Incorrect
• Achilles tendinopathy/tendinitis is a clinical diagnosis. Tenderness approximately 2-6cm above
the posterior calcaneus, or proximal to the insertion of the tendon on the calcaneus.
• Subcutaneous calcaneal bursitis is swelling and tenderness at the calcaneal prominence (Achilles
tendon insertion point). Associated with swelling, warmth and erythema.
• Calcaneal apophysitis (Sever disease) causes posterior heel pain and tenderness. Seen in children
and adolescence (growth period), associated with running and jumping sports.
• For ppts who are in the active stage of smoking cessation but struggling with relapses, a powerful
behavioral strategy is to identify habitual triggers for smoking (esp for the 1st cigarette of the day)
and then link them to alternative distracting activities.
• Psychotherapy is the 1st line treatment for adjustment disorders.
• Rocky Mountain spotted fever caused by Rickettsia rickettsii causes maculopapular or petechial
rash that involves the palms/soles, minimal leukocytosis on lumbar puncture, life threatening
noncardiogenic pulmonary edema. Resembles a viral illness
• ALL presents in aldolescents with anterior mediastinal mass with pancytopenia,
hepatosplenomegaly and testicular enlargement. Compression of mediastinal structures can cause
JVD, dyspnea.
• Follicular lymphoma seen in older ppts with months or years of waxing and waning
lymphadenopathy. B symptoms & lab abnormalities are rare but mediastinal & hilar
lymphadenopathy is sometimes seen. BCL-2 gene overexpression.
• Hypotonia, poor muscle tone, weak suck, upslanting palpebral fissures, protruding tongue and a
single palmar crease is seen in Down syndrome.
• Hypotonia, oculobulbar weakness (ptosis), descending paralysis following honey ingestion or
dust containing C.Botulinum is seen in infant botulism.
• Gallstones don’t cause positive stool guaiac.
• H pylori causes peptic ulcer disease. Presents with dyspepsia, postprandial fullness & nausea, and
GI bleed, worsening pain during fasting and nocturnal pain can also occur.
• Chronic suppurative otitis media is proceded by an episode of acute otitis media and is chronic
(>6 weeks), purulent otorrhea with tympanic membrane perforation. Treatment is an ototopical
fluoroquinolone to target the most common pathogens, S Aureus and Pseudomonas.
• Perioperative MI lacks chest pain due to postoperative pain management. Ppts develop
cardiogenic shock due to LV systolic dysfunction, low cardiac index and high PCWP.
• Functional constipation in infants presents after the introduction of solid foods and without alarm
signs. Initial treatment is nondigestible osmotically active carbohydrates (fruit juice/puree or
sorbitol).
• Friedreich Ataxia = adolescents with gait ataxia (cerebellar ataxia, dysarthria, loss of vibration &
proproception, absent reflexes), scoliosis, DM & HOCM. HOCM is the cause of death.
• Pure motor stroke = internal capsule
• Syringomyelia = Arnold-Chiari I
• Risk factors associated with curve progression in scoliosis are female sex, age<12, premenarchal
status, skeletal immaturity and initial severe curvature.
• A confidence interval with a greater confidence level is always wider than a CI with a lower
confidence level for the same data. A CI for a difference in means is significant if the interval
excludes the null value (0) and it is not significant if the interval includes the null value.
Page 1 of 40
,• Patients with a history of acute rheumatic fever are at risk of progressive rheumatic heart disease
from recurrent group A Strep pharyngitis. Treatment with penicillin prophylaxis prevents Strep
infections and limits the progression of heart disease.
• In acutely ill patients, thyroid function tests are often abnormal, characterised by low T3 levels
with low-normal TSH and T4. No treatment is required, but the tests should be repeated following
recovery to ensure normalised. No additional testing is required, serum free T3 and reverse T3
tests can be unreliable in severe illness due to rapidly fluctuating levels.
• Menopause symptoms are treated with estrogen & progesterone therapy if the uterus is present.
Estrogen only therapy (transdermal patch) in patients without a uterus.
