Rickets

ID CC A 61-year-olcl male smoker presents with headache, weakness, fatigue, and decreased urinary output (OLIGURIA). HPI He was recently diagnosed with oat cell carcinoma of the lung. PE 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). Labs Decreased serum sodium (hyponatremia) decreased serum osmolality (< 280 mOsm...

Leschnyhan Syndrome

A 5-day-old male presents with seizures, difficulty feeding, and vomiting his mother reports a peculiar, maple-sugar-like odor on his diapers. HPI His mother had an unremarkable full-term vaginal delivery. PE 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and obtunded sensorium fundus normal peculiar odor in urine and sweat when child's head support (hand) is suddenly withdrawn in supine position, patient fails to react with normal...

Von Gierkes Disease

A 10-year-old girl is brought by her parents to a dermatologist because of a recent change in color and increase in size of a warty lesion on her face. HPI She has been suffering from excessive sensitivity to sunlight and thus does her best to avoid the sun as much as possible. PE Abundant freckles on all sun-exposed areas telangiectases areas of redness (erythema) and hypopigmentation hyperkeratosis 011 face and dorsum of hands hard, nodular lesion on right cheek no regional lymphadenopathy....

Hemophilia Type A

ID CC A 9-month-old infant is brought to the pediatrician because of jaundice, lethargy, and easy fatigability. HPI The parents of the child are immigrants of northern European origin. PE Pallor mild jaundice palpable splenomegaly. Labs CBC PBS microcytic anemia small, rounded, dark RBCs lacking central pallor negative Coombs' test. Elevated indirect bilirubin increased reticulocytes increased mean corpuscular hemoglobin count (> 35) decreased MCV abnormal RBC osmotic lysis test. Discussion...

Kartageners Syndrome

ID CC A 19-year-old male visits his family physician because he is embarrassed at having large breasts. HPI He also complains of frequent headaches and impotence. PE Tall, eunuchoid body habitus mild mental retardation testes small and firm breast enlargement (GYNECOMASTIA) female distribution of hair. Labs UA increased urinary FSH decreased 17-ketosteroid. Imaging XR delayed physeal closure short fourth metacarpal. Gross Pathology Testicular atrophy. Micro Pathology Testicular fibrosis and...

Hirsutismidiopathic

ID CC A 39-year-old woman is referred to an internist by her family practitioner because of persistent hypertension that has been unresponsive to conventional treatment she also complains of profound muscle weakness (due to hypokalemia). HPI She is a two-pack-a-day smoker who drinks occasionally. PE VS normal heart rate hypertension (BP 200 100). PE no pallor retinal hemorrhages, exudates, and AV nicking lungs clear no heart murmurs abdomen soft no palpable masses no lymph-adenopathy. Labs GBC...

Vitamin B3 Deficiency Pellagra

A 9-month-old white female 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. Her parents report a diet of unsupplemented cow's milk. tis of skin of lower extremities, forearms, and abdomen pur- 3 Weakness pallor hyperkeratosis and hemorrhagic perifolliculi- puric skin rashes splinter hemorrhages in nail beds of hands tenderness and swelling of distal...

Pseudohypoparathyroidism

Micro Pathology Treatment Discussion A 15-month-old Eskimo boy is brought to the pediamc clinic by his parents because of delayed dentition, poor growth and development, frequent crying, and weakness. The infant's diet is deficient in eggs and dairy products, and he spends most of his time indoors (i.e., he has no exposure to sun- Irritability poor muscular development and muscle tone ab- -pj dominal distention hypotonia of all muscles anterior fontanelle g open softening of occipital and...

Vitamin K Deficiency

ID CC A 47-year-old male high-school teacher visits his internist because of chronic watery diarrhea and hot flashes while drinking alcohol a few months ago he also noticed a peculiar redness of his face. HPI Every time he works or exercises in the sun, he develops a rash on exposed areas (photodermatitis). PE VS normal. PE in no acute distress redness of face no neck masses or increased jVP systolic ejection murmur grade l TV at pulmonary area, increasing with inspiration (pulmonary stenosis)...

