Pediatrics: UWorld Flashcards

Question

What presents at birth with hepatosplenomegaly, cutaneous lesions, jaundice, anemia, and rhinorrhea?

Answer 1

Congenital syphilis ## Footnote *Radiographs show metaphyseal dystrophy and periostitis. Late congenital manifestations (presenting after 2 years of age) include frontal bossing, high arched palate, hutchinson teeth, interstitial keratitis, saddle nose, and perioral fissures.*

Answer 2

Posterior urethral valves ## Footnote *Classic findings on prenatal ultrasound include bladder distension, bilateral hydroureters, and bilateral hydronephrosis.*

Answer 3

Fibromuscular dysplasia ## Footnote *The most common cause of secondary hypertension in children is fibromuscular dysplasia. It is responsible for approximately 20% of all cases of renal hypertension. Physical examination reveals a hum or bruit in the costovertebral angle due to well-developed collaterals. The right renal artery is more affected than the left. Angiogram will reveal the "string of beads" sign to the renal artery.*

Answer 4

Reassurance and gentle handling ## Footnote *Most clavicular fractures heal rapidly without complications.*

Answer 5

Erythromycin for 14 days *This is regardless of age, immunizations, or symptoms. Pertussis is a highly contagious disease despite immunization (despite immunization, over 75% of household contacts will develop some symptoms of pertussis if exposed)*.

Answer 6

Systemic Lupus Erythematosus (SLE) ## Footnote *The confirmatory tests for SLE are anti-Smith antibody test and anti-double stranded DNA (dsDNA) test.*

Answer 7

Meningococcal meningitis ## Footnote *It typically presents with fever, headache, neck stiffness, altered mental status, and a petechial or purpuric rash.*

Answer 8

Caput succedaneum ## Footnote *It usually involves the portion of the head presenting during vertex delivery.*

Answer 9

Tricuspid valve atresia The decreased pulmonary markings on chest radiograph are due to hypoplasia of the right ventricle and pulmonary outflow tract.

Answer 10

Cherry hemangioma ## Footnote *This consists of dilated capillaries and post-capillary venules in the papillary dermis and do not regress spontaneously.*

Answer 11

Fetal hydantoin syndrome ## Footnote *Pregnant women on phenytoin during their last trimester often receive prophylactic vitamin K to prevent neonatal bleeding as phenytoin may increase the rate of fetal vitamin K degradation.*

Answer 12

Cephalohematoma ## Footnote *This is a subperiosteal hemorrhage. Most cases do not require any treatment and resorb spontaneously within 2 weeks to 3 months, depending on the size.*

Answer 13

Sickle Cell Trait *Most patients with sickle cell trait lead normal, healthy lives. Painless hematuria (resulting from sickling in the renal medulla) is the most common complication.* *Isosthenuria (impairment in concentrating ability) is also common and can present as nocturia and polyuria. Less commonly, there may be an increased risk of urinary tract infections, particularly during pregnancy. Splenic infarctions are uncommon but can occur at high altitudes.*

Answer 14

Autosomal Dominant ## Footnote *It results from mutations of the fibrillin-1 (FBN1) gene.*

Answer 15

Flexible laryngoscopy ## Footnote *This shows collapse of the supraglottic structures during inspiration. Laryngomalacia usually peaks at age 4-8 months, and then self-resolves by age 18 months.*

Answer 16

Phenylketonuria ## Footnote *This is an inborn error of metabolism of phenylalanine, wherein phenylalanine hydroxylase is the deficient enzyme. This deficiency results in the build-up of phenylalanine an its metabolites (phenyl ketones) in the blood and body fluids.*

Answer 17

Friedreich ataxia ## Footnote *The most common causes of death are cardiomyopathy and respiratory complications.*

Answer 18

Newborns have mostly fetal hemoglobin ## Footnote *Fetal hemoglobin is comprised of alpha and gamma globin chains. After 6 months of age, symptoms of hemolytic anemia emerge as gamma globin chains are replaced with beta for the production of adult hemoglobin.*

Answer 19

The vermis (cerebellum)

Answer 20

Pellagra (Niacin deficiency) ## Footnote * Patients with pellagra typically present with gastrointestinal complaints (nausea, abdominal pain, or epigastric discomfort) along with glossitis and watery diarrhea. The characteristic dermatitis seen in pellagra occurs in sun exposed areas and resembles a sunburn; it is also typically bilateral and symmetric. As the rash progresses, the skin becomes hyperpigmented and thickened. Mental status changes can range from poor concentration to irritability, aggressiveness, and dementia. Death can occur in severe niacin deficiency if not treated with niacin replacement.* * Niacin = vitamin B₃*

Answer 21

Ethosuximide or Valproic acid ## Footnote *Ethosuximide affects the thalamic neurons by working against calcium currents. The possible side effects are drowsiness, nausea, vomiting, hyperactivity or sleep disturbance. Ethosuximide is not useful for the treatment of generalized tonic-clonic and partial epilepsy.*

Answer 22

Riboflavin (Vitamin B₂) deficiency ## Footnote *This is rare in industrialized nations, but has been documented in regions of the world with severe food shortages.*

Answer 23

Infants with a history of intussusception ## Footnote *These infants should not recieve the vaccine, as it is associated with a small risk of intussusception.*

Answer 24

Waterhouse-Friderichsen syndrome ## Footnote *The condition carries an almost 100% mortality.*

Answer 25

Duodenal atresia ## Footnote *It is usually associated with other congenital anomalies, and can be a feature of Down's syndrome.*

Answer 26

Bullous myringitis

Answer 27

Rubella ## Footnote *Vaccination is important to prevent infection of vulnerable pregnant women due to the risk of debilitating congenital rubella syndrome.*

Answer 28

A low phenylalanine diet ## Footnote *Small amounts of phenylalanine are still necessary for growth and development. High-protein foods should be avoided. Early diagnosis and treatment can improve the prognosis, with most (treated) patients having normal mental development and a normal life span.*

Answer 29

Aspirin and intravenous immunoglobulin ## Footnote *Although Kawasaki disease is self-limited, treatment with aspirin and intravenous immunoglobulin should be started within 10 days of fever onset to prevent cardiac complications. A baseline echocardiography should be performed in all patients with suspected Kawasaki disease and repeated 6-8 weeks later to monitor for any changes.*

Answer 30

Tay-Sach's disease ## Footnote *This is a sphingolipidosis due to beta-hexosaminidase A deficiency.*

Answer 31

Cystic Fibrosis ## Footnote *Sweat chloride testing by quantitative pilocarpine iontophoresis is the gold standard for diagnosis.*

Answer 32

Sturge-Weber disease

Answer 33

Oral Amoxicillin ## Footnote *Doxycycline is contraindicated in children age \< 8 years old and pregnant women. It can slow bone growth in exposed fetuses and cause enamel hypoplasia and permanent teeth stains during tooth development in young children. Amoxicillin is as efficacious as oral doxycycline at treating Lyme disease. Doxycycline is used in adults because it is effective in treating potential coexisting Anaplasma phagocytophilum infection, which is also transmitted by the ixodes tick.*

Answer 34

Osteogenesis imperfecta ## Footnote *This is a connective tissue disorder most commonly inherited from an autosomal dominant mutation of COL1A1. The disorder has a varying spectrum of severity, from mild (type-I), moderate (types III-IX), to fatal perinatal (type II) disease.*

Answer 35

Premature androgen secretion of the adrenal glands ## Footnote *The condition is generally benign and has no clinical significance. Premature pubarche (pubic hair before the age of 8) on the other hand is more alarming, as it is associated in 50% of cases with a CNS disorder.*

Answer 36

Autosomal recessive ## Footnote *The pathology involves a deficiency in phenylalanine hydroxylase, the enzyme that breaks down phenylalanine into tyrosine. This deficiency leads to the accumulation of phenylalanine and its metabolic products in the blood and body tissues (particularly in the brain).*

