CA LÂM SÀNG 25

Patients, or patients’ families, tend to report memory problems before language difficulties, visuospatial decline or aparaxias. None of these are reported in this case.

Major takeaway
Lewy body dementia presents with signs similar to Parkinson’s Disease, but cognitive symptoms precede the motor symptoms. Patients with LBD often have marked visual hallucinations and Parkinsonian-like features.
Main explanation
Lewy body dementia (LBD) accounts for about 4% of dementiacases. It has symptoms similar to that of Parkinson’s disease – with both cognitive and motor signs, however, in LBD the cognitive signs precede the motor signs, while the opposite is true for Parkinson’s disease. Late in the progression of the disease, it is difficult to distinguish Lewy body dementia and Parkinson’s disease.

With Lewy body dementia patients can have fluctuations in cognition, often mistaken for delirium. They also characteristically have marked visual hallucinations.

Dementia with Lewy bodies can be thought of as axial Parkinson disease with visual hallucinations (some patients’ families also report delusions). It tends to include axial more often than appendicular instability hence the instability with standing/sitting in this case and and no mention of the classic resting tremor. Apathy can also be seen in both diagnoses.

Acting out usually consists of more benign behavioral outbursts. If the child is destroying property and hurting others then it’s most likely conduct disorder. An example of acting outwould be interrupting a teacher during class or refusing to listen to a parent.

Oppositional defiance differs from conduct disorder in that kids with OD are not aggressive towards people and animals.

Peptic ulcer disease is a break in the lining of the stomach, first part of the small intestine, or occasionally the lower esophagus. The most common symptoms are waking at night with upper abdominal pain or upper abdominal pain that improves with eating, belching, vomiting, weight loss, or poor appetite.

Acute liver failure is the appearance of severe complications rapidly after the first signs of liver disease and indicates that the liver has sustained severe damage (loss of function of 80–90% of liver cells). The complications are hepatic encephalopathy and impaired protein synthesis.

A gallstone is a stone formed within the gallbladder out of bile components. Cholelithiasis is the presence of stones in the gallbladder or the diseases caused by gallstones. Most people with gallstones (about 80%) never have symptoms. In 1–4% of those with gallstones a biliary colic occurs each year.

Gastritis is inflammation of the lining of the stomach. It may occur as a short episode or may be of a long duration. The most common symptom is upper abdominal pain. Other symptoms include nausea, vomiting, bloating, loss of appetite, and heartburn.

Major takeaway
Pancreas divisum results from a failure of the dorsal and ventral pancreatic buds to fuse correctly, often resulting in 2 separate ducts. Majority of patients do not have symptoms and a few develop symptoms which commonly include abdominal pain, nausea, vomiting, and acute or chronic pancreatitis.
Main explanation
Pancreas divisum is a congenital anomaly in the anatomy of the ducts of the pancreas in which a single pancreatic duct is not formed, but rather remains as 2 distinct dorsal and ventral ducts. In approximately 10% of embryos the ventral and dorsal ducts fail to fuse together, resulting in pancreas divisum. Therefore in pancreas divisum, where fusion of the ducts does not occur, the major drainage of the pancreas is done by the dorsal duct which opens up into the minor papilla. A majority of individuals born withpancreas divisum will not have symptoms. In some cases, pancreas divisum is only detected during autopsy. A small group of individuals will develop symptoms which commonly include abdominal pain, nausea, vomiting, and acute or chronic pancreatitis. Diagnosis is with MRCP (Magnetic Resonance Cholangiopancreatography), ERCP (Endoscopic Retrograde Cholangiopancreatography), CT scan, or an MRI. Pancreas divisum in individuals with no symptoms does not require treatment. A surgeon may attempt a sphincterotomy by cutting the minor papilla to enlarge the opening and allow pancreatic enzymes to flow normally. This surgery can cause pancreatitis in patients, or in rare cases, kidney failure and death.

Legg–Calvé–Perthes disease is a childhood hip disorder that initiates by a disruption of blood flow to the femoral head. Is characterized by hip, knee, or groin pain, that exacerbates by hip/leg movement, a reduced range of motion, and the presence of abnormal gait.

Osgood–Schlatter disease (OSD) is an inflammation of the patellar ligament at the tibialtuberosity. OSD is characterized by a painful bump just below the knee and is most often seen in young adolescents. Risk factors include overuse and adolescent growth spurts.

Osteomyelitis (OM) is infection and inflammation of the bone and bone marrow. It is subclassified on the basis of the causative organism (pyogenic bacteria or mycobacteria) and the route, duration, and anatomic location of the infection. OM begins as an acute infection, but it may evolve into a chronic condition.

Septic arthritis (infectious arthritis or joint infection) is the purulent invasion of a joint by an infectious agent, which produces arthritis. Septic arthritis is characterized by pain with any movement of the affected joint, joint swelling, redness, and warmth.

Major takeaway
Slipped capital femoral epiphysis is a Salter-Harris type 1 fracture through the proximal femoral physis and is characterized by waddling gait, an acute or insidious onset of a limp, decreased range of motion, and unilateral groin pain in the thigh or knee.

