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144 Cards in this Set
- Front
- Back
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A newborn infant at birth is noted to have acrocyanosis, a heart rate of 140, grimaces to stimulation, and is active and with a lusty cry. What is her Apgar score?
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A: 1
P: 2 G: 1 A: 2 R: 2 Total: 8 |
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On physical exam, a 12 hour old newborn is noted to have nontender swelling of the head that does not cross the suture line. What is most likely diagnosis?
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Cephalohematoma
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A newborn infant has blue-gray pigmented lesion on the sacral area. It is clearly demarcated and does not fade into the surrounding skin. What is the most likely diagnosis?
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Mongolian Spots
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A newborn has a flat, salmon-colored lesion on the glabella, which becomes darker red when he cries. What is the best course of management?
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Salmon patch (nevus simplex)
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A 1 month old fair haired, fair skinned baby presents with projectile vomiting of 4 days duration. Physical exam reveals a baby with eczema and a musty odor. Which screening test would most likely be abnormal?
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Phenylketonuria (PKU)
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You are called to see a 9.5 lb infant who is jittery. PE reveals a large plethoric infant who is tremulous. A murmur is heard. Blood sugar is low. Dx?
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Fetal Hyperinsulinemia
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Shortly after birth, a 33 wk gestation infant develops tachypnea, nasal flaring, and grunting and requires intubation. CXR shows a hazy, ground-glass appearance of the lungs. Dx?
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Respiratory Distress Syndrome
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A newborn is noted to have choking and gaggin with its first feed and then develops respiratory distress. CXR shows aspiration pneumonia. A feedin tube is coiled in the esophagus. Dx?
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Tracheoesophageal Fistula
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A 2 day old infant is noticed to be jaundiced. He is nursing and stooling well. Indirect bilirubin is 11.2 mg/dL; direct is 0.4 mg/dL. PE is unremarkable except for visible jaundice. Dx?
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Physiologic Jaundice
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A 3 week old infant presents with irritability, poor feeding, temperature of 38.9 and grunting. PE reveals a bulging fontanel, delayed capillary refill and grunting. Dx? Cause? Tx?
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- Neonatal Sepsis
- GBS, E. Coli, Listeria |
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In the newborn intensive care unit, an infant, is noted to have sucking movements, tongue thrusting and bried apneic spells. Blood counts and chemistries are normal. Dx? Causes?
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- Neonatal Seizures
- Hypoxic ischemic encephalopathy, Metabolic, Infection |
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A 2 day old infant is noticed to have coarse jitters and is very irritable with a high-pitched cry. A low grade fever is reported, as well as diarrhea. Maternal history is positive for heroin use. Dx?
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Maternal Substance abuse and neonatal withdrawal
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A nursing mother ask if her 3 month old baby requires any vitamin supplementation? If yes, which ones?
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Vitamin D
If bottle feeding, Vit D in the US is added in formula. |
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A father is worried that his 13 year old son is short. The child has been very healthy. He is below the 5%ile for height and has been all his life. PE is normal. Father is 6'3"; Mother is 5'10". Father was a "late bloomer." Dx?
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Constitutional Growth Delay:
- CA>BA - parent normal height - normal final height - growth spurt and puberty delay |
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A baby weighs 16 lbs at 1 year of age. Birth weight was 8 lbs. Parents state that the baby feeds well. PE reveals a baby with little subcutaneous fat, long dirty fingernails, impetigo, and a flat occiput. Dx? Tests?
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Nonorganic Failure to thrive
Feed under supervision |
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A 4 month old infant presents to the emergency department because the mother states that the infant has upper respirtory sx. The pt is less than 5%ile in weight and length. He is 3.5kg. Birth weight was 4.2 kg. The mother states that the pt take 16 oz of infant formulae per day with cereal added. Dx? DD? Tests?
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Failure to Thrive
DD: malnutrition: malabsorption, allergies, immunodeficieny, chronic disease Test: CBC, UA, LFT, Serum Protein, Sweat Chloride, caloric intake, Stool O/P |
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A 3 year old boy is seen for chronic illness. He appears edematous and apathetic, with thin hair. Generalized dermatitis is notes. Sparse hair and decreased muscle tone are noted. Dx? DD? Lab? Tx?
