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100 Cards in this Set

  • Front
  • Back
CSF abnormality in Guillain Barre
High protein
Peroneal and intrinsic foot muscle atrophy, later extending to intrinsic hand muscles and proximal legs
Where are the intracranial calcifications in congenital CMV vs. toxo?
CMV: periventricular
Toxo: cortex
Alternative name, cause, and presentation of Werdnig-Hoffman disease
(Infantile progressive) spinal muscular atrophy: anterior horn disease --> hypotonia, weakness, and delayed developmental motor milestones
Migraine headache + aura that involves unilateral sensory or motor signs
Hemiplegic migraine
Migraines are also known as
Headache associated w/ menstruation
Vascular headache
What is echolalia?
Automatic repetition of vocalizations made by someone else
Common drug reaction from phenothiazines
Dystonia (neck, arm, or leg spasms)
Rx for dystonia induced by phenothiazines
What is Sydenham chorea?
Acquired chorea of childhood, seeen after group A strep infections (associated w/ rheumatic heart disease)
Other signs seen with Sydenham chorea
Hypotonia, emotionally labile, milkmaid grip, darting tongue, spooning of an extended hand (flexion at wrist and extension of fingers)
Cafe au laits, axillary freckling, Lisch nodules (hamartomas), bony lesions, optic glioma
Neurofibromatosis Type 1 (usually also have neurofibromas)
PHACE syndrome
Posterior fossa malformations
Arterial anomalies
Coarctation or other heart problems
Eye abnormalities
Most common first sign of PHACE syndrome
Unilateral facial lesion (similar to Sturge-Weber) + blindness
Large unilateral cafe au lait spots, fibrous dysplasia of bones, precocious puberty, goiter
McCune-Albright Syndrome
Cause of hyaline membrane disease in newborns
Inadequate surfactant production in premies (--> atelectasis --> perfused but non-ventilated alveoli --> hypoxemia)
Most common cause of stroke in childhood
Teenager with gait ataxia, dysarthria, absence of DTRs, nystagmus
Friedrich ataxia
Affected spinal regions and inheritance of Friedreich ataxia

Spinocerebellar tracts, posterior column, pyramidal tract
Non-neuro complications of Friedreich ataxia
HCOM, diabetes, skeletal deformities (scoliosis and hammer toes); cardiomyopathy is most common cause of death
Macrosomia, macroglossia, visceromegaly, omphalocele, hypoglycemia, hyperinsulinemia
Beckwith-Widermann syndrome
Differentiating congenital hypothyroidism from Beckwith-Wiedemann syndrome
Hypothyroid: umbilical hernia, macrocephaly

BW: omphalocele, microcephaly, pancreatic overactivitiy (hypoglycemia/ hyperinsulinemia)
4 complications of infants of diabetic mothers
Caudal regression syndrome
Duodenal atresia and small L colon
Transposition of great vessels
Anencephaly and NTDs
Findings of WAGR syndrome
Wilms tumor
Genitourinary anomaly
mental Retardation
Most common symptom with sickle cell trait
Painless hematuria
Complications of severe cough in pertussis
Recal prolapse, epistaxis, pneumothoraces
5 times when jaundice in a newborn should be investigated
- If it presents before 24hrs of life
- If > 12 (or >10-14 in premies)
- If direct bili > 2
- Rate of increase is > 5/day
- Persists after 10-14 days
Progressive pancytopenia and macrocytosis, cafe au lait spots, microcephaly, short, horshoe kidneys, absent thumbs
Fanconi's anemia
Macrocytic pure red aplasia w/ congenital anomalies (short stature, webbed neck, clef lip, shielded chest, triphalangeal thumbs
Diamond-Blackfan syndrome (congenital hypoplastic anemia) (Rx is corticosteroids)
Therapy to remove lesions in Sturge-Weber
Argon laser therapy
Underlying abnormality in HSP
Small vessel vasculitis
Tetrad of HSP
Lower extremity palpable purpura, arthritis/ athralgias, abdominal pain, renal disease
Rx for HSP
Supportive, NSAIDs if in significant pain
What type of infections are most commonly seen in DiGeorge syndrome?
Rx for Kawasaki disease
Aspirin and IVIG
Cyanotic infant with left axis deviation
Tricuspid atresia
Glomerular abnormality in HSP
Mesangial deposition of IgA
Risk factors for infant respiratory distress syndrome
Prematurity, maternal diabetes, male sex, cesarean section, perinatal asphyxia
What decreases the risk of infant RDS?
Stress in utero stimulates fetal lung maturity, e.g. prolonged ROM, IUGR, maternal HTN
Rx for Turner's Syndrome with 46X/46XY
Bilateral abdominal gonadectomy (risk of gonadoblastoma)
Congenital infections: hepatomegaly, cutaneous lesions, jaundice, anemia, rhinorrhea
Gland responsible for adrenarche (e.g. axillary hair growth)
Adrenal gland
Clinical concern with premature adrenarche and thelarche?
Limited, usually benign
Clinical concern with premature pubarche (pubic hair growth before the age of 8)
CNS disorder associated in 50%
Which is covered by a protective membrane, gastroschisis or omphalocele?
Which is associated with other congenital abnormalities gastroschisis or omphalocele?
Treatment for both gastroschisis and omphalocele?
Vaginal delivery, protective wrapping, orogastric tube, IV antibiotics, surgery
Vitamin deficiency: sore through, hyperemic and edematous oropharyngeal mucous membranes, cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, seborrheic dermatitis, photophobia
Vitamin deficiency: infantile fulminant cardiac syndrome with cardiomegaly, tachycardia, cyanosis, dyspnea, and vomiting
Infantile beriberi
Vitamin deficiency: symmetric peripheral neuropathy
Dry beriberi
Vitamin deficiency: neuropathy + cardiac involvement (cardiomegaly, cardiomyopathy, CHF, peripheral edema, tachy)
Wet beriberi
Hypoglycemic seizures, lactic acidosis, and hyperlipidemia in a 3mo w/ a doll face, thin extremities, and protuberant abdomen
Von Gierke's disease/ Type 1 glycogen storage disease
Von Gierke's disease is a deficiency of ?
Floppy baby in first few weeks of life with hepatomegaly, feeding difficulties, macroglossia, and heart failure (disease + deficiency)
Pompe's disease, acid maltase deficiency
How to distinguish type 1 glycogen storage disease from type III?
Type III has elevated liver transaminases, fasting ketosis, and normal lactate and uric acid concentrations
Presentation and major complication of branching enzyme deficiency (type IV glycogen storage disease)
Hepatosplenomegaly and FTT --> cirrhosis
Rx for clavicular fracture during delivery
Most common first symptom of autism
Lack of a social smile
Triad of McCune Albright syndrome
Precocious puberty, cafe au lait spots, and polyostotic fibrous dysplasia (--> multiple bone defects)
GI tract polyposis and mucocutaneous pigmentation
Peutz-Jeghers syndrome
Marfan's + thromboembolic events
Homocystinuria is a deficiency of
Cystathionine synthase
Lab findings in homocystinuria
Elevation of both homocysteine and methionine
Rx for homocystinuria
High doses of vita B6; if unresponsive, restriction of methionine along with supplementation of cysteine
When does Becker's muscular dystrophy present?
After 5yo (Duchenne's is before), usually around age 12
Rx for liquid alkali ingestion?
Assess airway; if patent, next step is upper GI endoscopy to assess damage
How and when does transposition usually present?
With cyanosis and tachypnea within the first few days of life
Ingestions: vomiting and agitation progressing to lethargy and restlessness, with convulsions, hyperammonemia, elevated LFTs and LDH, and hypglycemia
Reye's syndrome (salicylate ingestion)
Biopsy of liver, kidneys, or brain in Reye's syndrome reveals
Microvesicular steatosis
Rx for Reye's
Rx for scarlet fever?
Penicillin V
Rx for swallowed foreign object
If in esophagus: immediate endoscopic removal

