Peds 10 Flashcards
Pathogenesis of Duchenne muscular dystrophy
X-linked frameshift mutation causing a absent or truncated dystrophin gene
How do you diagnose Duchenne’s
DNA peripheral blood analysis and/or immunohistochemical detection of abnormal dystrophin on a muscle biopsy
Will also have elevated CK due to muscle breakdown
What is the most common cause of death on Duchennes
o Dilated cardiomyopathy is common cause of death
- Respiratory failure is also a common cause
Inheritance of muscular dystrophy
X-linked recessive
What is a neuroblastoma
• Most common tumor of adrenal medulla in children
Describe metastatic spread of neuroblastoma
o Typically involves the long bone and skull, lymph nodes, liver, and skin
o Bluish skin discoloration represents subcutaneous infiltration
o Pulmonary involvement = respiratory distress
o Bone marrow involvement may cause bone pain and pancytopenia
o If orbital bones are involved, proptosis and bluish periorbital discoloration, described as “raccoon eyes”
o May present with opsoclonus-myoclonus syndrome (“dancing eyes-dancing feet”)
Describe lab markers of neuroblastoma
o Increased HVA and VMA in urine
Diagnostic test of choice for malrotation with volvulus
Upper GI - will show “corkscrew” pattern of the duodenum or “bird’s beak” of the 2nd or 3rd portion of the duodenum
Tx of malrotation with volvulus
Emergent surgery
Preceded by evaluation of fluid status
Describe posterior urethral valve
o An obstructing membrane in the posterior male urethra as a result of abnormal in utero development
o Most common cause of bladder outlet obstruction in male newborns
Describe management of male neonate with UTI
Evaluation of anatomy and function is necessary - renal US and voiding cystourethrogram should be performed
Most common infections caused by Klebsiella, Enterobacter, and Serratia
Pneumonia and UTI
Tx of Klebsiella, Enterobacter, and Serratia
Are often multi-drug resistant
Can treat with Carbapenem (Amy’s Hover car repair when others faiL)
Describe signature feature of Klebsiella
Currant jelly sputum with pneumonia
Describe infectivity strength of Salmonella vs. Shigella
Salmonella is acid labile - need high dose to cause infection
Shigella is acid stable - low dose can infect
What part of the body is chronic salmonella carried in
Gall bladder
Tx of Salmonella
Fluoroquinolones
What type of diarrhea is caused by Salmonella
S. Typhi = pea soup diarrhea
S. Enteritidis = inflammatory diarrhea