Main explanation
Slipped capital femoral epiphysis (SCFE) is a Salter-Harris type 1 fracture through the proximal femoral physis, which results in slippage of the epiphysis. SCFE is the most common hip disorder in adolescence and is characterized by waddling gait, an acute or insidious onset of a limp, decreased range of motion, and bilateral groin pain (as up to 40% of cases involve slippage on both sides and about 20% of all cases include a SCFE on both sides at the time of presentation) in the thigh or knee. The diagnosis is a combination of clinical suspicion plus a pelvic radiography with anterior-posterior (AP) and “frog-leg” lateral views. SCFE is treated with external in-situ pinning, or open reduction and pinning. Consultation with an orthopaedic surgeon is necessary to repair this condition, which makes this the most appropriate first step in management. Pinning the unaffected side prophylactically is not recommended for most patients, but is appropriate if a second SCFE is very likely. Once SCFE is suspected, is recommended that the patient begins with non-weight bearingpositions and remain on strict bed rest. In severe cases, after enough rest, the patient requires physical therapy to regain strength and movement back to the leg.

Alzheimer’s dementia is characterized by significant memory impairment plus 1 other domain impairment It has a gradual onset with steadily progressive decline. Movement disorders are not common in the early stages of Alzheimer’s as are seen in this patient.

Major takeaway
Many people with Dementia with Lewy bodies (DLB) experience movement symptoms, such as hunched posture, rigid muscles, a shuffling walk and trouble initiating movement.

Main explanation
Lewy body dementia accounts for 10 to 25 % of dementia cases. Patients with Lewy body dementia typically have fluctuating cognition, visual hallucinations, mild Parkinsonism (usually not tremors), and REM-sleep disorders that precede the cognitive symptoms. Lewy bodies are also found in other brain disorders, including Alzheimer’s disease and Parkinson’s disease dementia. Many people with Parkinson’s eventually develop problems with thinking and reasoning, and many people with Dementia with Lewy bodies (DLB) experience movement symptoms, such as hunched posture, rigid muscles, a shuffling walk and trouble initiating movement. This overlap in symptoms and other evidence suggest that DLB, Parkinson’s disease, and Parkinson’s disease dementia may be linked to the same underlying abnormalities in how the brain processes the protein alpha-synuclein.

Frontotemporal dementia is similar to Alzheimer’s disease but withfrontal signs predominating (marked disinhibition and personality change) as well as frontal atrophy and hypo-metabolism. This patient does not have any disinhibition or personality changes.

Prion’s dementia occurs rapidly over the course of a fewmonths, with death usually occurring under a year. Symptoms include: rapidly worsening confusion, disorientation, problems with memory, thinking, planning and judgment, muscle stiffness, twitches and involuntary jerky movements.

Patients with vascular dementia will typically have a history that includes signs and symptomsof cardiovascular disease. Vascular dementia has a sudden onset with stepwise progression and usually presents with focal neuro signs, headache and an onset ofseizures is common in the early stages.

Wolff-Parkinson-White syndrome is a disorder of the electrical system of the heart. It is often referred to as pre-excitation syndromes. This often results in atrioventricular re-entrant tachycardia. The delta wave is a characteristic sign seen on an electrocardiogram.

Major takeaway
Rheumatic heart disease is caused by autoimmune cross-reactivity following a Streptococcal infection. Mitral valve insufficiency is the most common valvular lesion seen in this condition, but tricuspid insufficiency may develop as well.

Main explanation
This child is likely suffering from mitral valve insufficiency due to rheumatic heart disease. This disease is a consequence of autoimmune cross-reactivity following a throat infection with Streptococcus pyogenes. Rheumatic heart disease is the most common cause of mitral valvular diseases. Although rheumatic heart disease and acute rheumatic fever are uncommon in wealthier countries, this child has had poor medical follow-up and is therefore at similar risk. The most appropriate treatment for acute rheumatic fever and rheumatic heart disease is long-term penicillin prophylaxis, the duration of which depends upon the severity of disease.

Coronary atherosclerosis is a condition in which the arteries that supply the heart with blood begin to harden. This is the result of plaque buildup inside the artery walls. This is typically not seen in children.

An aortic aneurysm is dilation of the aorta to greater than 1.5 times normal size. Most symptoms do not appear until the aorta ruptures. Once rupture occurs, it is considered a surgical emergency and has a high mortality even with prompt treatment.

First degree heart block is a disease of the electrical conduction system of the heart in which the PR interval is lengthened beyond 0.20 seconds.

Constitutional delay in puberty (CGD) is the most common cause of short stature and pubertal delay. CGD is a global delay in development that affects every organ system. CGD is usually a diagnosis of exclusion and is not associated with impaired sense of smell.

In cases of hypothalamic destruction or interruption of the hypothalamic- hypophysial tract, increased prolactin secretion occurs because of the loss of tonic inhibition by dopa¬mine. The major symptoms of excess prolactin secretion in men are sexual dysfunction, visual problems, or headache.

