Asymptomatic –> GI symptoms and resolution –> hepatic necrosis (jaundice, hypoglycemia, lactic acidosis) –> resolution, liver failure, death
Acetaminophen toxicity
Patient with fever, ear pain, decreased hearing
Acute otitis media
Microcytic anemia, normal Hct/RDW/RBC count, target cells on smear, normal iron, normal Hgb electrophoresis
alpha-thalassemia minor
Persistent nasal drainage, congestion and cough of >10 days
Bacterial sinusitis
Microcytic anemia, normal Hct/RDW/RBC count, target cells on smear, normal iron, elevated Hgb A2 on electrophoresis
beta-thalassemia minor
Bowed legs, beaking of proximal tibial epiphysis
Blount disease
Constipation, poor feeding, progressive hypotonia, weakness, loss of DTRs, and respiratory difficulties
Botulism in the GI tract (live bug)
Fever, severe headaches at night or in the morning, focal neurologic changes in the setting of otitis media, sinusitis, dental infection or bacteremia
Brain abscess
Male patient asymp. until 6 mos., then recurrent pyogenic infections, decreased all antibodies and decreased B cells
Burtons (X-linked) agammaglobulinemia
Cherry red skin and retinal hemorrhages, tachycardia, tachypnea
Carbon monoxide poisoning
Distant heart sounds, distended jugular veins, hypotension
Cardiac tamponade
Movement and posture disorders, epilepsy, abnormalities of vision, speech, intellect
Cerebral palsy
Recurrent infections early in life, especially with Staph aureus, neutrophils filled with bacteria
Chronic granulomatous disease
Asymp. until 6 mos., then recurrent pyogenic infections, decreased all antibodies and normal B cells
Common variable immunodeficiency
Female neonate with virilization of genitalia, salt-wasting (sx of severe dehydration) and increased 17-hydroxyprogesterone
Congenital Adrenal Hyperplasia (CAH)
Neonatal respiratory distress, pulmonary hypoplasia, left-sided, polyhydramnios, barrel-shaped chest, absent breath sounds on one side
Congenital diaphragmatic hernia (CDH)
Newbornw with chorioretinitis, hydrocephalus, intracranial calcifications
Congenital toxoplasmosis
Boy w/ sx of increased ICP, bitemporal hemianopsia, calcified lesion above sella turcica (sx of hypothyroidism and GH deficiency also present)
Craniopharyngioma
Stridor with barky cough, fever, rhinorrhea, congestion
Croup (laryngotracheobronchitis)
Rising blood pressure, irregular respiration, falling heart rate
Cushing’s triad = increased ICP
Cardiac defects, abnormal faces, thymic hypoplasia (T-cell dysfunction), cleft palate, hypocalcemia
DiGeorge syndrome (CATCH-22)
Neonate with atlantoaxial subluxation, AV canal defect (endocardial cushions), hearing loss, hypothyroidism, duodenal atresia, pulmonary HTN
Down Syndrome
Bradycardia, fixed and dilated ipsilateral pupil, contralateral hemiparesis
Early signs of brain herniation
Tired patient with pharyngitis, malaise, fever, lymphadenopathy, tonsillar exudates (polymorphous rash after amoxicillin)
EBV Infectious Mono
High fever, rapid airway obstruction, muffled speech, thumbprint sign on radiology
Epiglottitis
Long face, large ears, large testes, behavioral abnormalities, CGG nucleotide repeats in FMR1 gene
Fragile X syndrome
Neurologic (ataxia, dysarthria), skeletal (scoliosis, foot deformities) and cardiac (hypertrophic cardiomyopathy)
Friedrich ataxia
BIlateral leg pain at night, no limitation of activity, normal physical exam
Growing pains
Viral infection followed by ascending motor polyneuropathy within 7 days, high protein in CSF
Guillain-Barre syndrome
Bloody diarrhea followed by hemolytic anemia, thrombocytopenia and acute renal failure
Hemolytic-uremic syndrome (HUS)
Hemarthroses, soft tissue hematoma, prolonged aPTT, low factor VIII, normal platelets
Hemophilia
Easy bruising, excessive bleeding, recurrent joint swelling (hemarthroses), family history
Hemophilia A or B
Boy in winter with palpable purpura, arthritis, abdominal pain (GI bleeding/intussusception), renal disease, scrotal pain
Henoch-Schonlein Purpura