Cystic Fibrosis

ID CC A 15-year-old female is brought to the emergency room from school following the sudden development of severe, intermittent right-flank pain together with nausea, vomiting, and blood in her urine (a picture typical of renoureteral stone). HPI Her medical and family history is unremarkable. PE VS tachycardia normal BP slight fever. PE short stature (due to lysine deficiency) in acute distress constantly switches positions in bed (due to renal colic) abdominal tenderness no peritoneal...

Hyaline Membrane Disease

ID CC 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. HPI She also complains of frequent URIs and moderate weight loss. PE Thin female with increased anteroposterior diameter of chest (barrel-shaped chest) decreased breath sounds bilaterally hyperresonance to percussion retardation of expiratory flow. Labs CBC increased hematocrit. PFTs...

Vitamin Deficiency Beriberi

ID CC A 45-year-old alcoholic Hispanic male who recently underwent a strangulated hernia repair becomes irritable and weak, suffers significant weight loss, and develops a rash 011 his face, his neck, and the dorsum of his hands he also suffers from diarrhea and altered mental status. HPI After his operation (which involved a 5-cm small bowel resection), the patient became torpid and anorexic with lack of proper return of bowel function for about 3 weeks. His diet had been based on corn...

Carbon Monoxide Poisoning

ID CC A 52-year-old obese white male comes to his family doctor complaining of severe pain in the first metatarsophalangeal (MTP) joint (PODAGRA) that began at night after an episode of binge eating and drinking. H PI He admits to being an avid meat eater and drinks red wine every night. His history is significant for removal of kidney stones (uric acid stones). PE VS fever (38.2 C). PE right MTP joint red, hot, and swollen painful to active and passive motion tophaceous deposits in left ear...

Kallmanns Syndrome

A 2-year-old girl, the daughter of an African immigrant, is admitted to the pediatric ward owing to an increase in abdominal girth and failure to thrive. She recently arrived in the United States from her home country. She was breast-fed until 1 year of age, at which time her mother ran out of milk. She is apathetic and irritable and has 5 been having frequent episodes of diarrhea. o Height and weight in fifth percentile skin and hair depigmenta- g tion thinning of hair dry skin hyperkeratosis...

Anemiavitamin B12 Deficiency

ID CC A 31-year-olcl black male who works as a Peace Corps volunteer in Ghana visits his medical officer complaining of extreme weakness and fatigue he also complains of a yellowing of his skin and slight fever. HPI He was prescribed primaquine for radical treatment of malaria (dtie to Plasmodium vivax). PE VS tachycardia (HR 95). PE mild jaundice circumoral and nail bed pallor no hepatosplenomegaly remainder of PE normal. Labs Elevated indirect bilirubin. CBC PBS low hemoglobin and hematocrit...

Acute Intermittent Porphyria

ID CC A 27-year-old farmer from Florida (with abundant sun exposure) comes to see his dermatologist for an evaluation of a recent increase in size and change in color of a skin lesion that has been present on the dorsum of his hand (a sun-exposed area) for 6 years. HPI The patient is an albino, but he has not been able to comply with his dermatologist's orders to wear long sleeves while working in the field. PE White hair, including eyelashes and eyebrows eye exam shows nystagmus and poor...

Osteogenesis Imperfecta

ID CC A 45-year-olcl male chess player is brought to the emergency room complaining of acute nausea he has vomited five times, feels very lightheaded, and has a severe headache. HPI He went out drinking last night to celebrate his victory in a chess tournament he attended last week in Mexico. While in Mexico, he contracted acute amebiasis that is currently being treated with metronidazole. PE VS marked tachycardia (HR 120) hypotension (BP 90 60). PE anxious, dehydrated, and confused with severe...