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Kwashiorkor (Preotein/energy malutrition PEM)
DD: Kwaskiorkor (generalized edema) Marasmus (distended abdomen) Labs: decreased pre-albumin Tx: Slow re-feeding |
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An infant can sit up with its back straight, has started crawling, has a pincar graps, and plays peek-a-boo. What age is most appropriate for for this baby?
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9 months
- Sits alone, back straight - Creeps/crawls, "walk" with hands held - pincer grasp assited - alert to sound of own name, object permanence - Peek-a-boo, bye-bye, repetitve consonant |
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Newborn Reflex: Moro
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Extend head --> extension, flexion of arms, legs
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Newborn Reflex: Grasp
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Finger in palm --> hand, elbow, shoulder flexion
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Newborn Reflex: Rooting
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Check stimulus --> turns mouth to that side
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Newborn Reflex: Parachute
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Stimulate fall --> extends arms
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Major 3 month Milestone
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Sustained social smile
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Major 6 month Milestone
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Rolls over, pivots, may creep, crawl
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Major 9 month Milestone
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Pincer grasp assisted
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Major 12 month Milestone
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Cruises, may stand
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Major 15 month Milestone
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Walks alone, crawls up stairs, 3 cube tower, makes line, and scribbles
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Major 18 month Milestone
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4 cube tower, feeds self, 10 words, seeks help, "no," body parts
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Major 24 month Milestone
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Runs well, up/down stairs (one step), 7 cube tower, 2-3 word sentences
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Major 30 month Milestone
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Up stairs (alternating feet), refers to self as "I," knows name
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Major 36 month Milestone
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Down strairs (alternating), rides tricycle, imitates cross, copies circle, knows age and sex
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Major 48 month Milestone
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Hops on one foot, throws bal over hand, copies square, group play
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Major 60 month Milestone
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Copies triangle
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A 7 year old boy has problems with bedwetting. The mother says that during the day he has no problems but is usually wet 6 of 7 mornings. He does not report dysuria or frequency, and has not had increased thirst. The mother also says that he is a deep sleeper.
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Primary Enuresis
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A 4 year old child speaks in unintelligible mumbles, prefers to play by himself, and rocks back and forth constantly. Parents state that as an infant he had delayed social smile and was never very playful or interactive. Dx?
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Austistic Disorder
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A 6 year old boy is doin poorly in school. Teachers report that he is distractible, implusive, and fidgety. Parents state that he is always "on the go" at home and has been discipline problem. Dx?
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ADHD
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A 6 month old pt is being seen for routine care. The baby is doing well, and PE growth, and development are normal. The mother states that after the last set of immunization the baby had a temp of 54C (103F) and cried for 2 hours but was consolable. What is your advice to this mother before administering the next set of immunization?
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A reaction to DPT of a temp <105F, redness, soreness, and swelling is NOT a contraindication to futher immunizations.
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Live Attenuated Viral Vaccine
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MMR, Varicella, Yellow Fever, Nasal Influenza
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Live Attenuated Bacterial Vaccine
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BCG (Bacille Calmette-Guerin), Oral Typhoid, Small px
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Inactivated Whole Virus Vaccine
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Polio, Rabies, Hep A
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Inactivated Fractional Protein based Vaccine
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Hep B, Parenteral Influenza, Acellular Pertussis
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Inactivated Fractional Polysaccharide based Vaccine
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Toxid: Diphtheria, Tetanus
Pure: Pneumococcal, Hib, Meningococcal Conjugate: Hib, Pneumococcal |
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A 2 year old boy presents to the ER with a skull fracture that the mother states the child acquired after falling from a sofa onto a carpeted floor. During physical examination the child is alert. He is noted to have old bruising on the buttocks and back, as well as a cigarette burn on his palm. The mother states that the child "falls a lot" and is always touching things he should not. Dx? DD?
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Phyical Abuse
DD: osteogenesis imperfecta, severe osteomalacia (rarely of the metaphysis), impetigo, coining, insect bites, and idiopathic thrombocytopenic purpura. |
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A 3 year old child presents to hospital with severe diarrhea. The mother is a nurse employed by one of the physicians on staff. She is well liked by the hospital team b/c is always so willing to "help out," i.e. taking her daughter's vital signs and feeding her. However, after 3 days of extensive therapy, the pt shows no improvement. No one can understand why this child remains ill until a nurse's assistant finds "chocolates" under the sheets while making the pt's bed. Dx?
