Secondary Amenorrhea

Imaging Gross Pathology Micro Pathology Treatment Discussion A 61-year-old male smoker presents with headache, weakness, fatigue, and decreased urinary output ( He was recently diagnosed with oat cell carcinoma of the lung. Cardiac sounds normal no murmurs no arrhythmias no pitting edema no hepatomegaly no jugular plethora (no evidence of cardiac disease) no asterixis, jaundice, spider nevi, or parotid enlargement (no evidence of hepatic disease). Decreased serum sodium ( HYPONATREMIA)...

Leschnyhan Syndrome

Imaging Gross Pathology Micro Pathology Treatment A 5-day-old male presents with seizures, difficulty feeding, and vomiting his mother reports a peculiar, maple-sugar-like odor on his diapers. His mother had an unremarkable full-term vaginal delivery. VS no fever. PE full-term neonate with irregular respirations, muscular rigidity ( SPASTICITY), and obtunded sensorium fundus normal peculiar odor in urine and sweat when child's head support (hand) is suddenly withdrawn in supine position,...

Metachromatic Leukodystrophy

ID CC An 11-month-old Jewish male of Ashkenazi descent presents with globally delayed development and diminished visual acuity. HPI His parents feel that the baby is not acquiring new skills and that existing ones are regressing. They also feel that their child cannot see or hear properly, PE Lymphadenopathy hepatosplenomegaly cherry-red spot at macula on funduscopy malnourished infant with protuberant abdomen global developmental delay hypoacusis. Labs CBC mild normochromic, normocytic anemia....

Deficiency

Imaging Gross Pathology Micro Pathology A 7-year-old male is brought to the emergency room because of weakness and the spontaneous appearance of painful swelling of both knee joints (due to hemarthrosis) as well as black, tarry stools (G1 bleeding). The child has a history of prolonged bleeding following minor injuries. His maternal uncle died of a bleeding disorder. Pallor swollen, erythematous, tender knee joints with blood accumulation in synovial capsule ( HEMARTHROSIS) numerous bruises...

Maple Syrup Urine Disease

A 3-year-old white male is brought to the pediatrician because of increasing difficulty walking due to spasticity. The child had been developing normally up to now, and his medical history is unremarkable. Difficulty climbing stairs ataxia wide-based gait extensor plantar response and hyperreflexia. LP increased protein in CSF (vs. cerebral palsy). Decreased peripheral nerve conduction velocity. Generalized demyelination (due to deficiency of arylsulfatase A interfering with normal metabolism...

Duchennes Muscular Dystrophy

Labs Imaging Gross Pathology Micro Pathology A 9-year-old boy is brought to the emergency room with pain, inability to move his left shoulder, and flattening of the normal rounded shoulder contour ( SHOULDER DISLOCATION) that occurred when he tried to hit a ball with his bat at a local baseball field. He has dislocated his left shoulder nine times before and his right shoulder three times before. He also has a history of easy bruising. Hyperelastic skin cigarette paper scars in areas of trauma...

Chronic Granulomatous Disease

An 11-year-old white female is brought to the ER by her parents because of fever, difficulty breathing, and a productive cough with greenish sputum. Her parents are of northern European descent. She has a history of recurrent UTIs and foul-smelling diarrhea since infancy. VS tachycardia tachypnea (RR 45). PE mild cyanosis malnourishment nasal polyps hyperresonance to lung percussion with barrel-shaped chest scattered rales hepatomegaly. High sodium and chloride concentrations in sweat test H....

Pseudohypoparathyroidism

Gross Pathology Micro Pathology Treatment Discussion A 33-year-old woman presents to a clinic with marked weakness (due to hypokalemia). Two years ago, she underwent a ureterolithotomy for renoureteral stones. VS tachypnea. PE generalized muscle weakness heart sounds with a few skipped beats (hypokalemia gives rise to severe arrhythmias) diminished intestinal peristalsis no peritoneal signs. Lytes increased urinary potassium excretion (due to insufficient hydrogen ion available, with potassium...

Rickets

A 9-month-old white girl is brought to the pediatric clinic because of listlessness and anorexia. She is the daughter of an unemployed poor urban couple and has never before seen a pediatrician or taken any medication. Weakness pallor hyperkeratosis and hemorrhagic perifolliculitis of skin of lower extremities, forearms, and abdomen purpuric skin rashes splinter hemorrhages in nail beds of hands tenderness and swelling of distal femur and costochondral junctions bleeding gums petechiae seen...

Ehlersdanlos Syndrome

ID CC A 27-year-old male presents with episodes of painful, burning paresthesias along his palms and soles along with markedly diminished vision in his right eye. HPI I lis maternal uncle died of chronic renal failure at the age of PE Clusters of purplish-red, hyperkeratotic lesions on skin around umbilicus, buttocks, and scrotum ( ANGIOKERATOMAS) right corneal leukomatous opacity and retinal edema neurologic exam normal except for painful paresthesias along arms and soles pitting edema in...