• A urethral diverticulum causes dysuria, postvoid dribbling of urine, dyspareunia, and a tender
anterior vaginal wall mass that expresses a purulent or bloody urethral discharge.
• Familial adenomatous polyposis results from a mutation in the APC gene, leading to the
development of innumerable colon adenomatous and early colon cancer (<40). Management
includes annual colonoscopy starting at puberty and prophylactic colectomy, which is usually
performed in a patient’s teens to early 20s but should be performed at any age in those with large
or innumerable polyps, bleeding or high-grade dysplasia.
• Influenza virus causes primary influenza pneumonia, seen in winter, presents with mild
leukocytosis (<15,000) and bilateral, diffuse reticular infiltrates on chest x-ray. Most patients
recover spontaneously within a week but patients with advanced age & chronic medical illness
(DM, CAD) can develop complications. Tx is supportive with oxygen or antiviral (oseltamivir).
• S. Pneumoniae, S. Aureus and Pseudomonas are causes of secondary bacterial pneumonia.
Presents with high leukocytosis (>15,000) and lobar infiltrates on chest x-ray.
• Elderly, depressed patients can have significant cognitive impairment that may be mistaken for a
dementing syndrome. However, unlike most dementias, depression-related cognitive impairment
is reversible with treatment of the underlying depressive syndrome. They will present with signs
of MDD in an acute onset but they will still have a low MMSE score. Alzheimer’s dementia
follows an insidious course, developing over months to years.
• MDD can be diagnosed if depressive symptoms follow the loss of a loved one. Compared to
normal grief, MDD is associated with more persistent and pervasive sadness, feelings of
hopelessness and worthlessness, and suicidal ideation. Adjustment disorder with depressive mood
is only diagnosed if the criteria of MDD hasn’t been met.
• Normal pregnancy can cause trace proteinuria, but creatinine is expected to decline. During
normal pregnancy, renal perfusion and GFR increase and the GBM becomes more permeable to
proteins.
• Pregnancy can worsen diabetic kidney disease, leading to HTN, elevated Cr, and frank
proteinuria. Preeclampsia also causes HTN & proteinuria but occurs later in pregnancy; findings
prior to 20 weeks gestation are usually due to pre-existing nephropathy.
• Torsade de pointes, prolonged QT interval, treatment in unstable patients is cardioversion,
treatment in stable patients is magnesium.
• H. Ducreyi (chancroid) causes one or more papules that develop into pustules then large, deep
genital ulcers with a gray/yellow exudate and a friable base. It is associated with regional
lymphadenopathy, intense pruritus and systemic symptoms. HSV causes shallow, small and
tender ulcerated lesions; it is painful, pruritic with inguinal lymphadenopathy.
• Vaginal erosions can develop from frictional trauma as the prolapsed vaginal wall protrudes past
the hymenal ring, rubs against clothing and becomes denuded and friable. These shallow
epidermal defects are prone to bleeding but heal without scarring once the inciting factor has been
removed. This is seen in uterine pelvic organ prolapse. Risk factors include obesity, multiparty,
hysterectomy and menopause.
Page 2 of 40
,• Thalassemia minor is usually asymptomatic and no treatment is required. Patients typically have
mild anemia, low MCV and target cells.
• Beta thalassemia can be differentiated from alpha thalassemia by high HbA2.
• The heterophile antibody (Monospot) test is specific for EBV and detects EBV antibodies that
agglutinate to horse RBC. Results may be negative early in the course of the illness, especially
during the first week of symptoms. A negative test doesn’t exclude the diagnosis of IM.
• Viral gastroenteritis is acute-onset, no bloody diarrhoea with abdominal pain, low-grade fever and
vomiting. Most cases resolve within 2-3 days. Management is fluid depletion; oral rehydration for
mild to moderate dehydration, whereas IV fluids for severe dehydration.
• Subgaleal hemorrhage is caused by the shearing of veins between the dural sinuses and scalp due
to scalp traction during delivery. Blood accumulates between the periosteum and galea
aponeurotica, causing diffuse, fluctuating scalp swelling. Rapid hemorrhage expansion can lead to
hypovolemic shock, DIC and death. Similar to Subdural hematoma with tearing of the bridging
veins.