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Munchausen Syndrome by Proxy
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A 3 year old presents with green vaginal discharge. Microscopic examination of the discharge revealed gram-negative intracellular diplococci.
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Sexual Abuse
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A 2 year old child presents to ER with her parents b/c of high fever and difficulty swallowing. The parents state that the child had been in her usual state of health but awoke with fever of 40C (104F), a hoarse voice, and difficulty swallowing. On PE, the patients is sitting in a tripod position. The child is drooling, has expiratory stridor, nasal flaring, and retractions of the suprasternal notch and supra clavicular and intercostal spaces. Dx?
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Epiglottis - Strep. pyogenes, Strep. pneumoniae, Staph. aureus, Mycoplasma
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A toddler presents to the ER after choking on some coins. The child's mother believes that the child swallowed a quarter. On PE, the pt is noted to be drooling and in moderate respiratory distress. There are decreased breath sounds on the right intercostal retraction. Dx?
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Airway Foreign Body
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A 6 month old infant presents to the physician with a 3 day history of upper respiratory tract infection, wheezy cough, and dyspnea. On PE, the pt has a temp of 39C (102F), respirations of 60, nasal flaring,and sccessory muscle usage. The pt appears to be air hungry, and the oxygen saturation is 92%. Dx?
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Bronchiolitis
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A 3 year old child presents to the physician with a temp of 40C (104F), tachypnes and a wet cough. The pt's sibling has similar symptoms. The child attends daycare but has no history of travel or pet exposure. The child has a decreased appetite but is able to take fluids and has good urine output. Immunization are up to date. Dx?
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Pneumonia
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A 3 year old white girl presents with rectal prolapse. She is noted to be in the less than 5th percentile for weight and height. The parents also notes that she has a foul-smelling bulky stool each day that "floats." They also state that the child has developed a repetitive cough over the last few months. Dx?
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Cystic Fibrosis
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A 2month old term infant born without any complication via spontaneous vaginal delivery is brought to the ER via ambulance with CPR in progress. According to the mother, the pt was in his usual state of good health until 4 am when she found the pt cyantoitc and not breathing. The mother states that a midnight the infant was fed 4 oz of formula without any difficulty. After the feeding, the child was placed to sleep in a crib. At 4 am the mother returned to check on the infant and found the child unresponsive. She immediately called EMS and began CPR. The child was pronounced dead on arrival. Dx?
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Sudden Infant Death Syndrome (SIDS)
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A 6 year old boy presents to his physiciam with end-expiratory wheezing scattered throughout the lung fields. He is noted to have nasal flaring, tachypnea, and intercostal retractions. These symptoms are triggered by changes in the weather. He has a family history of asthma and atopic dermatitis. He has never been intubated or admitted to the pediatric ICU. His last hospitalization for asthma was 6 month ago. He takes medicaiton for asthma only when he starts to wheeze.