If distal to esophagus: monitor for excretion
Lytic bone lesion + hypercalcemia
Langerhans cell histiocytosis (if solitary long bone lesion)

Primary hyperparathyroidism (usually from parathyroid adenoma) causes multiple lesions
Low temp and jaundice in a neonate
Do FIN work-up: jaundice can be present in sepsis
Rx for pertussis
What are Howell-Jolly bodies, and what do they indicate?
Nuclear remnants of RBCs that are normally removed by the spleen; indicate asplenia (e.g. in SCD)
Work-up and Rx for transient synovitis
Ibuprofen and restriction of weight-bearing
4 criteria that make septic arthritis more likely than transient synovitis and justify a work-up
- Fever
- WBC count > 12
- Refusal to bear weight
- ESR > 40
What does the rash in niacin deficiency look like, and which pts are at risk for niacin deficiency?

Pts with bowel diseases (e.g. ulcerative colitis) who have absorption problems
Vitamin deficiencies: irritability, depression, dermatitis, stomatitis, elevated homocysteine levels (--> atherosclerosis)
Vita B6 (pyridoxine) deficiency
How to distinguish myocarditis from rheumatic fever after a viral prodrome?
Myocarditis causes CHF symptoms, rheumatic fever causes more systemic symptoms
In a CF exacerbation, what bug are you making sure to cover for?
Antibiotic regimen for CF exacerbation?
IV ceftazidine (or Zosyn) + IV aminoglycoside (want double coverage)
Rx for impetigo
Topical mupirocin (or oral erhythromycin)
Two most common causative agents of impetigo
GAS and S. aureus
Impetigo is associated with this disease a few weeks afterward?
When are IV fluids indicated for rehydration after gastro?
When clinical symptoms of dehydration are present: decreased skin turgor, dry MM, tachy, decreased urine output, delayed cap refill (2-3sec)
Endocrine symptoms, paralysis of vertical gaze, eyelid retraction
Presentation and Rx for mild (Type I) cases of metatarsus adductus (congenital foot deformity)
Passive and action motion of the foot overcorrect into abduction

Presentation and Rx for moderate (Type II) cases of metatarsus adductus
Motion of the foot corrects into neutral position

Dx and Rx for erythema migrans
Lyme Disease

PO Amoxocillin (50mg/kg/day divided TID for 21 days)

Doxycycline if >9yo
Two X-linked immunodeficiencies
Bruton's and Wiskott-Aldrich
How to differentiate common variable immunodeficiency (CVID) from Bruton's agammaglobulinemia
CVID has decreased IgM, IgG, IgA, and IgE, but normal numbers of circulating B cells (whereas circulating B cells are decreased in Bruton's) and presents with less severe symptoms at a later age (15-35yo instead of 6-9mo)
Bedwetting is normal until what age?
Mental retardation, hypoplastic maxilla, long philtrum, and microcephaly
Fetal alcohol syndrome
Elevated 17-hydroxyprogesterone
Congenital adrenal hyperplasia
What does the Guthrie test look for?
PKU (presence of metabolic products of phenylalanine in the urine)
Protein content of human milk vs. formula and advantage it conveys
Human milk is 70% whey and 30% casein, and whey is more easily digested and helps improve gastric emptying