Answer 37

Marfan syndrome ## Footnote *This is an autosomal dominant disorder.*

Answer 38

Otitis media with effusion lacks acute inflammatory signs ## Footnote *These signs include fever, bulging of the tympanic membrane, and erythema of the tympanic membrane.*

Answer 39

1. Active untreated tuberculosis (mothers may breastfeed after 2 weeks of antituberculin therapy) 2. HIV infection (in developed countries where formula is readily available) 3. Active abuse of street drugs or alcohol 4. Herpetic breast lesions 5. Varicella infection (between 5 days prior to delivery to 2 days after delivery) 6. Certain medications (including chemotherapy)

Answer 40

Clavicle fracture ## Footnote *Absent moro, biceps, and grasp reflexes would raise concern for C5-C7 damage (eg Erb-Duchenne paralysis). An absent moro reflex in the setting of preserved biceps and grasp reflexes make nerve injury unlikely. Physical exam will most likely reveal crepitus and irregularity in the region of the clavicle.*

Answer 41

Wiskott-Aldrich Syndrome (WAS) ## Footnote *This is an X-linked recessive disease caused by a defective gene encoding for Wiskott-Aldrich syndrome protein (WASP). The initial manifestations often present at birth and consist of petechiae, bruises, bleeding from circumcision, or bloody stools. Immunologic findings include low IgM levels, high IgA and IgE levels, poor antibody responses to polysaccharide antigens, and moderately reduced number of T cells and platelets.*

Answer 42

Diamond-Blackfan anemia ## Footnote *The primary pathology is an intrinsic defect of erythroid progenitor cells which results in increased apoptosis. 90% of cases are diagnosed within the first year of life, with the average age of diagnosis being 3 months.*

Answer 43

Antibody-mediated (type II) hypersensitivity ## Footnote *Examples of these types of reactions are immune hemolytic anemia and Rh hemolytic disease in the newborn.*

Answer 44

Ewing sarcoma ## Footnote *The incidence is highest in adolescent males and up to 20% of patients may have systemic symptoms. X-ray shows an osteolytic lesion with periosteal reaction that produces layers of reactive bone, giving the classic "onion skin" appearance.*

Answer 45

Macrolide antibiotics ## Footnote *This includes azithromycin, clarithromycin etc. Antibiotics are most effective during the catarrhal (1st) phase and less effective in the paroxysmal (2nd) and convalescent (3rd) phases. The first (catarrhal) phase includes nonspecific symptoms (malaise, mild fever, cough, rhinorrhea) and lasts 1-2 weeks. The 2nd (paroxysmal) phase occurs next and usually presents with severe paroxysms of coughing spells that can lead to post-tussive emesis. The 3rd (convalescent) phase typically presents with gradually decreasing frequency and severity of cough. The total duration of all 3 phases is usually about 3 months if untreated.*

Answer 46

Cyclical vomiting ## Footnote *The etiology of this condition is unclear, however, its incidence is high in children whose parents have a history of migraine headaches. Treatment consists of anti-emetics and reassurance of the parents.*

Answer 47

Immune complex-mediated (Type III) hypersensitivity ## Footnote *Examples of this reaction are serum sickness and the Arthus reaction.*

Answer 48

Sever combined immune deficiency ## Footnote *The patient will also have abnormal T, B, and natural killer cell enumeration by flow cytometric analysis.*

Answer 49

Complex partial seizures

Answer 50

Entrapment of the brachial artery ## Footnote *This will result in loss of the radial artery pulse. After reduction of the fracture, the radial pulse must be assessed.*

Answer 51

Plasmapheresis or human immunoglobulin ## Footnote *Recovery follows the inverse order of the initial progression of the disease.*

Answer 52

Osgood-Schlatter disease ## Footnote *Radiographic findings include anterior soft tissue swelling, lifting of tubercle from the shaft, and irregularity or fragmentation of the tubercle.*

Answer 53

Cholesteatoma ## Footnote *Cholesteatomas in children can either be congenital or acquired secondary to chronic middle ear disease. Granulation tissue and skin debris may be seen within retraction pockets of the tympanic membrane on otoscopy.*

Answer 54

Guillain-Barre syndrome ## Footnote *The underlying pathology involves mainly the peripheral motor nerves, although sensory and autonomic nerves may also be affected.*

Answer 55

Simple partial seizure

Answer 56

Fibromuscular dysplasia ## Footnote *It is responsible for approximately 20% of all cases of renal hypertension.*

Answer 57

1. Strabismus 2. Ambylopia 3. Refractive errors ## Footnote *Early diagnosis and treatment are being emphasized, because poor visual acuity resulting from the above conditions may impair a child's future academic performance and self-image, and may even lead to blindness.*

Answer 58

Bilateral acoustic neuromas

Answer 59

Pyloric stenosis

Answer 60

Intussusception

Answer 61

Sideroblastic anemia

Answer 62

A viral illness (especially Coxsackievirus B and adenovirus) ## Footnote *The pathogenesis is thought to be direct viral injury and autoimmune inflammation that leads to myocyte necrosis with subsequent impairment of systolic and diastolic function.*

Answer 63

Congenital rubella syndrome

Answer 64

Werdnig-Hoffman syndrome ## Footnote *It is a cause of "floppy baby" syndrome (the other cause is infant botulism).*

Answer 65

Strawberry hemangioma ## Footnote *This tumor is composed of capillaries separated by connective tissue.*

Answer 66

Croup (laryngotracheobronchitis) ## Footnote *This is the most common cause of inspiratory stridor in children age 6 months to 3 years. It is most often caused by the parainfluenza virus. It responds to treatment with racemic epinephrine and corticosteroids.*

Answer 67

Macrolide antibiotics for 14 days ## Footnote *Erythromycin, azithromycin, or clarithromycin.*

Answer 68

Krabbe's disease ## Footnote *This is a sphingolipidosis due to a deficiency in beta-galactosidase, which results in a total absence of myelin.*

Answer 69

Chronic granulomatous disease ## Footnote *In this condition, the classic nitroblue tetrazolium test is negative (abnormal). The dihydrorhodamine 123 test is more sensitive and can quantify the severity of illness.*

Answer 70

Optic neuritis ## Footnote *It most commonly affects 1 eye and is associated with multiple sclerosis.*

Answer 71

Retropharyngeal abscess ## Footnote *On a normal lateral neck x-ray, the prevertebral soft-tissue space should be narrower than the vertebral bodies. A lateral x-ray showing a widened prevertebral space is suggestive of a retropharyngeal abscess. Due to the proximity of the airway, spine, and major vascular structures, infections in this region are potentially life-threatening. In patients with no signs of respiratory compromise, a computed tomography scan with contrast should be performed to confirm the presence and size of the abscess. The abscess is usually polymicrobial, involving streptococcus pyogenes, staphylococcus aureus, and anaerobes. It occurs most commonly in children age 6 months to 6 years. There is a decreased incidence after age 6 years.*

Answer 72

The brachial artery ## Footnote *The radial artery pulse must be assessed when the fracture is reduced.*

Answer 73

Generalized seizure

Answer 74

DiGeorge syndrome ## Footnote *Newborns with DiGeorge syndrome must be assessed immediately for potentially life-threatening hypocalcemia.*

Answer 75

Midgut volvulus ## Footnote *Volvulus is associated with malrotation of the gut, and can be complicated by perforation and peritonitis.*

Answer 76

Down Syndrome

Answer 77

Friedreich ataxia ## Footnote *This is an autosomal recessive disorder, and its symptoms usually begin before 22 years of age. It presents with neurologic, skeletal, and cardiac manifestations.*

Answer 78

Common variable immunodeficiency (CVID)