Nonketotic Hyperosmolar Coma

Gross Pathology Micro Pathology Treatment A 44-year-old male is admitted to the orthopedic department because he sustained a femoral neck fracture when he fell from a small stool the type and magnitude of the fracture are not compatible with the patient's age and impact. The patient recently emigrated from Somalia and states that he has been suffering from increasing leg weakness and persistent lower back pain. VS normal. PE complete right femoral neck fracture on palpation, tenderness of...

Thyroid Storm Thyrotoxic Crisis

Labs Imaging Gross Pathology Micro Pathology A 27-year-old Cuban political dissident visits a medical clinic complaining of diminished visual acuity, primarily at night. He recently arrived in the U.S. by boat after spending several years in prison. VS normal. PF. conjunctiva shows diminished tear lubrication with dryness (- xerosis when localized, it forms patches known as Bitot's spots) as well as keratinization and small corneal ulcers ( xerophthalmia). Keratinizing metaplasia in conjunctiva...

Hereditary Fructose Intolerance

Imaging Gross Pathology Micro Pathology A 9-year-old male is referred to the pediatric clinic because of progressive mental retardation, diminished visual acuity, and bone deformity in the thorax. The boy was born in Malaysia and never had any prenatal screening. Tall and thin with elongated limbs fine hair abnormally long fingers ( ARACHNODACTYIY) pectus excavatum lenticular dislocation ( ECTOPIA LENTIS) malar flush high-arched palate genu valgum cardiovascular exam normal. Increased serum...

Carbon Monoxide Narcosis

A premature 32-week-old male infant is brought to the intensive care unit after a cesarean delivery. His mother had third-trimester bleeding and contractions that did not stop with rest and conservative treatment. VS tachypnea. PE child weighs 3.8 lb cyanosis dyspnea uses accessory muscles of respiration nasal flaring. ABGs hypoxemia hypercapnia. Decreased lecithin sphingomyelin L S ratio L S ratio normally gt 2 1.5-2.0 in 40 of newborns with respiratory distress syndrome . CXR bilateral...

Familial Hyper Cholesterolemia

Imaging Gross Pathology Micro Pathology Treatment A 16-year-old white female complains of sudden midepigastric pain and nausea after eating frcnch fries. Her history reveals that she and a sibling have had similar episodes of abdominal pain in the past. Careful questioning discloses that she experiences flushing every time she drinks alcohol. Nonpainful, yellowish papules on face, scalp, elbows, knees, and buttocks ERUPTIVE XANTHOMATOSIS lipemia retinalis on funduscopic exam hcpatosplenomegaly...

Anxiety Hyperventilation

Imaging Gross Pathology Micro Pathology Treatment A 36-year-old divorcee living in rural Maine is brought by ambulance to the ERwith her two children, who were all bund unconscious in her home by military personnel. A recent El Ni o produced bad weather that resulted in a power failure as a result, she had been using charcoal and a wooden stove inside her house for heating purposes. Skin bright red CHERRY RED CYANOSIS pulse arrhythmic patient regains consciousness soon after administration of...

Fanconis Anemia

Imaging Gross Pathology Micro Pathology Treatment Discussion A 10-year-old male is referred to a genetic evaluation clinic by his pediatrician because of mental retardation. His mother did not take any drugs during her pregnancy, did not suffer from any major illnesses, was seen by an obstetrician periodically, and was monitored intrapartum. Patient well developed physically with grade I mental retardation no evidence of cardiovascular, genitourinary, or hepatic disease. Patient has been...

Bjochemistry Of Ards

Micro Pathology Treatment Discussion A 36-year-old female nonsmoker visits her family doctor because she has become increasingly short of breath DYSPNEA her symptoms first appeared only during exercise but now occur even when she is at rest. She also complains of frequent URIs and moderate weight loss. Thin female with increased anteroposterior diameter of chest RARRF.I.-SHAPED CHEST decreased breath sounds bilaterally hyperresonance to percussion retardation of expiratory flow. CBC increased...

Hypocalcemia From Pancreatitis

Imaging Gross Pathology Micro Pathology Treatment A 73-year-old female complains of weakness, painful muscle cramps, and constipation. She suffers from chronic congestive heart failure CHF that has been treated with digoxin and furosemide. She was also on oral potassium tablets but has discontinued them becausc of gastric upset. VS irregular pulse atrial fibrillation hypertension BP 145 90 no fever. PE well hydrated conjunctiva normal jugular venous pulse slightly increased, S3 heard mild...