• Cephalohematoma is bleeding between the skull and periosteum due to subperiosteal vessel
rupture. Presents as a firm, nonfluctuant swelling that doesn’t cross suture lines or lead to
significant blood loss. Similar to epidural hematoma.
• Numbness in the medial hand, decreased grip strength, and weaker wrist flexion confirms ulnar
nerve injury at the elbow rather than the wrist.
• Klumpke palsy is a rare complication of shoulder dystopia caused by injury to the 8th cervical
and 1st thoracic nerves. The presentation can include hand paralysis (claw hand) and ipsilateral
Horner syndrome.
• Erb-Duchenne palsy involves the 5th & 6th cervical nerves leading to the waiter’s tip posture
• Dilated pupils, hyperreflexia and hyperthermia is consistent with serotonin syndrome and not an
MAOI-associated hypertensive crisis.
• Transient tachypnea of the newborn is a self-limited condition caused by delayed resorption and
clearance of pulmonary fluid and is more common in infants delivered by cesarean section.
Infants present shortly after birth with respiratory distress and fluid in the interlobar fissures on
chest x ray.
• NRDS shows low lung volumes, ground-glass opacities, and air bronchograms on chest x ray.
• Airborne precautions are taken for TB, VZV, HSV and measles (rubeola); this is because viral
particles are microscopic (<5 microns) and remain suspended in the air for prolonged periods.
• Cor pulmonale is impaired function of the RV due to pulmonary HTN that occurs due to chronic
lung disease. Presents with elevated JVD, RV 3rd heart sound, tricuspid regurgitation,
hepatomegaly with pulsatile liver, lower extremity edema, ascites and pleural effusions. ECHO
shows signs of increased RH pressures and RH catheterization will show pulmonary systolic
pressure >25mmHg.
• Temporomandibular joint disorder can result in referred pain to the ear that is worse with
chewing. Patients typically have a history of nocturnal teeth grinding (bruxism).
• HHS is characterized by severe hyperglycemia and hyperosmolarity, AMS, and normal anion gap.
Osmotic diuresis leads to marked deficits in total body water; therefore, treatment should begin
with immediate IV fluid resuscitation with normal saline. Then IV regular insulin.
• Subclinical hypothyroidism is associated with an increased risk for recurrent pregnancy loss
(RPL), and the risk is greater in those with high titers of antithyroid peroxidase (anti-TPO)
antibodies. Treatment with levothyroxine is recommended in patients with RPL who have
subclinical hypothyroidism and elevated anti-TPO antibodies.
• Physiologic GERD is common in the first 6 months of life and characterized by infants who are
“happy spitters” with normal weight gain and examination. Management is reassurance and
Page 3 of 40
, continued breastfeeding. Pathological GERD presents with irritability, poor feeding and weight
loss.
• Thrombosed external hemorrhoids usually appear as purple or blue masses below the dentate line,
and they cause severe pain. Although conservative management (fiber, NSAIDs & antispasmodic
drugs) is sufficient in most cases, patients with severe and/or worsening pain who present within
72hrs should undergo hemorrhoidectomy.
• Intermittent vaginal leakage or wetness may be present in patients with either PROM or stress
urinary incontinence. If no fluid emerges from the cervix on Valsalva maneuver and nitrazine &
fern testing is negative = stress urinary incontinence.
• The initial approach to patients with acute stress disorder is to educate them on the range of
reactions to trauma. Trauma-focused CBT can be beneficial for patients with severe and persistent
symptoms.
• Exposure therapy is the treatment of Specific phobia.
• Recurrent spontaneous anxiety attacks and development of avoidance behavior is consistent with
panic disorder.
• Language disorder is common and characterized by persistent difficulties in the acquisition and
use of language due to deficits in comprehension and/or production. Typical signs include limited
vocabulary, sentence structure and functional use of language.