Answer 79

Friedreich Ataxia ## Footnote *This disorder is progressive with poor prognosis. Most patients are wheelchair bound by the age of 25, with death occurring by 30-35 years of age.*

Answer 80

Sodium bicarbonate ## Footnote *This drug not only helps to correct the acidosis, but also helps to narrow the QRS complex prolongation. A benzodiazepine is given when the patient presents with seizures that require treatment.*

Answer 81

Duodenal atresia ## Footnote *X-ray shows air trapped in the stomach and the first portion of the duodenum (double-bubble sign) and no distal intestinal gas. Management includes holding enteral feeds, decompression with a naso or oro-gastric tube and surgical repair.*

Answer 82

Type I diabetes mellitus

Answer 83

\< 3 years old ## Footnote *Opacities in this location in other children should raise concern for pneumonia or malignancy, depending on the clinical context.*

Answer 84

Neonatal cholestasis

Answer 85

Clubfoot ## Footnote *Treatment of clubfoot with serial casting should be started immediately.*

Answer 86

Guillain-Barre syndrome ## Footnote *Cerebrospinal fluid analysis reveals significantly elevated protein levels and mildly elevated cells (albumino-cytologic dissociation). The treatment is plasmapheresis or human immunoglobulin. Recovery follows the inverse order of the initial progression of the disease.*

Answer 87

Goodpasture's syndrome ## Footnote *This is caused by antibodies directed against the basement membrane. It typically present with pulmonary hemorrhage and glomerulonephritis.*

Answer 88

14-day course of erythromycin ## Footnote *This is true despite the risk of hypertrophic pyloric stenosis with oral erythromycin.*

Answer 89

Bordetella pertussis ## Footnote *During the first 4 weeks of illness, the diagnosis is confirmed by cultures and/or polymerase chain reaction of nasopharyngeal secretions. Serology is required in patients with \>4 weeks of symptoms. Treatment with macrolide antibiotics should be initiated based on clinical suspicion without waiting for the confirmatory diagnosis.*

Answer 90

Sturge-Weber syndrome

Answer 91

Infectious mononucleosis due to Epstein-Barr virus

Answer 92

Thalassemia trait (thalassemia minor) ## Footnote *The red cell distribution width, total iron-binding capacity, serum iron, and ferriting levels are typically normal. Treatment is not usually needed for mild to moderate anemia.*

Answer 93

Fragile X syndrome ## Footnote *This syndrome results from a full mutation in the FMR1 gene caused by an increased number of CGG trinucleotide repeats accompanied by aberrant methylation of the FMR1 gene.*

Answer 94

Ringworm (tinea corporis) ## Footnote *This is a superficial fungal infection best treated with topical antifungals such as terbinafine.*

Answer 95

Leukocyte adhesion defect type 1 *These patients also suffer from delayed separation of the umbilical cord, and they have a complete absence of neutrophils in inflamed or infected tissues.* *This syndrome is caused by deficient expression of CD18, an essential component of certain integrins present on the surface of leukocytes.*

Answer 96

Hemotympanum (barotrauma or blunt trauma to the ear)

Answer 97

Bilateral choanal atresia

Answer 98

Delayed (type IV) hypersensitivity reaction ## Footnote *Erythema, edema, pruritus, tiny vesicles and weepy or crusted lesions 24-48 hours after contact with the allergen.*

Answer 99

Iodine deficiency endemic goiter ## Footnote *This is essentially not seen in the United States.*

Answer 100

Small for destational age ## Footnote *The polycythemia results from increased erythropoietin secretion in response to fetal hypoxia. Hypocalcemia is thought to be caused by a decreased transfer of calcium across the placenta. Hypothermia is due to decreased subcutaneous fat and therefore impaired thermoregulation. Hypoglycemia occurs because of decreased glycogen stores.*

Answer 101

1. History of immediate anaphylaxis with previous DTAP administration 2. Unstable neurologic disorders 3. History of encephalopathy within a week of administration of the DTaP vaccine

Answer 102

Henoch-Schonlein purpura ## Footnote *This is an immunoglobulin A-mediated vasculitis of the small vessels that is most common in children.*

Answer 103

Fabry's disease ## Footnote *This is a sphingolipidosis that results from a deficiency of alpha-galactosidase.*

Answer 104

Wilms tumor *This is the most common pediatric renal malignancy*.

Answer 105

Chronic pyelonephritis

Answer 106

1. Streptococcus pneumoniae (~30%) 2. Nontypeable haemophilus influenzae (~30%) ## Footnote *The third most common is Moraxella catarrhalis (~10%). Because of increasing beta-lactamase resistance, the treatment of choice is amoxicillin-clavulanic acid.*

Answer 107

1. Moisturizers 2. Antifungals 3. Topical steroids ## Footnote *This is a common pediatric skin conditions characterized a by papular, scaly rash that tends to affect the eyebrows, nasolabial folds, and scalp.*

Answer 108

Medulloblastoma ## Footnote *The patient presents with posterior Vermis syndrome (truncal dystaxia). Medulloblastoma represents 7% of primary brain tumors, and is the second most common posterior fossa tumor (after cerebellar astrocytoma) in children. It is highly radiosensitive and can metastasize through the CSF tract. Over 90% of medulloblastomas develop in the vermis.*

Answer 109

Humerus and femur ## Footnote *Osteonecrosis is a common complication of sickle cell anemia due to vaso-occlusion of the bone. It causes significant joint pain and functional limitation.*

Answer 110

IgA deficiency ## Footnote *Diagnosis may be confirmed by measurement of a low serum IgA concentration with normal serum IgM and IgG levels.*

Answer 111

Epiglottitis ## Footnote *Airway obstruction is the most concerning potential complication of epiglottitis, and often requires nasotracheal intubation. In unimmunized children, H. influenzae type b is a likely cause.*

Answer 112

Cavernous hemangioma

Answer 113

Aseptic necrosis of the femoral head ## Footnote *This is a common complication of sickle cell disease. It involves occlusion of end arteries supplying the femoral head, bone necrosis, and eventual collapse of the periarticular bone and cartilage. The femoral head has two main sources of blood supply: ascending arteries and the foveal artery, which lie within the ligamentum teres. The foveal artery is patent early in life, but may become obliterated in older patients. This explains why aseptic necrosis of the femoral head is uncommon in children.*

Answer 114

Neonatal tetanus ## Footnote *Affected infants initially present in the first two weeks of life with poor suckling and fatigue, followed by rigidity, spasms and opisthostonus.*

Answer 115

Neonatal tetanus ## Footnote * Neonatal tetanus is often generalized and invariably fatal, if left untreated. The onset is generally within the first 2 weeks of birth, and is characterized by poor suckling and fatigue followed by rigidity, spasms and opisthotonus. The mortality rate is very high due to apnea (in the first week of life) and septicemia (in the second week).* * Opisthotonus = Hyperextension and spasm of the head, neck, and back*

Answer 116

Mixed seizures ## Footnote *Lamotrigine is used as a first-line agent for mixed seizures, and as a second-line drug for generalized tonic-clonic and partial seizures.*

Answer 117

Prolymphocytic leukemia ## Footnote *This is a chronic lymphocytic leukemia (CLL) variant.*

Answer 118

Fanconi's anemia ## Footnote *Blood counts start to decrease between 4 and 12 years of age, and the initial manifestation is usually thrombocytopenia, followed by neutropeina, then anemia.*

Answer 119

1. Hernia persists to the age of 3 or 4 years 2. Hernia exceeds 2 cm in diameter 3. Hernia causes symptoms or becomes strangulated 4. Hernia progressively enlarges after the age of 1-2 years