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Asthma
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Class of Asthma: Mild intermittent
Daytime Sx? Nighttime Sx? PFTs? Tx? |
Daytime Sx: < 2x/week
Nighttime Sx: < 2x/month PFTs: FEV1 >80% predicted, PEF variation <20% Tx: Short acting Beta agonist PRN |
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Class of Asthma: Mild persistent
Daytime Sx? Nighttime Sx? PFTs? Tx? |
Daytime Sx: > 2x/week
Nighttime Sx: > 2x/month PFTs: FEV1 >80% predicted, PEF variation 20-30% Tx: Inhaled steroids, Short acting Beta agonist for breakthrough |
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Class of Asthma: Moderate persistent
Daytime Sx? Nighttime Sx? PFTs? Tx? |
Daytime Sx: Daily
Nighttime Sx: > 1x/week PFTs: FEV1 60-80% predicted, PEF variation >30% Tx: Inhaled steroids, Long acting Beta agonist, Short acting Beta agonist for breakthrough |
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Class of Asthma: Severa persistent
Daytime Sx? Nighttime Sx? PFTs? Tx? |
Daytime Sx: Continual, limited activites, frequent exacerbations
Nighttime Sx: Frequent PFTs: FEV1 <60% predicted, PEF variation >30% Tx: High dose inhaled steroids, Long acting Beta agonist, Short acting Beta agonist, Systemic steroids |
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Evaluation of Antibody Deficiency
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Ig levels
Ab titers to protein Ags (diphtheria, tetanus) Ab titers to polysaccharide Ags (pneumococcal vaccine) IgG subclasses B-cell enumeration |
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Evaluation of Cell-mediated Immunity
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Total lymphocyte count
HIV evaluation Delayed hypersensitivity (skin tests - Candida, mumps, tetanus toxoid) CD3, CD4, CD8 In vitro T-cell proliferation to mitogens CXR for thymic hypoplasia FISH 22 for DiGeorge |
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Splenic Dysfunction
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Howell Jolly bodies
Hb Electrophoresis Tc-99 spleen scan |
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Phagocytic Function (CGD, Chediak-Higashi)
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WBC neutrophiil count and morphology
NBT Test (CGD) Chemotactic assay Phagocytic assay |
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Complement
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CH50
Individual complement assays |
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A 15 month old child presents to the physician with fever of 39C (102F). On PE, the pt is noted to have a right tympanic membrane that is erythematous and bulging and that has obsure landmarks and no mobility. On review of the medical record you note that since 9 months of age this pt has had multiple infection with otitis media, sinusitis, and pneumonia. Dx?
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Bruton Agammaglobulinemia
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A 3 year old child is brought to your office because of recurrent upper respiratory infections and recurrent UTIs, as well as current diarrhea. Dx?
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Selective IgA Deficiency
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An 8 year old girl complains of acute sore throat of 2 days duration, accompanied by fever and mild abdominal pain. PE reveals enlarged, erythematous tonsils with exudate and enlarged, slightly tender cervical lymph nodes. Dx?
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IgG Subclass Deficiency
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A 3 week old infant presents with a generalized seizure. The pt was born to a 22 yo white women, G1P1, full term via SVD. The mother had good prenatal care and denies tobacco, drugs, and alcohol. There were no complications at delivery. The pt weighed 7'6" oz at birth and has gained weight. The infant has been feeding and sleeping well. On PE the pt has hyperteloriam, low-set ears, micrognathia, and a fish mouth. Dx?
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DiGeorge Syndrome
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List 5 Defects of Antibody Production
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1. Bruton Agammaglobulinemia
2. Common Variable Immune Deficiency 3. Selective IgA Deficiency 4. Transient Hypogammaglobulinemia of Infancy 5. IgG Subclass Deficiency |
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What is major Defect of Cellular Immunity?
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DiGeorge Syndrome
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A 1 year old infant presents to his physician with severe eczema. On PE, the pt is noted to have draining ears as well as a petechial rash. Review of the medical record reveals that the pt has recurrent infections, including otitis media and pneumonia. Dx?
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Wiskott-Aldric Syndrome
Mr. Text IgM low Recurrent infection Thrombocytopenia Eczema X-linked T and B cell deficiencies Decreased IgM |
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A 3 year old child presents with ataxia, mask-like facies, drooling tics, and irregular eye movements. According to the mother, the ataxia began at approximately 1 year of age. On examination of the pt's eyes, he is noted to have telangiectasias. In addition, he also has a history of recurrent respiratory infections. Dx?
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Ataxia-Telangiectasia
Decreased IgA (mostly) |
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What is the major difference btw combined immunodeficiency's and SCID?
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SCID: Absence of all adaptive immune function (no T-cell function)
Combined: low T-cell function |
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What are the most important congenital etiologies of cataracts?
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Prematurity (disappear wks)
Inherited (most dominant) Congenital infection (TORCH, RUBELLA, measles, polio, influenza, varicella, vaccinia) Galactosemia Chromosomal Drugs, toxins, trauma |
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A 12 hour old newborn is noted to have bilateral conjunctival injection, tearing, and some swelling of the left eyelid. PE is otherwise normal. Dx?
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Chemical Conjunctivitis
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3 most common cause of conjunctivitis and the timing of presentation.
