Pediatrics Flashcards
6+ month child with recurrent sinopulmonary and GI infections, small lymph nodes
Diagnosis and treatment?
Bruton’s X- linked gammaglobulinemia
low B cells, no Ig
Scheduled IVIG, no live vax (other vax don’t give good protection)
Teen with recurrent sinopulmonary and GI infections, small lymph nodes
Diagnosis and treatment?
Combined variable immunodeficiency
-mild XLA
2 out of 3 Ig forms absent
Scheduled IVIG
Previously health child with anaphylactic reaction after blood transfusion
Dx, Tx?
IgA Deficiency
May also have recurrent sinopulmonary and GI infections
Bruton’s X- linked gammaglobulinemia presentation, why?
6+ month child with recurrent sinopulmonary and GI infections, small lymph nodes
low B cells, no Ig
Combined variable immunodeficiency presentation
Teen with recurrent sinopulmonary and GI infections, chronic pulmonary disease
Chronic Granulomatous Disease Pathology and lab values
No respiratory burst, Adensoine deaminase deficiency Macs eat but dont kill Skin abcesses and pulm infections Catalase + bugs Inc WBC, IgM and IgG Nitro blue positive
DiGeorge Syndrome presentation
thymic hypoplasia, low T cells recurrent PCP or fungal infections 3rd pharyngeal pouch malformations Cardiac defects Hypocalcemia
Wiscott-Aldrich presentation
Boys (x linked) Eczema, low platelets, normal infections low WBC, plts Inc IgA and IgE Need BM transplant
Infant with delayed separation of the umbilical cord
Leukocyte adhesion deficiency
Toxic vital signs but no pus
get biopsy
Why do tet spells occur and how to help?
Tet spell: RVOT obstruction, deox blood goes into aorta instead of lungs
-cres-decres systolic ejection murmur, single S2 sound
Knee to Chest (squatting): increases SVR to help push blood into the lungs and reduce hypoxia/cyanosis
Xray finding: pelvis or long bone, lamellated periosteal reaction/ moth-eaten/ onion skinning
Ewing Sarcoma
Xray finding: soap bubble appearance in the epiphysis of a long bone
Giant cell tumor
Methemoglobinemia presentation and labs
cyanosis after exposure to dapsone/nitrites/anesthetics/oxidizing agents
Pulse ox is low 85%ish but PaO2 is normal
-oxidized Hb wont let go of the O2
Methemoglobinemia work up and treatment
co-oximetry to measure Hb v. Methemoglobinemia levels
Tx: Methylene Blue or high dose Ascorbic acid (vitC)
Thalassemia minor presentation
microcytic anemia
nl RDW
compensatory retic count elevation due to bone marrow response
Treatment of rheumatic heart disease
benzathine penicillin G IM q4weeks to prevent recurrence and progression
may also need cardiac monitoring for mitral valve issues
Transient tachypnea of the newborn presentation and pathology
tachypnea, clear lung sounds, intercostal retractions, nasal flaring
CXR: inc lung vol, fluid in interlobar fissures
premature or c section
delayed reabsorption of alveolar fluid 2/2 dec hormonal signals that would have been released during labor
Cyanosis in the first 24 hours, single S2, narrow mediastinum (egg on a string)
No improvement with O2
Diagnosis, next step?
Transposition of Great Vessels
give prostaglandins to keep PDA open
get an echo
Surgery
No murmur=ASD
murmur= VSD or PDA
Kawasaki Disease present and pathophysiology
acute vasculitis of small and medium arteries, persistent release of pro-inflammatory cytokines
- FEVER: 5+ days, unresponsive to tx
- BL non exudative CONJUCTIVITIS
- polymorphous RASH
- erythema, edema, desquam of hands and feet
- Cervical LAD, 1.5+ cm
Labs of Kawasaki Disease
Inc ESR, CRP
hypoalbuminemia
sterile pyuria
leukocytosis, anemia, thrombocytosis
Complications of Kawasaki Disease
Coronary artery aneurysms
MI
Primary amenorrhea ages
13 with no secondary characteristics
15 with secondary characteristics
Most common cause of neonatal sepsis
GBS
Presentation of absence seizures
<20 sec
don’t respond to voice or touch
presence of automatisms
Why are pts with sickle cell at inc risk for pneumococcal infections?