Major takeaway
Patients experiencing signs of delayed puberty and anosmiashould be evaluated by an endocrinologist for Kallmann syndrome. Kallmann syndrome is an example of a hypogonadotropic hypogonadism, or hypothalamic hypogonadism, and is a disorder caused by a deficiency in the gonadotropin-releasing hormone (GnRH) secreted by the hypothalamus.

Main explanation
Kallmann syndrome results from decreased or absent gonadotropin-releasing hormone (GnRH) associated with anosmia/hyposmia. It is transmitted as an autosomal dominant disorderwith variable expression. Patients do not undergo puberty and have eunuchoidal (castration) with decreased luteinizing hormone(LH), follicular stimulating hormone (FSH), and testosterone levels as well as immature testes and no sperm production. Kallmann syndrome is due to a mutation in the KAL gene encoding for neuronal cell adhesion molecule (N-CAM), which is normally responsible for directing migration from embryonic origin in the nasal placode to the hypothalamus. Secondary to the failure in migration, patients do not secrete GnRH resulting in decreasing LH and FSH levels. Patients may also experience skeletal abnormalities, color blindness, renal agenesis, nerve abnormalities, and congenital heart diseases. Diagnosis is via plasma hormone assay.

Klinefelter’s syndrome is a genetic disorder that develops when there is at least one extra X chromosome and one or more Y chromosomes. Most men are asymptomatic, but clinical features may include reduced muscle mass, reduced strength, less facial and body hair, and gynecomastia.

Panhypopituitarism in adults generally leads to hypothyroidism, decreased glucocorticoidproduction and suppressed gonadotropic hormone secretion Patients are generally characterized by lethargy (from lack of thyroid hormones), weight gain (due to lack of fat mobilization by growth and adrenocorticotropic hormones) and loss of sexual function.

Asherman syndrome (intrauterine adhesions) is the only uterine cause of secondary amenorrhea. FSH levels will be normal in patients with this condition.

Women with hypothalamic amenorrhea will present with normal to low serum FSH values. Women who excessively exercise or lose weight are at a higher risk of hypothalamic amenorrhea.

This presentation is inconsistent with polycystic ovary syndrome which most commonly appears with oligomenorrhea, hyperandrogenism, and polycystic ovaries on 2D ultrasound.

Pregnancy is the most common cause of secondary amenorrhea. An abnormal FSH level and a urine hCG rules out the possibility of pregnancy.

Major takeaway
Premature ovarian failure is diagnosed in patients who undergo depletion of oocytes prior to age 40 (the average age of menopause is 51). Diagnosis is made when follicle stimulating hormone (FSH) levels are found to be in the menopausal range.

Main explanation
High FSH in the presence of secondary amenorrhea indicates premature ovarian failure. Primary amenorrhea is characterized by menstrual bleeding having yet to occur by a certain age while secondary amenorrhea is the cessation of menstrual bleeding after a history of menstruation. Secondary amenorrhea is further defined as absence of menses for 3 consecutive cycles or at least 6 months in women with a history of oligomenorrhea. The most common cause of secondary amenorrhea is pregnancy; other causes include Asherman syndrome, anovulation, menopause, polycystic ovary syndrome, and a number of regulatory disorders related to the thyroid, hypothalamus, and pituitary gland.

Premature ovarian failure, or primary ovarian insufficiency, occurs when there is depletion of oocytes before age 40 years. Lack of ovarian function leads to estrogen deficiency, endometrial atrophy, and cessation of menstruation. Patients will also experience menopausal symptoms. This may be the result of Turner syndrome, fragile X permutation, autoimmune ovarian destruction, or unknown causes.

Periductal mastitis is an inflammatory condition of the subareolar ducts, causing purulent nipple discharge and periareolar inflammation. It is associated with duct damage and squamous metaplasia.

Simple fibroadenomas do not typically produce nipple discharge of any kind. They are also more common in younger women than in perimenopausal women.

Major takeaway
Intraductal papillomas are characterized by unilateral serosanguinous nipple discharge, typically in the absence of a palpable mass. Diagnosis should be confirmed through mammography and core-needle biopsy to rule-out malignant causes of bloody nipple discharge.

Main explanation
Unilateral, bloody nipple discharge in a perimenopausal woman is most likely caused by an intraductal papilloma. Other possible causes of this presentation include ductal carcinoma in situ or Paget disease of the breast. For this reason, this patient should be sent for further imaging to explore the etiology of her nipple discharge. Although intraductal papillomas are generally benign, they can sometimes include areas of ductal carcinoma in situ (DCIS), and should therefore be evaluated with core-needle biopsy. The management strategy depends on the number of papillomas, the presence or absence of cellular atypia on biopsy, and the severity of symptoms.

Unilateral, bloody nipple discharge is not normal in women of any age. It should be investigated further even if there is no palpable breast mass.

While hyperprolactinemia due to a pituitary tumor, hypothyroidism, or certain medications may cause nipple discharge, this discharge is more likely to be bilateral and unlikely to be bloody.