Hematuria (renal disease), colicky abdominal pain, purpuric rash on lower extremities, arthritis, no TCP
Henoch-Schonlein Purpura (HSP)
Pain and burning on dermatomal distribution followed by vesicular rash
Herpes zoster
Exopthalmos, tachycardia, warm/flushed skin, nervousness/fine tremors, pubertal problems
Hyperthyroidism
History of prolonged jaundice, poor feeding, lethargy, constipation, myxedema, short stature
Hypothyroidism
Cough, RDS, localized CXR findings, recurrency, hemoptysis, digital clubbing, microcytic/hypochromic anemia, low serum Fe, dx w/ BAL
Idiopathic pulmonary hemosiderosis
Mild immunodeficiency (recurrent sinopulmonary and GI infections), anaphylactic transfusion rxns
IgA deficiency (also consider B-cell defect)
Honey-colored crusts on the face, flaccid/easily-ruptured blisters, localized infection
Impetigo (Staph or GABHS infection)
Fetal macrosomia, RDS, polycythemia, hypocalcemia, hypomagnesemia (loss of muscle tone), hyperbili, hypoglycemia
Infant of diabetic mother
Fever, odynophagia/dysphagia, muffled voice, drooling, neck stiffness, inability to open mouth –> inability to extend neck, widened prevertebral space
Infection of larynx/pharynx –> Retropharyngeal abscess
Colicky abdominal pain, red currant stool, sausage-shaped mass, target sign on ultrasound
Intussusception
Ab pain, GI bleeding/shock, fever, leukocytosis –> resolution –> met. acid., circ. collapse, organ failure
Iron toxicity
Microcytic anemia, excessive cow’s milk consumption (>24 oz./d), increased RDW
Iron-deficiency anemia
Spindle-swelling of fingers, polyarthritis/pauciarticular, systemic (severe sx, rheumatoid rash, spiking fevers)
Juvenile Idiopathic Arthritis (JIA)
Triad of situs inversus, chronic sinusitis and otitis media, bronchiectasis
Kartagener’s syndrome (primary ciliary dyskinesia)
Stridor, worsens in supine position and improves in prone position
Laryngomalacia
2-12 years old, painless limp
Legg-Calve-Perthes disease (avascular necrosis of femoral head)
High fever, rigidity of muscles, dark colored urine, metabolic and respiratory acidosis, arrhythmia, cyanosis following general anesthesia
Malignant Hyperthermia
Bilious vomiting, crampy abdominal pain, abdominal distention, and the passage of blood and mucus in their stool
Malrotation and volvulus
Cafe au lait spots in unilateral distribution, polyostotic fibrous dysplasia, precocious puberty/hormone excess
McCune-Albright syndrome
Asymptomatic intermittent abdominal pain, 2 years, male>female
Meckel’s diverticulum
Severe headache of gradual onset associated with nauseas, vomiting, photophobia and a visual aura
Migraines
Throbbing recurrent headache being the eyes, nonspecific associated symptoms,
Migraines
Adolescent male with fever, malaise, parotitis, orchitis
Mumps
Premature neonate with usual GI symptom, hypothermia, lethargy, air in bowel wall and portal venous air on radiology, leukocytosis and met. acid. on labs
Necrotizing enterocolitis
Child less than 16, generalized edema, heavy proteinuria
Nephrotic syndrome (most likely minimal change disease)
Cafe au lait spots, axillary freckling, hamartomas of the iris (Lisch nodule), nerve sheath tumor involving skin, bony lesions, optic glioma, family hx
Neurofibromatosis I
Patient from closed population, with vomiting as primary symptom, short duration
Norovirus
Overuse injury, repeated microfracture of tibial tubercle
Osgood-Schlatter disease
Multiple fractures, decreased muscle tone, blue sclerae, hearing loss, opalescent teeth
Osteogenesis imperfecta
Sickle cell patient, focal joint pain, motion restriction, decreased hematocrit
Osteonecrosis
Slapped-cheek rash that follows a viral prodrome, aplastic crises in sickle cell patients
Parvovirus B19
Diarrhea, dermatitis, dementia and possibly death
Pellagra (Niacin/B3 deficiency)
Posterior fossa malformation, hemangioma on face, arterial abnormalities, coarctation of aorta, eye abnormalities
PHACE syndrome
Endocrine syndrome, intracranial HTN, Parinaud’s sign (paralysis of vertical gaze), Collier’s sign (eyelid retraction).