Answer 120

Bruton's agammaglobulinemia

Answer 121

1. Birth to age 4 years: Abdominal ultrasound and alpha-fetoprotein levels every 3 months 2. Age 4-8 years: Abdominal ultrasound every 3 months 3. Age 8 years through adolescence: Renal ultrasound every 3 months ## Footnote *Vigilant surveillance is to rule out the development of Wilms tumor and hepatoblastoma.*

Answer 122

Iron ## Footnote *Preterm infants are at significantly increased risk for iron deficiency anemia. All exclusively breastfed infants should also be started on vitamin D supplementation.*

Answer 123

Lesch-Nyhan syndrome ## Footnote *Presentation is generally around age 6 months with hypotonia and persistent vomiting. This is an X-linked recessive disorder (all victims of Lesch-Nyhan syndrome are male) resulting from a deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT), an enzyme involved in purine metabolism. This deficiency results in increased levels of uric acid and its consequent accumulation in peripheral tissue. Gout is usually seen in patients above 50 years of age, therefore, suspect Lesch-Nyhan syndrome if you see a boy with gout.*

Answer 124

Minimal Change Disease ## Footnote *Light microscopy and immunofluorescence does not usually reveal any change in kidney architecture. Electron microscopy shows diffuse effacement of foot processes of podocytes. Steroids are the treatment of choice.*

Answer 125

The kidneys ## Footnote *The toxin released by E. Coli enters systemic circulation and injures the endothelial cells in the kidney.*

Answer 126

Legg-Calves-Perthes (LCP) disease ## Footnote *Initial x-rays may be negative. It can be clinically distinguished from transient synovitis by the duration of symptoms (1-4 weeks for transient synovitis vs \>1 month for LCP).*

Answer 127

Technetium-99m pertechnetate scan ## Footnote *In this test, the patient receives a tiny amount of intravenous technetium-99m, and a gamma camera highlights gastric mucosa and ectopic gastric tissue. Scintigraphy is noninvasive, highly sensitive and specific, and emits little radiation.*

Answer 128

Scarlet Fever ## Footnote *This is a toxin-related process, caused by a toxin-producing strain of group A streptococcus. It primarily occurs in children. Skin eruption is said to have a rough, sandpaper-like texture.*

Answer 129

Pompes disease (acid maltase deficiency) ## Footnote *This is type II glycogen storage disease. Heart failure occurs due to progressive hypertrophic cardiomyopathy.*

Answer 130

Reassure the parents ## Footnote *Breath holding spells are self-limited and should be treated with education and reassurance.*

Answer 131

150-300 words

Answer 132

Rheumatic fever ## Footnote *This is caused by group A streptococcus.*

Answer 133

Voiding cystourethrogram (VCUG) ## Footnote *Renal ultrasound is not a sensitive modality for detection.*

Answer 134

Beckwith-Wiedemann syndrome ## Footnote *This is an overgrowth disorder characterized by a predisposition to neoplasms. Most patients have a sporadic or inherited alteration of chromosome 11p15, which includes genes that encode insulin-like growth factor 2, a growth-promoting hormone similar to insulin.*

Answer 135

Staphylococcal Scalded Skin Syndrome ## Footnote *This is caused by exfoliative toxin-producing strains of S. Aureus. It ends with scaling and desquamation of the skin before resolution of the disease process. It typically affects children below age 10 years old, but adults with kidney disease or immune compromise may also be affected.*

Answer 136

Steroids ## Footnote *Patients respond dramatically to steroids. With 4-6 weeks of therapy, over 90% of children demonstrate complete remission with the disappearance of proteinuria.*

Answer 137

Echovirus and coxsazkievirus

Answer 138

C8 and T1 ## Footnote *Klumpke palsy is a rare but potentially permanent complication of shoulder dystocia. Injury to the 8th cervical and 1st thoracic nerves results in hand paralysis and ipsilateral Horner syndrome.*

Answer 139

Staphylococcus aureus ## Footnote *Cervical lymphadenopathy is common in children. Lymphadenitis is diagnosed when the lymph node becomes tender and erythematous in addition to bein enlarged. Although there are multiple causes for lymphadenopathy in children, the differential diagnosis can be narrowed by determining if the lymphadenopathy is acute or subacute/chronic, and if it is unilateral or bilateral. Acute, unilateral lymphadenitis in children is usually caused by a bacterial infection.*

Answer 140

Phenylketonuria ## Footnote *This is a qualitative (coloration) test which can detect the presence of metabolic products of phenylalanine in the urine.*

Answer 141

Galactosemia *Galactosemia is not a self-limiting condition. Failure to make an early diagnosis and to intervene can lead to severe and irreversible liver cirrhosis and mental retardation.* *Early diagnosis and treatment have been shown to affect the patient's eyesight. Bilateral cataracts may regress, and the eyesight of most patients are improved or normal.*

Answer 142

Common variable immunodeficiency (CVID) ## Footnote *The serum concentrations of IgG, IgA, IgM, and IgE, may be decreased, but there is no absence or decrease in the number of circulating B cells.*

Answer 143

Astrocytoma ## Footnote *Approximately 60% of brain tumors in children are infratentorial, 25% are supratentorial, and 15% arise in the midline. Astrocytomas are the most common histological type for both supra- and infra-tentorial groups.*

Answer 144

Erysipelas ## Footnote *In severe cases, there may be overlying vesicles and bullae. There may also be lymphangitic streaking away from the plaque. Group A streptococcus is the classic cause of erysipelas, but it may also be caused by other organisms. The face and lower extremities are common sites of involvement.*

Answer 145

The spleen ## Footnote *The pathogenesis involves antibodies that bind platelets, and subsequent destruction of these complexes in the spleen. When there is life-threatening bleeding, the spleen may need to be removed. The spleen is the site of destruction of the platelets and by excising it, the platelets are spared. It is rarely needed, but can be a life-saving measure.*

Answer 146

Complex partial seizure ## Footnote *The electroencephalogram (EEG) pattern is usually normal or may show brief discharges. Unlike in absence seizures, hyperventilation during the EEG cannot simulate a complex partial seizure.*

Answer 147

Von-Gierkes disease (Glucose-6-phosphatase deficiency) ## Footnote *This is type I glycogen storage disease. The spleen and heart are normal in this condition.*

Answer 148

Acetaminophen, nonsteroidal anti-inflammatories, and supportive management ## Footnote *Triptans may be tried if these measures are not effective.*

Answer 149

Transposition of the great vessels. ## Footnote *Because the aorta is located in front of the pulmonary artery, the S2 aortic component is better heard than is the soft S2 pulmonic valve component and is audible as a single S2. There is usually no murmur because the foramen ovale and ductus arteriosus have closed by the time cyanosis occurs. A patent foramen ovale or ductus arteriosus can maintain life after birth, but when they begin to close, decreased mixing of blood and poor oxygenation occur.*

Answer 150

Necrotizing enterocolitis ## Footnote *This is a similar presentation to malrotation with midgut volvulus . The two can be differentiated on abdominal x-ray. The hallmark x-ray finding in necrotizing enterocolitis is pneumatosis intestinalis. This is contrasted to other disorders such as milk protein-induced enterocolitis, which usually presents as blood-tinged stools in an otherwise healthy infant age 2-8 weeks after sensitization to milk protein. Clostridium difficile colitis rarely occurs in the first year of life and intussusception is rare in neonates.*

Answer 151

Galactosemia ## Footnote *This is a metabolic disorder caused by galactose-1-phosphate uridyl transferase deficiency, thereby leading to elevated blood levelso of galactose. The typical presentation is vomiting, poor weight gain, jaundice, hepatomegaly, convulsions, and cataracts. Other common manifestations include aminoaciduria, hepatic cirrhosis, hypoglycemia, and mental retardation. Early diagnosis and treatment by elimination of galactose from the diet are mandatory.*

Answer 152

Riboflavin deficiency ## Footnote *Riboflavin = vitamin B₂*

Answer 153

Osteoid osteoma ## Footnote *Pain is quickly relieved by nonsteroidal anti-inflammatory medications.*