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Chemical: first day
Gonorrhea: first week Chlamydia: second week (most common) |
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A 7 year old boy presents with swelling around the eye 2 days after suffering an insect bite to the eyelid. There is edema, erythema, and proptosis of the eye. Marked limitation of eye movements are noted. He has a low grade fever. Dx?
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Orbital Cellulitis
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A 4 year old child is seen in the office with a 3 day history of fever and cold symptoms and now complains of right ear pain. PE is remarkable for a bulging tympanic membrane with loss of light reflex and landmarks. Dx?
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Otitis media
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A 4 year old child is seen in the office with a 3 day history of fever and cold symptoms and now complains of right ear pain. PE is remarkable for a bulging tympanic membrane with loss of light reflex and landmarks. Dx?
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Otitis media
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A newborn is noted to by cyanotic in the wellborn nursery. On stimulation, he cries and becomes pink again. The nurse has difficulty passing a catheter through the nose. Dx?
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Choanal atresia: unilateral or bilateral bony (most) or membranous septum between NOSE and PHARYNX
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An 8 year old child has repested episodes of nosebleeds. Past history, family history, and physical examination are unremarkable. Dx?
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Epistaxis (nose bleeds)
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An 8 year old girl complains of acute sore throat of 2 day's duration, accompanied by fever and mild abdominal pain. PE reveals enlarged, erythematous tonsils with exudate and enlarged, slightly tender cervical lymph nodes. Dx?
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Acute Pharyngitis
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A 5 year old is brought to the physician bc her mother states that the child snores and keeps the other family members awake at night. She also stops breathing each night for approximately 20 sec and then wakes from sleep. In addition, the mother states that the child is not growing well and has poor school performance. On PE, the pt is pleasant and in no apparent distress. Pertinent physical findings include mouth breathing, a hyponasal voice, and 4+ tonsils without exudates. Dx?
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Obstructive sleep apnea and hypoventilation
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A 5 year old boy is seen for routine PE. Parents voice no concerns. Weight and height are at the 75th %tile. Vital signs are normal. PE is remarkable for a soft musical 2/6 murmur best heard at the left lower sternal border. Dx?
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Innocent murmur: functional, normal, insignificant, or flow murmurs.
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A 3 month old child presents with poor feeding, poor weight gain, and tachypnea. PE reveals a harsh, pansystolic 3/6 murmur at the left lower sternal border, and hepatomegaly. Dx?
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Ventricular Septal Defect (VSD)
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3 Left to Right Shunts
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VSD, ASD, Patent Ductus
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Defined Endocardial Cushion Defect
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Both ASD and VSD occurs contiguous and atrioventricular valves are abnormal
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3 Stenotic Cardac Lesions
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Aortic Stenosis
Pulmonic Stenosis Coarctation |
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A 6 month old infant is prone to episodes of reatlessness, cyanosis, and gasping respirations. Sx resolve when he is places in the knee-chest position. PE reveals an underweight infant, with a harsh holosystolic murmur and a single second heart sound. Dx?
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Tetralogy of Fallot (TOF)
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3 Cyanotic (Right to Left) Shunts
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Tetralogy of Fallot
Transposition Tricuspid Atresia |
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A 6 year old has had high intermittent fevers for 3 weeks, accompanied by chills. He has a past history of bicuspid aortic valves and recently had dental work. Dx?
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Infective Endocarditis
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Infective Endocarditis: Streptococcus Viridans Tx
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- Penicillian G X 4wks
- Penicillin (or ceftriaxone) plus Gentamicin X 2wks |
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Infective Endocarditis: Enterococci (Group D) Tx
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- Ampicillin plus gentamicin X 4-6 wks
- Penicillin Allergic: Vancomycin plus gentamicin for 4-6 wks |
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Infective Endocarditis: Staphylococcus Aureus Tx
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- Nafcillin or oxacillin plus 5 days of gentamicin for 4-6 wks
- Prosthetic: Vancomycin and gentamicin (may add rifampin) 4-6 wks |
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Infective Endocarditis: Methicillin-resistant S. aureus Tx
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Vancomycin (may add Trimethoprim/Sulfamethoxazole) for 4-6wks
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Infective Endocarditis: HACEK organism Tx
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Ceftriaxone (3rd gen cephalosporin) for 4 wks (6wks in prosthetic valves)
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Infective Endocarditis: Staphylococcus Epidermidis Tx
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Vancomycin (may add rifampin) for 6 wks
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HACEK organisms
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Hemophilus spp.
