases of primary central nervous system lymphomas present as symptoms related to periventricular lesions in the brain. Presenting symptoms include headaches, blurred vision, motor difficulties, and personality changes

Major takeaway
Meningiomas are most commonly benign primary brain tumors, resulting from growth of the meninges, with a higher incidence in women. Risk factors are radiation, genetic factors (neurofibromatosis type 2), hormonal factors (hormonal anticonceptives), breast cancer, and obesity.
Main explanation
Meningiomas are the most common benign primary brain tumors. They arise anywhere from the dura matter; most commonly within the skull and at sites of dural reflexion. They have a higher incidence in women to men by a 2:1 ratio. Meningiomas are rare in children unless they have a hereditary syndrome such as neurofibromatosis type 2 or the antecedent of radiation therapy. The risk factors for meningiomas are radiation, genetic factors, hormonal factors, breast cancer, and obesity.

The clinical presentation of this tumor is variable depending on the location of the tumor and the time course over which the tumor develops. Among the most common symptoms are headaches, seizures, visual changes, hearing loss, weakness of the extremities, obstructive hydrocephalus, and spontaneous hemorrhage. On MRI, a typical meningioma is isointense or hypointense to gray matter on T1. Most meningiomas show the tail sign, which is a marginal dural thickening which tapers peripherally.

Neurologic complications occur in approximately 5% of patients with sarcoidosis. Neurosarcoidosis is a possible diagnosis in patients with known sarcoidosis who develop neurologic complaints. Any portion of the central nervous system or peripheral nervous system may be involved. Common syndromes include: cranial mononeuropathy, neuroendocrine dysfunction, myelopathy or radiculopathy, and hydrocephalus.

Central nervous system tuberculosis may present in three different ways: meningitis, intracranial tuberculoma, and spinal tuberculous arachnoiditis. Meningitis develops as a complication of post-primary infection in infants and young children and from chronic reactivation bacillemia in adults with immune deficiency.

Hyperphagia and hypersomnia are symptoms of major depressive disorder with typical features along with sensitivity to rejection and a heavy leaden feeling in limbs. They can also be symptoms of several medical conditions.

Depression and suicidal thoughts are symptoms seen in various mood disorders and in the depression associated with psychosis.They can also be associated with anxiety disorders and substance-induced mood disorders.

Major takeaway
Post-traumatic stress disorder is characterized by intrusive thoughts, nightmares, and flashbacks of a past traumatic event. Symptoms can include insomnia, avoidance of any reminders of the trauma, and hyper-vigilance.
Main explanation
The patient is experiencing symptoms of acute post-traumatic stress disorder (PTSD). PTSD is an intense, delayed, prolonged reaction to an exceptionally stressful event. The event is likely to have caused pervasive distress in almost anyone and usually involved the thread of severe injury or death. Symptoms of PTSD usually occur within six months of the event and include the persistent re-experience of the traumatic event via flashbacks, nightmares, increased arousal, and avoidance of stimuli associated with trauma. The symptoms are of less than 3 months of duration for the acute diagnosis of PTSD, and the disturbances cause significant social or occupational impairment. Confusion and disorientation are symptoms usually seen in cognitive disorders, such as delirium, dementia, but can also be seen as a part of psychotic disorders.

Euphoria and racing thoughts are usually symptoms of bipolar disorder (manic or mixed type) or schizoaffective disorder. These symptoms can also be seen with substance abuse.

Confusion and disorientation are symptoms usually seen in cognitive disorders (delirium, dementia) but can also be seen as a part of psychotic disorders.

A disorder arising from the death of neurons causing weakness or atrophy in the arms or legs, later progressing to difficulty moving, swallowing (dysphagia) and speaking (dysarthria).

Caused by tumor, trauma, infection or ischaemia that damages one half of the spinal cord, resulting in ipsilateral proprioceptionimpairment.

Discitis is an infection in the intervertebral disc space that affects different age groups. In adults, it can lead to sepsis or cause an epidural abscess but can also spontaneously resolve. Symptoms include severe back pain, leading to lack of mobility.

Major takeaway
Tabes dorsalis literally means “decay of the back”, i.e. degeneration of the dorsal roots and dorsal column of the spinal cord. It is characterized by the triad of unsteadiness, severe lightning-like pains, and urinary incontinence.

Main explanation
Also known as syphilitic myelopathy, tabes dorsalis literally means “decay of the back”, i.e. degeneration of the dorsal roots and dorsal column. It is characterized by the triad of unsteadiness, severe lightning-like pains, and urinary incontinence. In tabes dorsalis, syphiliticinfection causes degeneration of the dorsal roots and dorsal columns of the spinal cord. It is considered a tertiary form of neurosyphilis. Due to the lack of proprioception, the person will lift their knees too high and slap their feet down, placing them irregularly and on a broad base. This is because of a sensory ataxia; the person does not know where his legs are located. To compensate the lack of proprioception, the patient uses visual cues to stand, which is why patients without proprioception lose their balance after closing their eyes during the Romberg test.

Transverse myelitis is a neurological condition in which the spinal cord nerve fibers lose their myelin coating, leading to decreased electrical conductivity. A lesion of the lower part of the spinal cord (L1–S5) often produces a combination of upper and lower motor neuron signs in the lower limbs.