Answer 154

1. Cystathionine synthase 2. Autosomal recessive

Answer 155

Myasthenia gravis

Answer 156

Tuberous sclerosis

Answer 157

Brain abscess *Siezures can be the initial manifestation in 25% of patients. This presentation differs from that of bacterial meningitis which presents with fever, headache, and lethargy but also presents with photophobia and nuchal rigidity.* *Brain imaging should be performed as the next step in diagnostic workup.*

Answer 158

1. Potassium 2. Phosphate 3. Uric acid ## Footnote *This can occur spontaneously in patients with massive lymphoma or leukemia burden or more commonly after initiation of chemotherapy. Measurement of electrolytes is extremely important but does not identify the underlying malignancy.*

Answer 159

Sickle Cell Disease ## Footnote *This is a hemoglobinopathy with an autosomal recessive inheritance.*

Answer 160

Meckel's diverticulum

Answer 161

Wiskott-Aldrich syndrome (WAS) ## Footnote *This is an X-linked disorder. Recurrent infections are usually due to streptococcus pneumoniae, neisseria meningitidis, and haemophilus influenzae. Eczema occurs in about half of all patients with WAS, and secondary skin infections are common. Despite these two features, however, thrombocytopenia is the most common manifestation of WAS, as over 90% of patients with WAS have significantly decreased platelet levels at the time of diagnosis. The thrombocytopenia is caused by decreased platelet production, and the few platelets that exist are typically quite small. The clinical effects of thrombocytopenia can vary from minor petechia or purpura to potentially life-threatening bleeding such as intracranial hemorrhage, hematemesis, or hematochezia. Platelet counts in patients with WAS are typically less than 50,000/mm3 and the mean platelet volume is also usually reduced, both features that are seen in this patient.*

Answer 162

Immediately wrap the exposed bowel in sterile saline dressing and plastic wrap ## Footnote *This should be done to minimize heat and fluid losses.*

Answer 163

Osteosarcoma ## Footnote *It typically involves the metaphyses of long bones. Physical examination typically shows a large and tender mass. Classic x-ray findings include "sunburst" periosteal reaction and Codman triangle.*

Answer 164

Fragile-X syndrome ## Footnote *These patients often have macroorchidism.*

Answer 165

Hemolytic uremic syndrome ## Footnote *This is caused by a toxin released by E. Coli. The verotoxin invades and destroys the colonic epithelial lining, and produces a bloody diarrhea. Subsequent activation of the coagulation system and red cell hemolysis results in jaundice.*

Answer 166

Herpangina ## Footnote *Sometimes the lesions appear on the palms and soles, in which case the infection is called hand-foot-mouth disease.*

Answer 167

1. Sensorineural deafness 2. Cardiac defects (I.E. patent ductus arteriosus) 3. Cataracts ## Footnote *Rubella infection in adults can be asymptomatic in 25-50% of patients or characterized by mild symptoms (I.E. low-grade fever, maculopapular rash). However, infection during pregnancy is dangerous due to high risk for transmission of the rubella virus from the mother's blood stream to the placenta and into fetal circulation. First-trimester infections are the most devastating, with potential outcomes such as spontaneous abortion and congenital rubella syndrome. Rubella immunization is contraindicated during pregnancy due to a theoretical risk for the live vaccine to cause fetal infection.*

Answer 168

Generalized seizures involve both hemispheres of the brain ## Footnote *Generalized seizures can have loss of consciousness, bilateral motor findings, and they can be convulsive or non-convulsive (absence seizures). Partial seizures can be further classified as simple partial, complex partial, and partial with secondary generalization, but all partial seizures arise from a discrete focus in the brain.*

Answer 169

Renal scarring ## Footnote *Renal scarring secondary to reflux is a major cause of end-stage renal disease in children. Because the growing kidney is very prone to scarring, it is crucial that the diagnosis of reflux not be missed in young children.*

Answer 170

Medulloblastoma ## Footnote *Approximately 90% of cases arise from the vermis.*

Answer 171

Anti-Smith antibody test or anti-double stranded DNA antibody test

Answer 172

Acyclovir ## Footnote *This is a form of primary herpes simplex virus infection associated with atopic dermatitis. Numerous vesicles over the area of atopic dermatitis are typical. The infection can be life-threatening in infants and requires prompt treatment with acyclovir.*

Answer 173

Rigid bronchoscopy ## Footnote *This presents with sudden-onset stridor, wheeze, coughing, or dyspnea.*

Answer 174

Oral erythromycin ## Footnote *Gonococcal conjunctivitis is treated with intravenous or intramuscular ceftriaxone or cefotaxime. Chemical conjunctivitis is treative with supportive measures.*

Answer 175

Focal segmental glomerulosclerosis ## Footnote *This is the most common cause of nephrotic syndrome in adults.*

Answer 176

Enterobius vermicularis ## Footnote *This is the most common helminthic infection in the United States. It is most commonly seen in children aged 5-10. The adult parasite thrives in the human intestine, primarily in the cecum and appendix. At night, females migrate out through the rectum onto the perianal skin to deposit eggs, thereby resulting in the most common characteristic symptom, nocturnal perianal pruritus. Diagnosis is made by the "scotch tape test," which demonstrates the presence of Enterobius eggs. Albendazole or mebendazole are the first-line treatments.*

Answer 177

Phenytoin and Carbamazepine ## Footnote *Both drugs work by blocking the voltage-dependent sodium channels on the neuron's membrane. Phenytoin is also a second-line drug for the treatment of myoclonic and tonic-clonic seizures.*

Answer 178

Audiology evaluation

Answer 179

Laryngomalacia ## Footnote *This is most noticeable at age 4-8 months and is caused by increased laxity of the supraglottic structures that results in collapse during the inspiratory phase. It typically presents with stridor that is loudest in the supine position and improves when the infant is held upright or prone.*

Answer 180

Mumps ## Footnote *Treatment for mumps is supportive, with application of cold compresses to the parotid area or testes. Other common complications of mumps are aseptic meningitis and encephalitis.*

Answer 181

Doxycycline for 5-7 days ## Footnote *This presents as a rash on the palms and soles, headache, and gastrointestinal symptoms.*

Answer 182

In congenital cytomegalovirus infection, the deafness is typically unilateral, blindness is usually due to chorioretinitis, and the heart is unaffected

Answer 183

Kartegener's syndrome (Primary ciliary dyskinesia) ## Footnote *This syndrome is an autosomal recessive disorder due to dysmotile cilia. The aberrant production or attachment of dynein arms can frequently be verified on electron microscopy, and results in impaired cilial function, poor clearance of secretions, and consequent chronic secondary infections.*

Answer 184

Atopic dermatitis in infancy ## Footnote *Atopic dermatitis is the result of decreased skin barrier function due to improper synthesis of components of the epidermal cornified cell envelope. This allows allergens ready access to the deeper levels of the epidermis where they may generate the immune response characteristic of atopic dermatitis. Treatment is with improvement of skin barrier function through the use of mild cleansers and thick, bland emolients in addition to mild topical anti-inflammatory ointments.*

Answer 185

Galactosemia

Answer 186

An ASD is associated with a fixed split S2 ## Footnote *Both can have systolic ejection murmurs (Left upper sternal border for ASD and left lower sternal border for VSD) and diastolic murmurs.*

Answer 187

Erb-Duchenne palsy ## Footnote *This presents as "waiter's tip" with an extended elbow, pronated forearm, and flexed wrist & fingers.*

Answer 188

Biconvex mass ## Footnote *Epidural hematomas are often associated with a lucid interval followed by rapid neurological deterioration. They are caused by injury to meningeal blood vessels, and do not usually cross suture lines because of the better dural attachment at the sutures.*