Actinobacillus Actinomycetemcomitans Cardiobacterium hominus Eikenella corrodens Kingella kingae |
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A 6 year old girl complains of severe joint pain in her elbows and wrists. She has had fever for the past 4 days. Past history reveals a sore throat 1 month ago. PE is remarkable for swollen, painful joints and a heart murmur. Lab tests show an elevated erythrocyte sedimentation rate and high antistreptolysin titers. Dx?
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Acute Rheumatic Fever
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A 7 year old girl presents to the office with a 3 week hx of pregressive dyspnea, malaise, and fatgue. She has recently recovered from a viral syndrome. PE examination is remarkable for a holosystolic murmur and hepatomegaly. Dx?
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Myocarditis
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A 5 year old girl is noted to have blood pressure above the 95th percentile on routine PE. The rest of the examination is unremarkable. Her blood pressure remains elevated on repeat measurement over the next few weeks. Past history is remarkable for a treated UTI 1 year ago. CBC is normal, UA is normal. Blood urea nitrogen is 24 mg/dL and creatinine is 1.8 mg/dL. Dx?
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Hypertension
Common Cause: renal dx, coarctation, endocrine, medications |
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Most common cause of diarrhea in infancy.
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Rotavirus
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Common causes of bloody diarrhea.
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Campylobacter
Amoeba (E. histolytica) Shigella E. coli Salmonella |
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A 4 month old is admitted with episodes of apnea occurring 20-30 min after feeds. The mother states the baby has been spitting up since birth. She is at the 5th percentile for weight. Dx?
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GERD
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A 4 week old boy has nonbilious projectile vomiting. PE is remarkable for a small mass palpated in the abdomen. Dx?
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Pyloric Stenosis
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A newborn presents with bilious vomiting with every feed. Abdominal film reveals a double bubble. Dx?
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Duodenal Atresia
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A 2 year old boy presents with a 1 week hx of painless rectal bleeding. PE is unremarkable. The abdomen is soft and nontender. Rectal examination is unremarkable. Dx?
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Meckel Diverticulum
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A 15 month old child seen for cramping, colicky abdominal pain of 12 hour duration. He has had two episodes of vomiting and a fever. PE is remarkable for a lethargic child; abdomen is tender to palpation. Leukocytosis is present. During examination, the pt passes a bloody stool with mucus. Dx?
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Intussusception
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A 13 year old girl complains of chronic, cramping abdominal pain and diarrhea. She has noticed occasional blood in her stools. She has had fever off and on for 3 months and has complained of persistent right wrist pain. CBC shows anemia, and her sedimentation rate is elevated. DX?
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Inflammatory Bowel Disease - Crohn Disease
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A 6 year old boy complains of hard bowel movements every fifth day. PE reveals normal weight and height. Abdomen is soft, and hard stool is palppable on rectal examination. Dx?
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Functional Constipation
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A 12 day old infant presents with fever of 39C (102F), vomiting, and diarrhea. On PE, the infant appears to be ill and mildly dehydrated. Dx?
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Urinary Tract Infections
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A 2 year old girl presents with UTI. She has had multiple UTI since birth but has never had any follow-up studies to evaluate these infections. PE is remarkable for an ill-appearing child who has a temperature of 40C (104F) and is vomiting. Dx?
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Vesicoureteral Reflux
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A 10 year olf boy presents with Coca-Cola colored urine and edema of his lower extremities. On PE, the pt has a BP of 185/100 mm Hg. He does not appear to be in any distress. His lung are clear to auscultation , and his heart has a RRR with out M/R/R. His past medical history is remarkable for a sore throat that was presumed viral by his physician 2 weeks before. Dx?
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Acute Poststreptococcal Glomerulonephritis
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The school nurse refers a 7 year old boy because he failed his hearing test at school. The men in this pt's family have a history or renal problems, and a few of his maternal uncles are deaf. A UA is obtained from the pt, which shows microscopic hematuria. Dx?
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Alport Syndrome
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A 6 year old boy complains of hard bowel movements every fifth day. PE reveals normal weight and height. Abdomen is soft, and hard stool is palppable on rectal examination. Dx?