• Gaucher disease is a lysosomal storage disease that can present from infancy to adulthood and is
due to glucocerebroside accumulation in macrophages of the bones, liver and spleen. Results in
cytopenias, bone pain and hepatosplenomegaly. Poor growth and pubertal delay are other
common findings in children.
• Franconi anemia causes short stature and anemia. Pancytopenia is common but splenomegaly is
atypical. Diagnosis is typically in early childhood due to associated congenital malformations
(hypoplastic thumbs) and developmental delays.
• Family history stratifies the risk for ovarian cancer. For low- or average-risk patients, ovarian
cancer screening is not indicated because it is ineffective for early diagnosis or reduction in
mortality.
• A high-grade squamous intraepithelial lesion on Pap test in pregnancy requires colposcopic exam
and biopsy of cervical abnormalities due to the high risk for progression to cervical cancer.
• Occlusion of an anal crypt gland can lead to a bacterial overgrowth and perinatal abscess
formation. Perinatal abscesses often present as tender, fluctuant, erythematous masses causing
progressively worsening pain. Prompt incision and drainage are necessary to prevent spread to
deeper structures or systemic infection.
• Internal carotid artery dissection is a common cause of stroke in young patients and can occur
spontaneously or after mild trauma or illness. It is typically characterized by partial Horner
syndrome (ptosis and miosis without anhidrosis), unilateral headache and neck pain, and cerebral
ischemia (TIA or stroke).
• Unruptured intracranial aneurysm is typically asymptomatic but can cause headache, 3rd nerve
palsy, facial pain and pupillary dilation; weakness and neck pain is unexpected.
• Tourette syndrome is associated with the development of ADHD and/or OCD.
• A patient with suspected ASD requires a detailed diagnostic assessment as soon as possible
because early intervention can improve outcomes. Although family history is a risk factor for
developmental abnormalities, any identified delays still require thorough evaluation.
• The 3 most common causes of chronic cough are postnasal drip, asthma, and GERD. The
diagnosis of postnasal drip is confirmed by the elimination of nasal discharge and cough with the
use of H1 blocker.
Page 4 of 40
• Achilles tendinopathy/tendinitis is a clinical diagnosis. Tenderness approximately 2-6cm above
the posterior calcaneus, or proximal to the insertion of the tendon on the calcaneus.
• Subcutaneous calcaneal bursitis is swelling and tenderness at the calcaneal prominence (Achilles
tendon insertion point). Associated with swelling, warmth and erythema.
• Calcaneal apophysitis (Sever disease) causes posterior heel pain and tenderness. Seen in children
and adolescence (growth period), associated with running and jumping sports.
• For ppts who are in the active stage of smoking cessation but struggling with relapses, a powerful
behavioral strategy is to identify habitual triggers for smoking (esp for the 1st cigarette of the day)
and then link them to alternative distracting activities.
• Psychotherapy is the 1st line treatment for adjustment disorders.
• Rocky Mountain spotted fever caused by Rickettsia rickettsii causes maculopapular or petechial
rash that involves the palms/soles, minimal leukocytosis on lumbar puncture, life threatening
noncardiogenic pulmonary edema. Resembles a viral illness
• ALL presents in aldolescents with anterior mediastinal mass with pancytopenia,
hepatosplenomegaly and testicular enlargement. Compression of mediastinal structures can cause
JVD, dyspnea.
• Follicular lymphoma seen in older ppts with months or years of waxing and waning
lymphadenopathy. B symptoms & lab abnormalities are rare but mediastinal & hilar
lymphadenopathy is sometimes seen. BCL-2 gene overexpression.
• Hypotonia, poor muscle tone, weak suck, upslanting palpebral fissures, protruding tongue and a
single palmar crease is seen in Down syndrome.
• Hypotonia, oculobulbar weakness (ptosis), descending paralysis following honey ingestion or
dust containing C.Botulinum is seen in infant botulism.
• Gallstones don’t cause positive stool guaiac.
• H pylori causes peptic ulcer disease. Presents with dyspepsia, postprandial fullness & nausea, and
GI bleed, worsening pain during fasting and nocturnal pain can also occur.