Answer 189

Diamond-Blackfan anemia (DBA) ## Footnote *This is a congenital pure red cell aplasia. White blood cell and platelet counts are normal*

Answer 190

Acute myeloid leukemia (AML)

Answer 191

Thyroid dysgenesis ## Footnote *Thyroid dysgenesis (I.E. aplasia, hypoplasia, or an ectopic gland) accounts for 85% of cases in the United States.*

Answer 192

Type I hypersensitivity reaction ## Footnote *This is IgE-mediated hypersensitivity. Patients with severe allergies should carry a self-injectable epinephrine pen at all times. In addition, patients should be referred to an allergist for venom immunotherapy which can reduce repeat bee sting anaphylaxis risk from 30% to*

Answer 193

Neurofibromatosis 1 ## Footnote *Patients may later develop fibromas, neurofibromas or different tumors.*

Answer 194

Sturge-Weber Syndrome ## Footnote *This is a neurocutaneous syndrome that can include focal or generalized seizures, mental retardation, and a port wine stain or nevus flammeus along the territory of the trigeminal nerve, which represents a congenital unilateral cavernous hemangioma. Other pertinent findings are hemianopia, hemiparesis, hemisensory disturbance, and ipsilateral glaucoma. Skull x-rays taken after the age of 2 years reveal gyriform intacranial calcifications that resemble a tramline. Treatment is aimed at controlling the seizures and reducing intraocular pressure. Argon laser therapy is successful in removing skin lesions.*

Answer 195

Factors II, VII, IX, and X as well as protein S and Protein C ## Footnote *Vitamin K is an important cofactor for the liver enzyme gamma-glutamyl carboxylase which adds carboxyl groups to the glutamate residues of several coagulation factors. These extra carboxyl groups increase the affinity of these proteins for the phospholipid on the surface of the platelets.*

Answer 196

Albendazole or mebendazole ## Footnote *Pyrantel pamoate is a 2nd line treatments as it is associated with more side effects and less efficacy than albendazole or mebendazole.*

Answer 197

DiGeorge syndrome

Answer 198

Emergent craniotomy

Answer 199

Human immunodeficiency Virus/Acquired Immunodeficiency Syndrome (HIV/AIDS)

Answer 200

Prematurity ## Footnote *It is also common in low birth weight infants.*

Answer 201

Typical absence seizure ## Footnote *Electroencephalogram (EEG) reveals a generalized 3Hz spike-and-wave pattern on a normal background. An atypical absence seizure lasts longer and shows slow spike-and-wave activity with a frequency less than 2.5Hz.*

Answer 202

Beta-blockers (I.E. propranolol) ## Footnote *If the patient is asymptomatic or does not have a clearly documented syncope, beta blocker alone is sufficient. If the patients is symptomatic or has a documented episode of syncope, the treatment will be beta-blocker plus a Dual-chamber (DDD) pacemaker.*

Answer 203

Pericardial effusion ## Footnote *Definitive treatment is achieved by pericardiocentesis or pericardiectomy*

Answer 204

Ultrasound ## Footnote *A positive "target sign" should prompt reduction with air or water-soluble contrast enema.*

Answer 205

Breast-milk jaundice ## Footnote *The unconjugated bilirubin levels may rise as high as 10-30 mg/dL. Levels drop rapidly as soon as breastfeeding is stopped., and the infant is given milk formula for 1-2 days. After 2-3 days the breastfeeding can be resumed, and usually there is no return of the hyperbilirubinemia. Although it is a benign condition in some instances, phototherapy may be indicated.*

Answer 206

Conjugated bilirubin \>2 mg/dL or \>20% of total bilirubin

Answer 207

Henoch-Schonlein purpura (HSP) ## Footnote *This is an immune-mediated vasculitis that is most common in children age*

Answer 208

Erythema toxicum neonatorum ## Footnote *"toxicum" is a misnomer as the rash is benign and evanescent. It is common in full-term neonates. The rash can change appearance and can occur on any part of the body (sparing the palms and soles) in the first 2 weeks of life. The etiology is unkown. Parents should be reassured that treatment is unnecessary as the rash resolves spontaneously without sequelae.*

Answer 209

21-hydroxylase deficiency *This is the most common cause (90% of cases) of congenital adrenal hyperplasia.* *21-hydroxylase deficiency prevents progesterone and 17-hydroxyprogesterone from being converted into aldosterone and cortisol, respectively. This leads to a mineralocorticoid deficit (hypotension, hyponatremia, hyperkalemia), while the resulting buildup of 17-hydroxyprogesterone is instead shunted toward adrenal androgen synthesis (virilization of females).*

Answer 210

Adenosine deaminase deficiency ## Footnote *This is an autosomal recessive form of severe combined immunodeficiency that leads to deficient formation of mature B and T lymphocytes due to toxic accumulation of adenosine. Most patients present with life-threatening infections, failure to thrive, and persistent diarrhea. Laboratory studies show severe lymphopenia.*

Answer 211

Reassurance ## Footnote *Simple febrile seizures do not require any workup. Patients can be discharged home from the emergency department with reassurance about a good prognosis.*

Answer 212

Around 1 year of age ## Footnote *Live attenuated vaccines can be safely administered to immunocompetent infants regardless of gestational age. All vaccines should be administered according to chronological rather than gestational age in preterm infants.*

Answer 213

Fibrosarcoma

Answer 214

5p deletion ## Footnote *It presents as microcephaly, hypotonia, short stature, and a cat-like cry.*

Answer 215

Racemic epinephrine

Answer 216

Bruton's agammaglobulinemia

Answer 217

Kawasaki Disease

Answer 218

Amoxicillin/Clavulanate ## Footnote *Cat bites are concerning because of risk of infection with pasteurella multocida. This infection develops quickly and is associated with conderable pain, erythema, and swelling. Localized cellulitis can develop subacutely, and in some cases, systemic effects (fever, lymphadenopathy) may arise. Prophylactic treatment is thus recommended for such cases. For treatment of minor cat bite wounds, amoxicillin/clavulanate for 5 days is recommended.*

Answer 219

Muscle biopsy ## Footnote *This can confirm the diagnosis in most cases. The gold standard is genetic studies, which is required in atypical cases.*

Answer 220

Fanconi anemia ## Footnote *This is an autosomal recessive or X-linked disorder associated with clinical manifestations of aplastic anemia and progressive bone marrow failure, short stature, microcephaly, abnormal thumbs, hypogonadism, hypopigmented/hyperpigmented areas, cafe au lait spots, and large freckles, strabismus, low-set ears, and middle ear abnormalities (e.g. hemorrhage, incomplete development, chronic infections, deafness)*

Answer 221

Autosomal recessive ## Footnote *It results from a deficiency in cystathionine synthase.*

Answer 222

Wilms tumor ## Footnote *It should be suspected in a toddler with a firm, smooth, unilateral abdominal mass and hematuria.*

Answer 223

C5 and C6 ## Footnote *This the most common type of brachial plexus injury, and is described as the "waiter's tip" posture. The affected arm of a neonate may have decreased or absent moro reflexes, but grasp reflex should remain intact.*

Answer 224

Osteosarcoma ## Footnote *Boys between ages 13 and 16 years of age are at higher risk. In children, the tumor occurs most frequently at the metaphyses of long bones such as the distal femur, proximal tibia, and proximal humerus.*

Answer 225

Membranous glomerulonephritis ## Footnote *This association is particularly seen in those patients positive for HBeAg, which may be secondary to the deposition of HBeAg itself or its corresponding antibody in the glomeruli. Hepatitis B-associated membranous glomerulonephritis is more common in children than adults.*

Answer 226

Spondylolisthesis ## Footnote *It usually occurs with a forward slip of L5 over S1. In the typical clinical scenario, back pain, neurologic dysfunction (I.E. urinary incontinence), and a palpable "step-off" at the lumbosacral area are present if the disease is severe.*