Pinealoma
Anal/vaginal itching, insomnia/irritability/restlesness, abdominal pain/nausea
Pinworm (enterobiasis)
Girl w/ sx of increased ICP, bitemporal hemianopsia, prolactinoma
Pituitary adenoma
URI prodrome, herald lesion, christmas tree distribution
Pityriasis rosea
Proteinuria, hematuria, hypertension after prodromal illness
Post-streptococcal acute glomerulonephritis
Oligohydramnios, bladder distension, bilateral hydroureters, bilateral hydronephrosis
Posterior urethral valves (PUV)
Short fourth and fifth metacarpals, rounded facies, low serum Ca, high PO4, normal Vit. D, high PTH, signs of rickets
Pseudohypoparathyroidism (Albright’s dystrophy)
Nausea, vomiting, headache, excitability, delirium, combativeness, hypoglycemia, liver failure, all preceded by influenza or varicella
Reye Syndrome (fatty liver with encephalopathy)
Polyarthritis, chorea, carditis, subcutaneous nodules, erythema marginatum (fever, arthralgia)
Rheumatic fever post-GABHS infection
Rapid onset fever, headache, muscle pain, rash (outward –> inward spread)
Rocky Mountain spotted fever
Infant with HIGH fever/irritability followed by erythematous, blanching maculopapular rash
Roseola (6th disease)
1-3 day incubation, vomiting/diarrhea/dehydration, lasts 4-7 days
Rotavirus
Mild sore throat, low-grade fever, diffuse maculopapular rash followed by swelling of wrists and red eyes, lymphadenopathy
Rubella
Fever, diaphoresis, hyperventilation, respiratory alkalosis with high anion gap metabolic acidosis
Salicylate toxicity
Fever/pharyngitis, strawberry tongue, diffuse, erythematous rash with sandpaper quality, follows Pastia’s Lines
Scarlet fever (post-streptococcal rash)
Involuntary, uncoordinated jerks of the arms and legs, hypotonia, emotional lability, milkmaid grip (sometimes after infections with GABHS)
Syndenham chorea
Distended neck veins, decreased breath sounds, displaced trachea, hyperresonance to percussion
Tension pneumothorax
Fatigue, peripheral and perioral cyanosis, systolic murmur along left sternal border, increase in loudness when squatting
Tetralogy of Fallot
Erythematous ring of central clearing on extremities, hot/humid environment
Tinea corporis
Motor and vocal tics, OCD behavior, hyperactivity/ADHD
Tourette syndrome
Cyanotic congenital heart disease, left-axis deviation, LVH
Tricuspid atresia
Cardiac tumors, infantile spasms, hypopigmented lesions, sebaceous adenomas, raised lesion on sacrum
Tuberous sclerosis
Female with abnormal facies, short stature, short webbed neck, wide-spaced nipples, coarctation of the aorta
Turner Syndrome
Fever/malaise prodrome, itchy rash, dewdrops on rose petal, lesions in different stages of healing
Varicella (chicken pox)
Stridor before 1 year, improves with neck extension, associated with cardiac abnormalities
Vascular ring
A patient that presents with low-grade fever, rhinorrhea, cough and sore throat
Viral URI
Meningococcemia, purpuric lesions on flanks, vasomotor collapse
Waterhouse-Friderichsen syndrome
Boys with thrombocytopenia, eczema, increased susceptibility to infection (B-cell and T-cell dysfunction)
Wiskott-Aldrich syndrome