• Chronic suppurative otitis media is proceded by an episode of acute otitis media and is chronic
(>6 weeks), purulent otorrhea with tympanic membrane perforation. Treatment is an ototopical
fluoroquinolone to target the most common pathogens, S Aureus and Pseudomonas.
• Perioperative MI lacks chest pain due to postoperative pain management. Ppts develop
cardiogenic shock due to LV systolic dysfunction, low cardiac index and high PCWP.
• Functional constipation in infants presents after the introduction of solid foods and without alarm
signs. Initial treatment is nondigestible osmotically active carbohydrates (fruit juice/puree or
sorbitol).
• Friedreich Ataxia = adolescents with gait ataxia (cerebellar ataxia, dysarthria, loss of vibration &
proproception, absent reflexes), scoliosis, DM & HOCM. HOCM is the cause of death.
• Pure motor stroke = internal capsule
• Syringomyelia = Arnold-Chiari I
• Risk factors associated with curve progression in scoliosis are female sex, age<12, premenarchal
status, skeletal immaturity and initial severe curvature.
• A confidence interval with a greater confidence level is always wider than a CI with a lower
confidence level for the same data. A CI for a difference in means is significant if the interval
excludes the null value (0) and it is not significant if the interval includes the null value.
Page 1 of 40
,• Patients with a history of acute rheumatic fever are at risk of progressive rheumatic heart disease
from recurrent group A Strep pharyngitis. Treatment with penicillin prophylaxis prevents Strep
infections and limits the progression of heart disease.
• In acutely ill patients, thyroid function tests are often abnormal, characterised by low T3 levels
with low-normal TSH and T4. No treatment is required, but the tests should be repeated following
recovery to ensure normalised. No additional testing is required, serum free T3 and reverse T3
tests can be unreliable in severe illness due to rapidly fluctuating levels.
• Menopause symptoms are treated with estrogen & progesterone therapy if the uterus is present.
Estrogen only therapy (transdermal patch) in patients without a uterus.
• A urethral diverticulum causes dysuria, postvoid dribbling of urine, dyspareunia, and a tender
anterior vaginal wall mass that expresses a purulent or bloody urethral discharge.
• Familial adenomatous polyposis results from a mutation in the APC gene, leading to the
development of innumerable colon adenomatous and early colon cancer (<40). Management
includes annual colonoscopy starting at puberty and prophylactic colectomy, which is usually
performed in a patient’s teens to early 20s but should be performed at any age in those with large
or innumerable polyps, bleeding or high-grade dysplasia.
• Influenza virus causes primary influenza pneumonia, seen in winter, presents with mild
leukocytosis (<15,000) and bilateral, diffuse reticular infiltrates on chest x-ray. Most patients
recover spontaneously within a week but patients with advanced age & chronic medical illness
(DM, CAD) can develop complications. Tx is supportive with oxygen or antiviral (oseltamivir).
• S. Pneumoniae, S. Aureus and Pseudomonas are causes of secondary bacterial pneumonia.
Presents with high leukocytosis (>15,000) and lobar infiltrates on chest x-ray.
• Elderly, depressed patients can have significant cognitive impairment that may be mistaken for a
dementing syndrome. However, unlike most dementias, depression-related cognitive impairment
is reversible with treatment of the underlying depressive syndrome. They will present with signs
of MDD in an acute onset but they will still have a low MMSE score. Alzheimer’s dementia
follows an insidious course, developing over months to years.
• MDD can be diagnosed if depressive symptoms follow the loss of a loved one. Compared to
normal grief, MDD is associated with more persistent and pervasive sadness, feelings of
hopelessness and worthlessness, and suicidal ideation. Adjustment disorder with depressive mood
is only diagnosed if the criteria of MDD hasn’t been met.
• Normal pregnancy can cause trace proteinuria, but creatinine is expected to decline. During
normal pregnancy, renal perfusion and GFR increase and the GBM becomes more permeable to
proteins.