Ehlersdanlos Syndrome

ID CC A 17-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 His maternal uncle died of chronic renal failure at the age of 40. PE Clusters of purplish-red, hyperkeratotic lesions on skin around umbilicus, buttocks, and scrotum (ANGIOKERATOMAS) right corneal leukomatous opacity neurologic exam normal except for painful paresthesias along arms and soles pitting edema in lower extremities....

Familial Hypercholesterolemia

ID CC A 16-year-old white female complains of sudden midepigastric pain and nausea after eating french fries. HPI 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. PE Nonpainful, yellowish papules on face, scalp, elbows, knees, and buttocks (eruptive xanthomatosis) lipemia retinalis on fundu-scopic exam hepatosplenomegaly abdominal muscle guarding and...

Congenital Adrenal Hyperplasia

ID CC A 27-year-old white male complains of excessive thirst (polydipsia) and increased urination (polyuria) with very diluted urine. HPI The patient drinks several liters of water every day. He was well until this time. The patient also admits to frequent urination (including nocturia) of large volumes that are clear and watery. PE VS slight tachycardia. PE mild dryness of mucous membranes visual field testing normal no papilledema pupils equal and reactive. Labs Low urine specific gravity...

Maple Syrup Urine Disease

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

Phosphoenolpyruvate Carboxykinase Deficiency

A 2-month-old child is brought to the pediatrician because of failure to gain weight, increasing weakness, insufficient strength to breast feed, and lethargy. HPI He is the second-born son of a healthy white couple his mother's pregnancy and delivery were uneventful. PE Mild cyanosis shallow respirations increase in size of tongue (MICROGLOSSIA) moderate hepatomegaly significant generalized muscular flaccidity. Labs CBC normal. Lytes normal. Glucose, BUN, creatinine normal. ECG short P-R wide...

Hereditary Fructose Intolerance

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. HPI The boy was born in Malaysia and never had any prenatal screening. PE Tall and thin with elongated limbs (Marfanoid appearance) fine hair abnormally long fingers (arachnodactyly) pectus excavatum lenticular dislocation (ectopia lentis) malar flush high-arched palate genu valgum cardiovascular exam normal. Labs Increased serum methionine...

Hyperventilation

A 36-year-old divorcee living in rural Maine is brought by ambulance to the ER with her two children, who were all found unconscious in her home by military personnel. HPI 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. PE Skin bright red cherry-red cyanosis pulse arrhythmic patient regains consciousness soon after administration of 100 oxygen but remains drowsy,...

Niemannpick Disease

ID CC A 2-year-old female is referred to a pediatric clinic for evaluation of lethargy, weakness, and persistent anemia that has been unresponsive to treatment with iron, folic acid, and vitamins C and B 2. HPI She is the third-born child of a healthy white couple her mother had an uneventful pregnancy and a eutopic delivery. Both brothers are healthy. PE Low weight and height for age marked pallor flaccidity and lethargy sleepiness. No focal neurologic signs lungs clear heart sound with slight...

Vitamin C Deficiency Scurvy

ID CC A 47-year-old homeless alcoholic man with a diet deficient in leafy vegetables comes into the emergency room with weakness, bleeding gums, swelling in his right knee due to blood collection hemarthrosis , and bloody vomit hematemesis . HPI The patient's diet consists of one meal a day of leftovers from fast-food restaurants. He was given ampicillin for diarrhea 2 weeks ago leading to suppression of vitamin K synthesis by colonic bacteria . PE Thin and malnourished with poor hygiene...

Porphyria Cutanea Tarda

ID CC A 5-year-old girl is referred to a hematologist for an evaluation of chronic anemia that has been unresponsive to nutritional supplementation. HPI Both parents are clinically normal and are first cousins who are Amish. The patient has no history of passage of dark-colored urine or recurrent infections. PE Low weight and height for age pallor mild jaundice spleen barely palpable liver not enlarged. Labs CBC PBS anemia markedly increased reticulocyte count peripheral blood reveals...