Answer 227

Myotonic muscular dystrophy (Steinert disease) ## Footnote *Additional abnormalities of the endocrine, immunologic, and nervous systems can occur. Endocrine manifestations include diabetes mellitus, testicular atrophy, frontal baldness, and hypothyroidism.*

Answer 228

1. Encapsulated bacterial infections (Strep pneumo, H. Influenza, and N. Meningitidis) 2. Autoimmune conditions

Answer 229

Primary ciliary dyskinesia (Kartagener's syndrome)

Answer 230

Lateral epicondylitis (Tennis elbow) ## Footnote *Tenderness is elicited over the lateral epicondyle, and pain is felt with passive wrist flexion and resisted wrist extension.*

Answer 231

Cystic Hygroma (lymphangioma)

Answer 232

Hematopoietic stem cell transplantation

Answer 233

Hirschprung disease ## Footnote *The presentation is consistent with complete bowel obstruction (e.g. poor feeding, abdominal distension, absent air in the rectum)*

Answer 234

Hyper-IgM syndrome

Answer 235

Pseudomonas aeruginosa ## Footnote *Amikacin, ceftazidime, and ciprofloxacin are all appropriate for empiric treatment of pseudomonas.*

Answer 236

Patients with Asperger syndrome are usually more socially aware and communicative and have normal language development ## Footnote *Both may have stereotypical movements and self-injurious behavior.*

Answer 237

Juvenile dermatomyositis ## Footnote *This is a rare autoimmune myositis. The onset of the juvenile form is generally between 5 and 10 years of age.*

Answer 238

Autosomal dominant ## Footnote *It presents with tall stature, arachnodactyly, and multiple contractures involving large joints. Marfan's patients do not have joint contractures. Furthermore, ocular and cardiovascular symptoms are not present in CCA.*

Answer 239

Staphylococcus aureus ## Footnote *Intravenous vancomycin is the drug of choice for severe pneumonia in this setting.*

Answer 240

Focal Segmental Glomerulosclerosis ## Footnote *This is characterized by localized regions of mesangial sclerosis and basement membrane collapse. As suggested by the name, not all glomeruli are affected in this disease. Minimal change disease is the most common form of idiopathic nephrotic syndrome in children.*

Answer 241

Septic arthritis ## Footnote *The appropriate initial management consists of arthrocentesis, blood and synovial fluid cultures, and empiric antibiotic therapy.*

Answer 242

High doses of vitamin B₆ (pyridoxine) ## Footnote *Restriction of methionine along with supplementation of cysteine is used for patients not responsive to vitamin B₆ therapy.*

Answer 243

Functional asplenia ## Footnote *These blue inclusions are nuclear remnants called Howell-Jolly bodies that are normally removed by the spleen. Their presence strongly suggests physical or functional hyposplenism.*

Answer 244

Intravenous or intramuscular ceftriaxone or cefotaxime ## Footnote *Neonatal chlamydial conjunctivitis is treated with oral erythromycin.*

Answer 245

Myotonic muscular dystrophy (Steinert disease) Autosomal dominant *The pathology is distinct in that all types of muscles (smooth, striated, and cardiac) are involved. Myotonia is defined as delayed muscle relaxation and the classic example is the inability to release the hand after a handshake. It may present as progressive weakness and delayed muscle relaxation in a patient with temporal wasting, thin cheeks, emaciated extremities, atrophy of the thenar/hypothenar eminences, an upper lip in the shape of an inverted V, and testicular atrophy.*

Answer 246

Angiofibroma ## Footnote *This is a benign growth, but is capable of eroding and locally invading. In some cases, no treatment is necessary. Treatment is required if the angiofibroma is enlarging, obstructing the airway, or causing chronic nosebleeds. recurrence of the tumor after surgical resection is common.*

Answer 247

Age 2-5 years ## Footnote *It affects a single kidney (less than 10% of patients have bilateral renal involvement). The most common presentation is an asymptomatic abdominal mass that is found incidentally by a caretaker or physician. Some patients have abdominal pain, hypertension, hematuria, and fever.*

Answer 248

Macrolide antibiotics ## Footnote *This includes azithromycin, erythromycin, and clarithromycin.*

Answer 249

Paroxysmal nocturnal hemoglobinuria (PNH) ## Footnote *This disorder is characterized by an absence of glycosylphosphatidylinositol (GPI) on the surface of red blood cells. GPI normally anchors cell-protective proteins to the surface of red blood cells and without it, red cells are particularly vulnerable to lysis.*

Answer 250

Reye syndrome

Answer 251

With signs of respiratory and liver failure

Answer 252

Hemolytic uremic syndrome ## Footnote *Investigations include Complete blood count (CBC), platelet count, blood smear, urinalysis, BUN and creatinine. Treatment is generally supportive, and involves plasmapheresis, dialysis if necessary, and steroids. Antibiotics are not indicated.*

Answer 253

Pinealoma ## Footnote *This develops in the dorsal aspect of the midbrain.*

Answer 254

Craniopharyngioma ## Footnote *A young boy with symptoms of increased intracranial pressure, bitemporal hemianopsia, and a calcified lesion above the sella has a craniopharyngioma until proven otherwise. Craniopharyngiomas are more common in boys, whereas pituitary adenomas are more common in women.*

Answer 255

IgE-mediated (type I) hypersensitivity ## Footnote *Atopy, urticaria, and anaphylaxis are examples of this form of hypersensitivity.*

Answer 256

Partial seizure with secondary generalization

Answer 257

Bruton's (X-linked) agammaglobulinemia ## Footnote *The diagnosis is confirmed by decreased serum concentrations of IgG, IgA, IgM, and IgE, along with absent or markedly decreased B cells on smear.*

Answer 258

Occlusion of the normal eye

Answer 259

Guillain Barre Syndrome

Answer 260

Bulging of the tympanic membrane on pneumatic insufflation

Answer 261

3rd and 4th pharyngeal pouches ## Footnote *Affected patients develop hypocalcemia from parathyroid hypoplasia and defective T-cell function from thymic hypoplasia. Fungal and viral infections are common.*

Answer 262

Otosclerosis

Answer 263

Autism ## Footnote *This is also called pervasive developmental disorder. Lack of peer relationships and nonverbal social cues, delayed social smile, repetitive activities and preference for sameness are also very commonly seen in these kids.*

Answer 264

Duchenne muscular dystrophy ## Footnote *Serum CK and aldolase levels will be elevated even before the appearance of any clinical signs of disease. Genetic testing or muscle biopsy can confirm the diagnosis.*

Answer 265

Wiskott-Aldrich syndrome (WAS) ## Footnote *The classic presentation involves a young boy with eczema, thrombocytopenia, and recurrent infections with encapsulated germs.*

Answer 266

Prematurity (\< 32 weeks gestation) ## Footnote *Cerebral Palsy is a group of syndromes characterized by nonprogressive motor dysfunction. Affected patients have uncoordinated and limited voluntary movements.*

Answer 267

11Beta-hydroxylase deficiency *Increased levels of 11-deoxycorticosterone and 11-deoxycortisol will be present. This condition accounts for* *).*

Answer 268

Glomus tumor

Answer 269

Congenital Cytomegalovirus ## Footnote *This is the most common congenital viral infection.*

Answer 270

Deficiency of 21-hydroxylase ## Footnote *It typically presents with virilization of female infants, salt-wasting, and increased 17-hydroxyprogesterone levels. 21-hydroxylase deficiency prevents progesterone and 17-hydroxyprogesterone from being converted into aldosterone and cortisol, respectively. This leads to a mineralocorticoid deficit (hypotension, hyponatremia, hyperkalemia), while the resulting buildup of 17-hydroxyprogesterone is instead shunted toward adrenal androgen synthesis (virilization of females).*