• Pregnancy can worsen diabetic kidney disease, leading to HTN, elevated Cr, and frank
proteinuria. Preeclampsia also causes HTN & proteinuria but occurs later in pregnancy; findings
prior to 20 weeks gestation are usually due to pre-existing nephropathy.
• Torsade de pointes, prolonged QT interval, treatment in unstable patients is cardioversion,
treatment in stable patients is magnesium.
• H. Ducreyi (chancroid) causes one or more papules that develop into pustules then large, deep
genital ulcers with a gray/yellow exudate and a friable base. It is associated with regional
lymphadenopathy, intense pruritus and systemic symptoms. HSV causes shallow, small and
tender ulcerated lesions; it is painful, pruritic with inguinal lymphadenopathy.
• Vaginal erosions can develop from frictional trauma as the prolapsed vaginal wall protrudes past
the hymenal ring, rubs against clothing and becomes denuded and friable. These shallow
epidermal defects are prone to bleeding but heal without scarring once the inciting factor has been
removed. This is seen in uterine pelvic organ prolapse. Risk factors include obesity, multiparty,
hysterectomy and menopause.
Page 2 of 40
,• Thalassemia minor is usually asymptomatic and no treatment is required. Patients typically have
mild anemia, low MCV and target cells.
• Beta thalassemia can be differentiated from alpha thalassemia by high HbA2.
• The heterophile antibody (Monospot) test is specific for EBV and detects EBV antibodies that
agglutinate to horse RBC. Results may be negative early in the course of the illness, especially
during the first week of symptoms. A negative test doesn’t exclude the diagnosis of IM.
• Viral gastroenteritis is acute-onset, no bloody diarrhoea with abdominal pain, low-grade fever and
vomiting. Most cases resolve within 2-3 days. Management is fluid depletion; oral rehydration for
mild to moderate dehydration, whereas IV fluids for severe dehydration.
• Subgaleal hemorrhage is caused by the shearing of veins between the dural sinuses and scalp due
to scalp traction during delivery. Blood accumulates between the periosteum and galea
aponeurotica, causing diffuse, fluctuating scalp swelling. Rapid hemorrhage expansion can lead to
hypovolemic shock, DIC and death. Similar to Subdural hematoma with tearing of the bridging
veins.
• Cephalohematoma is bleeding between the skull and periosteum due to subperiosteal vessel
rupture. Presents as a firm, nonfluctuant swelling that doesn’t cross suture lines or lead to
significant blood loss. Similar to epidural hematoma.
• Numbness in the medial hand, decreased grip strength, and weaker wrist flexion confirms ulnar
nerve injury at the elbow rather than the wrist.
• Klumpke palsy is a rare complication of shoulder dystopia caused by injury to the 8th cervical
and 1st thoracic nerves. The presentation can include hand paralysis (claw hand) and ipsilateral
Horner syndrome.
• Erb-Duchenne palsy involves the 5th & 6th cervical nerves leading to the waiter’s tip posture
• Dilated pupils, hyperreflexia and hyperthermia is consistent with serotonin syndrome and not an
MAOI-associated hypertensive crisis.
• Transient tachypnea of the newborn is a self-limited condition caused by delayed resorption and
clearance of pulmonary fluid and is more common in infants delivered by cesarean section.
Infants present shortly after birth with respiratory distress and fluid in the interlobar fissures on
chest x ray.
• NRDS shows low lung volumes, ground-glass opacities, and air bronchograms on chest x ray.
• Airborne precautions are taken for TB, VZV, HSV and measles (rubeola); this is because viral
particles are microscopic (<5 microns) and remain suspended in the air for prolonged periods.
• Cor pulmonale is impaired function of the RV due to pulmonary HTN that occurs due to chronic
lung disease. Presents with elevated JVD, RV 3rd heart sound, tricuspid regurgitation,
hepatomegaly with pulsatile liver, lower extremity edema, ascites and pleural effusions. ECHO
shows signs of increased RH pressures and RH catheterization will show pulmonary systolic
pressure >25mmHg.
• Temporomandibular joint disorder can result in referred pain to the ear that is worse with
chewing. Patients typically have a history of nocturnal teeth grinding (bruxism).