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Functional Constipation
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A 12 day old infant presents with fever of 39C (102F), vomiting, and diarrhea. On PE, the infant appears to be ill and mildly dehydrated. Dx?
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Urinary Tract Infections
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A 2 year old girl presents with UTI. She has had multiple UTI since birth but has never had any follow-up studies to evaluate these infections. PE is remarkable for an ill-appearing child who has a temperature of 40C (104F) and is vomiting. Dx?
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Vesicoureteral Reflux
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A 10 year olf boy presents with Coca-Cola colored urine and edema of his lower extremities. On PE, the pt has a BP of 185/100 mm Hg. He does not appear to be in any distress. His lung are clear to auscultation , and his heart has a RRR with out M/R/R. His past medical history is remarkable for a sore throat that was presumed viral by his physician 2 weeks before. Dx?
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Acute Poststreptococcal Glomerulonephritis
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The school nurse refers a 7 year old boy because he failed his hearing test at school. The men in this pt's family have a history or renal problems, and a few of his maternal uncles are deaf. A UA is obtained from the pt, which shows microscopic hematuria. Dx?
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Alport Syndrome
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A 3 year old child presents to ER with history of bloody diarrhea and decreased urination. The mother states that the child's symptoms began 5 days ago after the family ate at a fast-food resaurant. At the time the pt developed fever, vomiting, abdominal pain, and diarrhea. On PE, the pt appears ill. He is pale and lethargic. Dx?
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Hemolytic Uremic Syndrome (HUS)
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A 3 year old child presents to the physician with a chief complaint of puffy eyes. On PE, there is no erythema or evidence of trauma, insect bite, cellulitis conjunctival injection, or discharge. Dx?
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Nephrotic Syndrome
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A 2 month old pt appears to be having indequate weight gain. His mother states he is constipated. On examination, he has decreased muscle tone, a large fontanel, a large tongue, and an umbilical hernia. Dx?
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Hypothyroidism
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A 12 year old girl has a 6 month of hyperactivity and declining school perforance. Appetite is increased; but she shows no weight gain. PE reveals a slight tremor of the finger, mild exophthalalmos, and a neck neck mass. Dx?
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Hyperthyroidism
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A 1 month old infant is seen with vomiting and severe dehydration. PE reveals ambiguous genitalia genitalia; labortory test show hyponatremia. Dx?
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Congenital Adrenal Hyperplasia
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An 8 year old boy in the ER department with vomiting and abdominal pain of 2 days' duration. His mother states he has been drinking a lot of fluids for the past month, and reports weight loss furing that time. PE reveals a low-grade fever, and a moderately dehydrated boy who appears acutely ill. He is somnolent but asks for water. Respirations are rapid and deep. Laboratory tests reveals a metabolic acidosis and hyperglycemia. Dx?
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Diabetes Mellitus
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A 5 year old boy has developed progressive limping. At first painless, it now hurts to run and walk. The pain is in the anterior thigh. The pain relieved by rest. Parents recall no trauma. Dx?
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Legg-Calve-Perthes Disease
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A newborn is noted to have a foot that is stiff and slightly smaller than the other one. The affected foot is medially rotated and very stiff, with medial rotation the heel. Dx?
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Talipes Equinoarus (Clubfoot)
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A 12 year old girl is seen for routine PE. She voices no complaints. Examination is remarkable for asymmetry of the posterior chest wall on bending forward. One shoulder appear higher than the other when she stands up. Dx?
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Scoliosis
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A 7 year old girl has been complaining of pain and swelling of the left wrist and right knee off and on for the past 3 months. She has been previously healthy. The pain is worse in the morning and improves throughout the day. PE is remarkable for swelling and effusion of the right knee, with decreased range of motion. Dx?
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Juvenile Rheumatoid Arthitis (Idipathic Rheumatoid Arthritis)
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A 10 year old girl presents with fever, fatigue, and joint pains. PE is remarkable for a rash on the cheeks, sweeling of the right knee, and a pericardial friction rub. Initial lab test reveal anemia and an elevated BUN and creatinine. Dx?
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Systemic Lupus Erythematosus
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An 18 month old has had fever for 10 days. He now has conjunctival, a very red tongue and cracked lips, edema of the hands, and a truncal rash. Dx?
