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