• HHS is characterized by severe hyperglycemia and hyperosmolarity, AMS, and normal anion gap.
Osmotic diuresis leads to marked deficits in total body water; therefore, treatment should begin
with immediate IV fluid resuscitation with normal saline. Then IV regular insulin.
• Subclinical hypothyroidism is associated with an increased risk for recurrent pregnancy loss
(RPL), and the risk is greater in those with high titers of antithyroid peroxidase (anti-TPO)
antibodies. Treatment with levothyroxine is recommended in patients with RPL who have
subclinical hypothyroidism and elevated anti-TPO antibodies.
• Physiologic GERD is common in the first 6 months of life and characterized by infants who are
“happy spitters” with normal weight gain and examination. Management is reassurance and
Page 3 of 40
, continued breastfeeding. Pathological GERD presents with irritability, poor feeding and weight
loss.
• Thrombosed external hemorrhoids usually appear as purple or blue masses below the dentate line,
and they cause severe pain. Although conservative management (fiber, NSAIDs & antispasmodic
drugs) is sufficient in most cases, patients with severe and/or worsening pain who present within
72hrs should undergo hemorrhoidectomy.
• Intermittent vaginal leakage or wetness may be present in patients with either PROM or stress
urinary incontinence. If no fluid emerges from the cervix on Valsalva maneuver and nitrazine &
fern testing is negative = stress urinary incontinence.
• The initial approach to patients with acute stress disorder is to educate them on the range of
reactions to trauma. Trauma-focused CBT can be beneficial for patients with severe and persistent
symptoms.
• Exposure therapy is the treatment of Specific phobia.
• Recurrent spontaneous anxiety attacks and development of avoidance behavior is consistent with
panic disorder.
• Language disorder is common and characterized by persistent difficulties in the acquisition and
use of language due to deficits in comprehension and/or production. Typical signs include limited
vocabulary, sentence structure and functional use of language.
• Gaucher disease is a lysosomal storage disease that can present from infancy to adulthood and is
due to glucocerebroside accumulation in macrophages of the bones, liver and spleen. Results in
cytopenias, bone pain and hepatosplenomegaly. Poor growth and pubertal delay are other
common findings in children.
• Franconi anemia causes short stature and anemia. Pancytopenia is common but splenomegaly is
atypical. Diagnosis is typically in early childhood due to associated congenital malformations
(hypoplastic thumbs) and developmental delays.
• Family history stratifies the risk for ovarian cancer. For low- or average-risk patients, ovarian
cancer screening is not indicated because it is ineffective for early diagnosis or reduction in
mortality.
• A high-grade squamous intraepithelial lesion on Pap test in pregnancy requires colposcopic exam
and biopsy of cervical abnormalities due to the high risk for progression to cervical cancer.
• Occlusion of an anal crypt gland can lead to a bacterial overgrowth and perinatal abscess
formation. Perinatal abscesses often present as tender, fluctuant, erythematous masses causing
progressively worsening pain. Prompt incision and drainage are necessary to prevent spread to
deeper structures or systemic infection.
• Internal carotid artery dissection is a common cause of stroke in young patients and can occur
spontaneously or after mild trauma or illness. It is typically characterized by partial Horner
syndrome (ptosis and miosis without anhidrosis), unilateral headache and neck pain, and cerebral
ischemia (TIA or stroke).
• Unruptured intracranial aneurysm is typically asymptomatic but can cause headache, 3rd nerve
palsy, facial pain and pupillary dilation; weakness and neck pain is unexpected.
• Tourette syndrome is associated with the development of ADHD and/or OCD.
• A patient with suspected ASD requires a detailed diagnostic assessment as soon as possible
because early intervention can improve outcomes. Although family history is a risk factor for
developmental abnormalities, any identified delays still require thorough evaluation.
• The 3 most common causes of chronic cough are postnasal drip, asthma, and GERD. The
diagnosis of postnasal drip is confirmed by the elimination of nasal discharge and cough with the
use of H1 blocker.
Page 4 of 40