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Kawasaki Disease
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A 5 year old boy is seen maculopapular lesions on the legs buttocks. He complains of abdominal pain. He has recently recovered from a viral upper infection. CBC, Coagulation studies, and electrolytes are normal. Microscopic hematuria is present in UA. Dx?
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Henoch-Schonlein Purpura (HSP)
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An 18 month old child of Mediterranean origin presents to the physician for routine well-care. The mother states that the child is a "picky" eater and prefers milk to solids. In fact, the mother states that the pt, who still drinks from a bottle, consumes 64 oz of cow milk per day. The child appear pale. Hb and Hct were measured; and the Hb is 6.5 g/dL and the Hct is 20%. The MCV is 65fL. Dx?
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Iron-Deficiency Anemia
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A 2 week old on routine PE is noted to have pallor. The birth history was uncomplicated. The pt has been doing well according to the mother. Dx?
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Congenital Pure Red-Cell Anemia (Blackfan-Diamond)
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A 2 year old presents to the physician with aplastic anemia. The pt has microcephaly, microphthalmia, and absent radii and thumbs. Dx?
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Congenital Pancytopenia
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A 2 year old boy presents to the physician's office for an ear check. The child had an ear infection that was treated with trimethaprim-sulfamethoxazole 3 weeks earlier. On PE, the pt is noted to be extremely pale. Hb and Hct were obtained and are noted to be 7 g/dL and 22%. Dx?
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Glucose-6-Phosphate Dehydrogenase (G6PD)
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A 6 month old, African-American infant presents to the pediatrician with painful swollen hands and swollen feet. Dx?
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Sickle Cell Anemia
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A year old has greenish-brown complexion, maxilary hyperplasia, splenomegaly, and gallstones. Her Hb level is 5 g/dL and she has an MCV of 65 mL. Dx?
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Beta Thalassemia Major (Cooley Anemia)
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A newborn infant has prolonged bleeding after circumcision. There is no family history of bleeding disorder. Dx?
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Hemophilia A
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A 2 year old presents to the pediatrician and is noted to have excessive bruising during PE. The mother says that the child's skin is very sensitive to bruising. She also notes that the child has epistaxis. There is a family history of bleeding. Dx?
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Hemophilia B
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A 4 year old child previously healthy presents with petechiae, purpura, and excessive bleeding after failing from his bicycle. Dx?
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Immune Thrombocytopenic Purpura (ITP)
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A 5 year old pt is brought to the physician's office with the chief complaint of a limp. The pt on PE has a low grade fever, URI symptoms, hepatosplenomegaly, and petechiae. Dx?
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Acute Lymphoblastic Leukemia
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A 6 year old boy presents to his primary care provider with a nonproductive cough. The PCP makes the dx of an URI. However, the pt's sx persist, and he returns to his PCP. At this visit the pt wheezing and the PCP makes the dx of reactive airway dx and prescribes an inhaled b2 agonist. The medication does not improve the sx; and the pt returns to the PCP for a third time. The pt is now complaining of cough and a low-grade fever. The pt is dx with clinic pneumonia; and an antibiotic is prescribed. Two days later the pt presents to the ER in respiratory distress. A chest roentgenogram shows a large mediastinal mass. Dx?
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Non-Hodgkin Lymphoma
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A 16 year old year boys presents with complaints of weight loss, fever, and night sweats. On PE, he noted to have a nontender cervical lymph node that is 4-5 cm. Dx?
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Hodgkin Lymphoma
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A 10 year old child presents to the presents to the physician because of a new onset seizure. The pt has a 1 month hx of severe headache and a progressively worsening wide-based gait. Dx?
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Benign Astrocytoma
Most common: juvenile pilocytic astrocytoma |
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A 6 year old child presents to the pediatrician because of headache and persistent emesis for the past week that is not assoicated with fever or abdominal pain. Dx?
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Medulloblastoma
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A 9 year old child is brought to the physican by her parents because of personally change. The parents state that over the past month the child has becomes very aggressive, i.e. arguing, hitting, and biting other children. Her grades have dropped from straight As to failings. This behavior is qutie out of character for their intelligent, outgoing, and friendly daughter. Dx?
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Brain-stem Tumors
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