Pediatrics Flashcards
Do simple febrile seizures require a workup?
No. patients can be discharged home from the emergency department with reassurance
AR deficiency of phenylalanine hydroxylase?
PKU - build up of phenylalanine. failure to convert phenylalanine to tyrosine
Clinical features of PKU?
intellectual disability, fair complexion, eczema, musty urine and body odor
Diagnosis of PKU?
newborn screening (mass spec) quantitative amino acid analysis
Aldolase B deficiency?
hereditary fructose intolerane
introducing veggies and fruits leads to accumulation of fructose-1-phosphate. affected infants present with vomiting, poor feeds, lethargy
Galactose-1-phosphate uridyl transferase
galactosemia: present with jaundice, hepatomegaly, failure to thrive the first few days after birth. After consumption of breast milk or formula
large fontanelles, failure to thrive, hypotonia?
hypothyroidism
After suspecting Turner syndrome, what should be your first step in completing a diagnosis or in management?
Pelvic ultrasound to evaluate internal female anatomy
First step in evaluation of primary amenorrhea?
Pelvic exam or ultrasound
definition of primary amenorrhea?
absence of menarche by age 15
When should you do a brain MRI in the evaluation of primary amenorrhea?
uterus is present on ultrasound and serum FSH is low or inapp normal. Need to rule in/out pituitary or hypothalamic tumors
why do prolactinomas cause amenorrhea?
they inhibit GnRH release
Gold standard for diagnosis of Turners?
Karyotype
treatment for OCD?
high-dose selective SSRIs and exposure/response prevention based psycotherapy
Fever, pharyngitis, gray vesicles/ulcers on posterior oropharynx?
Herpangina from Coxsackie A virus
How does presentation of herpetic gingivostomatitis and herpangina differ?
herpetic gingivostomatitis would be found on anterior pharynx whereas coxsackie is posterior. herpetic- erythematous gingiva whereas coxsackie is gray vesicles/ulcers. herpes has grouped vesicles not solitary vesicles.
most common congenital cyanotic heart defect to present in neonatal period
transposition of great vessels
how does transposition of great vessels present?
First few hours of life with cyanosis and a single, loud, second heart sound.
“egg on a string” heart
findings on x-ray for transposition of great vessel
Harsh pulmonic stenosis murmur and a VSD murmur are found in what congenital heart defect?
Tet of Fallot.
“Boot shaped” heart due to RVH is seen in?
Tet of Fallot
Single S2 heart sound, VSD murmur and minimal blood flow in pulmonary artery?
Tricuspid atresia
If transposition of great vessels is suspected, what should you give right away?
prostaglandins to keep ductus arteriosus patent to optimize inter-circulatory mixing. also obtain an Echo.
What do ASD, dextrocardia, PDA and VSD have in common?
All acyanotic congenital heart diseases
2-3 year old child with impaired visual adaptation to darkness, photophobia, dry skin, xerosis conjunctiva, xerosis cornea, keratomalacia, bitot spots, follicular hyperkeratosis of extensor surfaces
vitamin A deficiency
Patients with Tourette syndrome are at significant risk for what other psych comorbidities?
ADHD and/or OCD
selective mutism
verbal and talkative at home but refuse to speak in specific social settings- commonly at school. (considered an anxiety disorder)
life-threatening descending flaccid paralysis in an infant?
botulism. clostridium botulinum spores
treatment for botulism?
human derived botulism immune globulin
Other common cause of C. botulinum other than honey ingestion of the spores?
Spore inhalation from environmental dust
What is the treatment for ingestion of preformed C. botulinum in food?
Equine-derived botulism antitoxin
MOA of botulinum toxin
blocks Ach release at presynaptic neurons
Cephalohematoma
subperiosteal hemorrhage. presents a few hours after birth as scalp swelling limited to 1 cranial bone. no discoloration of scalp
treatment for cephalohematoma
most cases resorb spontaneously within 2 weeks - 3 months
caput succedaneum
diffuse, sometimes ecchymotic swelling of scalp. crosses suture lines.
cranial pulsations, increased pressure when crying, evidence of bony defects?
cranial meningocele
appearance of “pink stain” or “brick dust” in newborn diapers represents?
uric acid crystals
SCM muscle mass, ipsilateral head tilt, contralateral chin deviation?
Congenital muscular torticollis
Treatment strategies for congenital muscular torticollis?
increased tummy time, passive stretching, physical therapy
cystic hygroma
lymphatic system malformations located in posterior triangle of neck. often detected prenatally. high association with aneuploidy
physical exam of cystic hygroma would show
fluctuant mass that transilluminates
craniosyntosis
premature closure of cranial sutures
anemia of prematurity is caused by?
due to diminished epo levels, shortened RBC life span, blood loss (iatrogenic blood sampling)
Meconium ileus is virtually diagnostic for?
cystic fibrosis
congenital aganglionic megacolon?
Hirschsprung disease
99% of healthy, full-term infants pass stool within the first ____ hours of life
48
character of meconium in meconium ileus?
thick and inspissated
narrow and underdeveloped microcolon should make you think of?
meconium ileus
Hirshsprung disease is associated with?
down syndrome
“squirt sign?”
forceful expulsion of stool after rectal exam
X-linked agammaglobulinemia (Bruton agammaglobulinemia) results from?
impaired maturation of B cells. patients have small or absent lymphoid tissue. experience recurrent sinopulm and GI infections.