Answer 271

17alpha-hydroxylase deficiency ## Footnote *Male patients usually appear phenotypically female and are raised as girls. Patients typically present around puberty with hypertension, hypokalemia, and hypogonadism.*

Answer 272

Hemolytic Uremic Syndrome (HUS) ## Footnote *This is usually preceded by an acute diarrheal illness due to the pathogens Escherichia coli serotype 0157:H7, Shigella, Salmonella, Yersinia, and Campylobacter species.*

Answer 273

Influenza virus or varicella virus ## Footnote *Reye syndrome is seen exclusively in children younger than 15 years of age. Treatment with salicylates significantly increases the likelihood of developing Reye syndrome.*

Answer 274

Infectious mononucleosis caused by Epstein-Barr virus (EBV) ## Footnote *The rash is not considered to be a true drug allergy, and patients can receive the same antibiotic in the future.*

Answer 275

Uremia ## Footnote *These can be seen as an artifact of preparation.*

Answer 276

Bacterial sinusitis ## Footnote *This is the most common predisposing factor for orbital cellulitis due to the prevalence of this disease as well as the proximity of the sinuses to the orbital space and the valveless orbital venous system. Symptoms of orbital cellulitis include proptosis, ophthalmoplegia, and diplopia.*

Answer 277

Topical mupirocin or oral erythromycin ## Footnote *Penicillin is no longer used for the treatment of impetigo, as Staph aureus is almost universally resistant (\>99%) to penicillin. Oral cephalexin, dicloxacillin, and ampicillin are alternative drugs in severe cases.*

Answer 278

Intravenous ceftriaxone + Vancomycin ## Footnote *The most common bacterial causes in children \> 1 month old are streptococcus pneumoniae and Neisseria meningitidis. Vancomycin is used because of resistant strains of sterptococcus pneumoniae.*

Answer 279

Continuous positive air pressure ventilation ## Footnote *Chest x-ray would typically show fine reticular granularity of the lungs.*

Answer 280

Passive immunization at birth with hepatitis B immune globulin (HBIG) followed by active immunization with recombinant HBV vaccine

Answer 281

Porphyrias ## Footnote *This is a group of inherited disorders associated with neurological signs, photosensitivity and hyperpigmentation.*

Answer 282

Neurofibromatosis 2

Answer 283

Non-Rapid Eye Movement (non-REM) sleep ## Footnote *They are characterized by fear, crying or screaming, decreased level of consciousness, and amnesia of the event. In contrast, nightmares occur during REM sleep.*

Answer 284

Vascular rings ## Footnote *These result from abnormal development of the aortic arch and can encircle both the trachea and esophagus. Infants with vascular rings typically present before age 1 year with respiratory or esophageal symptoms. Diagnosis can be confirmed with barium contrast esophagogram, bronchoscopy, CT, or MRI. The only definitive treatment is surgical intervention.*

Answer 285

Measles ## Footnote *This presents with a prodome of cough, coryza, and conjunctivitis. The classic reddish-brown rash appear on days 3-5 on the face and spreads downward to the rest of the body. The rash persists for a week, coalesces, and darkens to a reddish-brown color. Measles (Rubeola) is an extremely contagious disease that is spread by infected droplets from respiratory secretions. The virus can remain airborne for several hours, and unvaccinated patients can contract it by entering a room that an infected person has exited.*

Answer 286

1. Respiratory distress 2. Poor feeding 3. Neurologic manifestations (lethargy, irritability, jitteriness, and seizures) ## Footnote *Polycythemia is defined as a central venous hematocrit level \>65%.*

Answer 287

Pavlik hip harness

Answer 288

Retinoblastoma ## Footnote *Leukocoria = white reflex on ophthalmoscopic exam*

Answer 289

1000 words ## Footnote *75% of the child's speech can be understood by a stranger.*

Answer 290

21-hydroxylase deficiency *Increased levels of 17-hydroxyprogesterone will also be present.*

Answer 291

Neurofibromatosis

Answer 292

Ewing's Sarcoma ## Footnote *Patients may initially be diagnosed with osteomyelitis, based on the misleading presentation of intermittent fevers, leukocytosis, anemia, and an increased ESR. Nevertheless, Ewing's sarcoma can be distinctly characterized radiologically with its lamellated appearance or "onion skin" periosteal reaction. The lesion is usually lytic, central, and accompanied by endosteal scalloping. The "onion-skin" appearance is often followed with a "moth-eaten" or mottled appearance and extension into soft tissue. The treatment includes surgery, radiation, and multi-drug chemotherapy.*

Answer 293

Amoxicillin-clavulanic acid ## Footnote *This is the treatment of choice due to increasing beta-lactamase resistance. Streptococcus pneumoniae and nontypeable haemophilus influenzae are the most common causes of acute bacterial rhinosinusitis.*

Answer 294

Regular intravenous infusions of immune globin ## Footnote *This disease is due to a defect in Bruton's tyrosine kinase, a signaling molecule expressed in B cells at all stages of development.*

Answer 295

Red cell distribution width (RDW) Iron deficiency anemia is characterized by an elevated RDW, which is typically \>20%. Normal values of 12-14% are seen in thalassemia.

Answer 296

Varicella zoster immune globulin ## Footnote *All immunocompetent patients who are asymptomatic and nonimmune should recieve the varicella vaccine for post-exposure prophylaxis.*

Answer 297

Inattentive or hyperactive-impulsive symptoms that cause impairment in two different settings for more than 6 months in a child less than 7 years old

Answer 298

Common variable immunodeficiency (CVID) ## Footnote *The serum concentrations of IgG, IgA, IgM, and IgE may also be decreased, but there is no absence or decrease in the number of circulating B cells.*

Answer 299

Incision & drainage and clindamycin ## Footnote *Unilateral cervical adenitis in children is typically caused by streptococcal or staphylococcal infection.*

Answer 300

Minimal Change Disease

Answer 301

Acute lymphoblastic leukemia (ALL) ## Footnote *The presence of more than 25% lymphoblasts in the bone marrow is diagnostic. Lymphoblasts lack peroxidase positive granules but often contain cytoplasmic aggregates of periodic acid Schiff (PAS) positive material. Immunostaining for terminal deoxynucleotidyltransferase (TdT) is positive in more than 95% of patients. TdT is only expressed by pre-B and pre-T lymphoblasts.*

Answer 302

Meniere's disease

Answer 303

Pyridoxine deficiency ## Footnote *Pyridoxine = vitamin B₆*

Answer 304

Homocystinuria ## Footnote *This is an autosomal recessive disease caused by cystathionine synthase deficiency. Treatment mainly involves administration of high doses of vitamin B6.*

Answer 305

Patellofemoral stress syndrome (patellofemoral pain syndrome) ## Footnote *This is an overuse injury commonly seen in runners.*

Answer 306

Fractured humerus *Upper-arm crepitus/bony irregularity* *may also be present. The decreased moro reflex is due to pain on the affected side.*

Answer 307

Rathke's pouch ## Footnote *It is not a true pituitary tumor, and is characterized by nests of squamous cells in a loose stroma, resembling the appearance of embryonic tooth bud enamel.*

Answer 308

McCune-Albright syndrome ## Footnote *This is a rare condition characterized by precocious puberty, cafe-au-lait spots and multiple bone defects (polyostotic fibrous dysplasia). It is responsible for 5% of the cases of female precocious puberty, and may be associated with other endocrine disorders, such as hyperthyroidism, prolactin or growth hormone secreting pituitary adenomas, and adrenal hypercortisolism. McCune-Albright syndrome is sporadic and has been recently attributed to a defect in the G-protein cAMP-kinase function in the affected tissue, thereby resulting in autonomous activity of that tissue.*

Pediatrics: UWorld Flashcards

(344 cards)