HPV types 6 and 11 are associated with the development of genital warts, also called condyloma acuminatum, not vulvar cancer.

Major takeaway
Human papilloma virus (HPV) infection with serotypes 16, 18, and 31 are associated with increased risk of vulvar carcinoma in addition to cervical cancer.
Main explanation
Human papilloma virus (HPV) types 16, 18 and 31 are associated with vulvar cancer. Other risk factors for the development of vulvar cancer include lichen sclerosus, diabetes, obesity, and cardiovascular disease. Cigarette smoking has also been consistently linked to contractionof HPV and the development of related pathologies. While one might speculate that smoking, particularly at a young age, may lead to more risky behaviors that predispose a patient to contracting HPV, the reason for the association has not been concretely elucidated. Presentation of the lesions varies but may include pruritus, pain, or an ulcerative lesion. Diagnostic work-up includes a punch biopsy of the lesion. Treatment varies by grade and includes laser ablation or vulvectomy for more advanced lesions. Invasive disease is treated with radical vulvectomy and regional lymphadenectomy with or without chemotherapy/radiation.

HPV type 30 is responsible for a small percentage of genital warts, not vulvar cancer. It is not a commonly tested strain.

HPV types 6 and 11 are associated with the development of genital warts, also called condyloma acuminatum, not vulvar cancer.

HPV type 8 is not associated with the development of vulvar cancer. It is associated with the development of warts on the extremities.

Ovarian cyst accident is a painful condition which occurs in fertile women. The pain is characteristically in the right or left lower quadrant. This condition would not cause abdominal distension or high-pitched bowel sounds.

The initial symptoms are not consistent with early presentations of peptic ulcer perforation. This would classically be epigastric pain, and there would likely be signs of peritonism. Bowel sounds are not high-pitched in ruptured peptic ulcer.

Major takeaway
Intestinal obstruction commonly occurs due to adhesion formation following abdominal and pelvic surgeries. Characteristic signs are abdominal distension, and high-pitched bowel sounds.
Main explanation
Intestinal obstruction characteristically causes nausea and vomiting, abdominal distention, constipation and colicky abdominal pain. Obstruction can be caused by many pathologies such as intussusception, volvulus, hernia, inflammatory bowel diseases, impaction of feces, and the formation of adhesions following surgery. The formation of adhesions is the cause in this case, and is also the most common cause. Bowel obstruction is diagnosed clinically, with the aid of radiology namely abdominal X-ray, and abdominal CT.

Strangulation refers to disruption of arterial or venous flow resulting in ischemia of intestinaltissues. This brings about chronic abdominal pain. Strangulation is a surgical emergency and upon diagnosis, has to be managed by performing immediate laparotomy and relieving surgery.

This is an important differential diagnosis in any woman of reproductive age. It is important to always ask a sexual history and obtain a beta-hCG level. Ectopic pregnancy would not cause high-pitched bowel sounds.

The absence of fever effectively rules out pyelonephritis (kidney infection). The abdominal pain caused by pyelonephritischaracteristically occurs in the flanks rather than the lower quadrants.

Gonococcal urethritis is caused by Neisseria gonorrhoeae and is a sexually transmitted disease. It presents with urethral discharge but would not have the other physical exam or wet mount findings noted above.

Presents with frothy, green vaginal discharge as well as itching or burning. Wet mount would reveal motile trichomonads and white blood cells, and the vaginal pH would be increased.

Major takeaway
Bacterial vaginosis often presents with thin, gray-white vaginal discharge and fishy smelling vaginal discharge. Diagnosis is confirmed by the presence of clue cells on wet mount, a positive “whiff” test, and an increase in vaginal pH (>4.5). It is easily treated with metronidazole.
Main explanation
This patient has bacterial vaginosis, a common condition due to vaginal overgrowth of the bacterium Gardnerella vaginalis. It occurs most often in sexually active women but is not a sexually transmitted disease. Vaginal douching and intrauterine contraceptive devices increase the risk of developing this condition. The condition may be asymptomatic and identified on cervical screening. In this situation no treatment is required. Symptomatic patients, usually describing change in type and smell of discharge, should be treated. The diagnosis of bacterial vaginosis is made when 3 of the 4 Amsel criteria are met. The Amsel criteria are as follows:
1. Thin, gray-white or yellow vaginal homogenous discharge
2. Clue cells (vaginal epithelial cells with adherent bacteria) on microscopy
3. Vaginal fluid pH > 4.5
4. A fishy odor upon addition of alkali (ie. KOH)
Bacterial vaginosis is easily treated with Metronidazole. It is important to instruct patients to avoid alcohol when taking metronidazole as the two interact.

This is a fungal infection due to Candida albicans and presents with curdy, white vaginal discharge. Vaginal pH is normal. KOH prep would reveal pseudohyphae and wet mount would show white blood cells.

Copious vaginal discharge that is white or yellow, non-malodorous, and occurs in absence of other symptoms or physical exam findings ((ie. itching, burning, erythema, edema) is referred to as physiologic leukorrhea.