Splenic autoinfarction occurs at an early age
inc risk of infection with encapsulated organisms
Signs that point to iron deficiency anemia
heavy menses, decreased erythrocytes. thrombocytosis
need to r/o or tx IDA before Hb electrophoresis because it may mask a thalassemia
Fanconi Anemia presentation and pathophysiology
Defective DNA repair
Bone Marrow Failure-Aplastic Anemia
short, thumb abnormalities, abnormal skin pigmentation
<1 infant with hypotonia, constipation, irritability, oculobulbar weakness (absent gag reflex, ptosis), hyporeflexia
Botulism
batteries, magnets, sharp objects in esophagus or symptomatic
vs.
small blunt, non toxic, radiopaque object
immediate removal with flexible endoscopy
observation, repeat Xray at 24 hours
Toxo
vs.
CMV
macrocephaly and parenchymal calcifications
microcephaly and periventricular calcifications
First step in precocious puberty work up
Measure Bone Age
Most common pneumonia pathogen in CF pts
Child
vs.
Adult
Staph Aureus
Pseudomonas
Complications of chronic giardiasis
Lactose intolerance, weight loss, vitamin deficiency
Enzyme and mechanism impaired in Von Gierke Disease
Glucose 6 phosphatase deficiency
Impaired glycogen to glucose conversion
Enzyme deficiency and impaired mechanism in Galactosemia
Galactose-1-phosphate uridyl transferase deficiency
Cant break down galactose
12 month milestones
Gross/fine motor, language, social
Stands, first steps, throw a ball Pincer grasp Handful of words Separation anxiety Follows 1 step commands
18 month milestones
Gross/fine motor, language, social
Run, kick a ball
2-4 tower cube, remove clothes
10-25 words, 1 body part
Understands mine, pretend play
2 year milestones
Gross/fine motor, language, social
Stairs with same feet, jump
6 cube tower, copy a line
50+ words, 2 word phrases
2 step commands, parallel play, toilet training
3 year milestones
Gross/fine motor, language, social
Stairs alternating feet, tricycle
Copies circle, uses utensils
3 word sentences, 75% understandable
Age/gender, imaginative play
4 year milestones
Gross/fine motor, language, social
1 foot balance/hop
Copies a cross
Colors, 100% understandable
Cooperative play
5 year milestones
Gross/fine motor, language, social
Skips, catch a ball
Copies a square, ties shoes, dress/bathe, write letters
Count to 10, 5 word sentences
Friends, completes toilet training
Screening in beckwidth-wiedemann syndrome patients
Abd US and alpha fetoprotein
Inc risk of wilms tumor or hepatoblastoma
- Abd US/AFP q3 mo from age 1-4
- Abd US q3 mo from 4-8
- Renal US q3? 8-teen
Test needed for Kawasaki patients
Echo to look for coronary artery aneurysms
Hyposthenuria
What is it? Who gets it?
Inability of kidneys to concentrate urine
Sickle cell trait/disease
Polyuria, low urine spec grav, nl Na
Lesch-Nyhan Syndrome Deficiency
hypoxanthine-guanine phosphoribosyltransferase deficiency
Self mutilation, gouty arthritis
Hereditary spherocytosis triad and test
Coombs neg anemia, jaundice, splenomegaly
Inc retics, hyperbili, Eosin-5-maleimide binding, acidified glycerol lysis tests
Alport syndrome pathophys, presentation, biopsy findings
IV collagen defective in GBM, cochlea, eye
-Boy <10, gross hematuria after URI, fam hx of hearing loss, CKD
GBM- lamellated due to longitudinal splitting of lamina densa
Normal compliment levels
Treatment for otitis externa
Topical fluoroquinolone (cipro) +/- topical steroid
MCC pediatric stroke
Sickle Cell Disease
Precocious puberty, irregular (one-sided) cafe au lait macules, polyostotic fibrous dysplasia (recurrent fractures)
Disease?
McCune-Albright Syndrome
Angular cheilitis, stomatitis, glossitis, normocytic normochromic anemia, seb dermatitis
Vit deficiency?
Vit B2 riboflavin
Additional Vaccinces for HbSS
PPSV 23 and MCV 4 at 2 yrs old
fever, AMS, focal seizure, dx? Work up?
encephalitis
MRI
Barium enema shows narrowed distal colon with proximal dilation, finding? dx?
transition point
Hirschsprungs disease- get rectal biopsy
palpable purpura, thrombocytopenia, arthralgia/arthritis, abdominal pain, renal disease, dx?
Henoch-schonlein purpura
Presentation of HUS, why?
Diarrhea cause by E. Coli O157 H7
- Shiga toxin damages endothelial cells in renal glomeruli
- platelets are activated and form microthrombi that shear RBCs
Normocytic anemia, thrombocytopenia, edema after a diarrheal illness
MCC of CAH
21-hydroxylase deficiency
-Elevated 17-hydroxyprogesterone
Congenital syphilis findings
Rhinorrhea, abnl long bone Xrays, desquamating/bullous rash
Congenital Rubella findings
Cataracts, Heart issues like PDA