Patient with recurrent infections and “small tonsils” should make you think of?
x-linked agammaglobulinemia
adenosine deaminase deficiency
gene defect resulting in impaired T cell development- severe combined immunodeficiency.
Patients who have recurrent disseminated bacterial infections particularly with encapsulated bacteria may have what deficiency?
complement
recurrent skin and pulm infections wth catalase positive organisms and failure to thrive?
impaired oxidative burst
hypocalcemia, cardiac defects, failure to thrive, recurrent infections?
thymic hypoplasia. DiGeorge syndrome
cystathionine synthase deficiency
homocystinuria: errors in methionine metabolism
differential diagnosis of marfinoid body habitus?
marfan syndrome, homocystinuria, MEN syndrome
fair hair, fair eyes, developmental delay, cerebral vascular accident are pathognomonic for?
homocystinuria
Treatment for homocystinuria?
B6, folate, B12 to lower homocysteine levels and antiplatelet and anticoag to prevent stroke
some superficial infantile hemangiomas require treatment with _____ while most regress spontaneously
B-blockers
nevus simplex (macular stain, salmon patch, stork bite, angel kiss)
blanchable, pink-red patches, occur on eyelid, glabella, midline of nape of neck
post-exposure prophylaxis for rabies
rabies immune globulin and rabies vaccine immediately after exposure to high-risk wild animals
hydrophobia and aerophobia (feeling of water or air triggers involuntary muscle spasms) is present in?
human rabies
incubation period for rabies and prognosis?
1-3 month incubation. almost all patients die within weeks.
coins in the esophagus can be observed up to ___ hr after ingestion
24
Duchenne muscular dystrophy presents as
age 2-5 with bilateral calf pseudohypertrophy and Gower sign (using hands to push on legs to stand)
transmission of duchenne muscular dystrophy is?
X-linked recessive
gold standard for diagnostic testing of duchenne muscular dystrophy is?
genetic testing. deletion of dystrophin gene on Xp21
Serum creatinine phosphokinase and aldolase levels are elevated when?
screening for muscular dystrophies
congenitally absent or underdeveloped uterus, cervix, upper vagina in a patient with breast development, body hair growth? normal ovaries and external genitalia
mullerian agenesis
5-alpha reductase deficiency
cant convert testosterone to more potent DHT 46 XY genotype. male internal genitalia. female or undermasculinized external genitalia at birth. at puberty they experience masculinization
46 XY karyotye with defective androgen receptor and male internal genitalia. testicular testosterone is converted to estrogen-breast development
androgen insensitivity
cornell criteria
tall R wave in avL
Deep S wave in V3. characteristic for LVH
vomiting, encephalopathhy, hepatic dysfunction, abnormal behavior are presenting symptoms for?
reye syndrome
blue sclera, hearing loss, recurrent fractures, opalescent teeth
osteogenesis imperfecta
Vitamin D deficiency and pathologic fractures?
Rickets
blue-gray to yellow-brown discoloration of teeth should make you think of?
osteogenesis imperfecta (dentinogensis imperfecta)
4 main causes on differential diagnosis of stridor?
croup, foreign body (acute)
laryngomalacia, vascular ring (chronic)
when stridor improves with neck extension, think of ___ as the etiology?
vascular rings and slings
collapse of supraglottic structures during inspiration that presents with chronic inspiratory stridor (improves with prone positioning)
laryngomalacia
Infants with weight < 10th percentile may have complications such as?
hypoxia, polycythemia, hypothermia, hypoglycemia, hypocalcemia
most significant risk factor for ICH in an infant?
prematurity
chylothorax exudative or transudative effusion?
exudative
pleural effusion with high triglyceride count should make you think of?
chylothorax due to disruption of lymphatic flow
metatarsus adductus
congenital foot deformity where forefoot turns inward. foot is usually still flexible and this resolves spontaneously also normal neutral position of hindfoot in contrast to club foot.
how is measles spread?
infected droplets
prodrome of measles?
fever, cough, coryza, non-purulent conjunctivitis, koplik spots
describe the rash of measles
erythematous, sometimes puritic macular rash that starts on face and spreads in cephalocaudal direction
diagnosis of measles?
PCR
Roseola is caused by?
HHV6
When does rash in roseola appear?
when the fever resolves
“3 day measles”
Rubella (no koplik spots) lower fever
brief period of apnea, cyanosis triggered by emotional change
breath holding spell
left axis deviation on ECG and decreased pulm vascular markings should make you think of?
tricuspid atresia
3-4 months, hypoglycemia, seizure, lactic acidosis, hyperuricemia, hyperlipidemia, thin extremities, short stature, hepatomegaly, doll-like face with rounded cheeks
glucose 6 phos deficiency. von Gierke disease.
inability to break down glycogen into glucose
gold standard treatment for SCFE
immediate surgical screw fixation
idiopathic avascular necrosis of the hip that affects boys age 5-7 years old?
legg-calve perthes disease