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Syndromes
Term | Description | Workup/ Treatment |
---|---|---|
DiGeorge | -22q11.2 deletion -Thymus Hypoplastic (transplant helpful) -Tetany -Third & fourth pharyngeal pouches -Facial and Heart abnormalities -Viral and Fungal infxns -Behavioral / Bipolar disorder -Cleft Palate | -T cell decreased -PTH decreased -Ca decreased -Vit D |
DRESS Drug Rash Eisinophilia Systemic Symptoms | -life threatening -prodrome -fever, malaise, pruritic rash, lymphadenopathy, dysphagia | -occurs 2 to 6 wks after offending agent |
SCIID | ||
CHARGE Coloboma | ||
HUS | -microangiopathic hemolytic anemia -thrombocytopenia -AKI -Shiga toxin E Coli 0157:H7 -Abd pain, emesis, 🩸 diarrhea | -nothing can be done to mitigate risk |
SJS - 2 mucus memb (oral, ocular) -prodrome of fever and malaise -rash 1-14 days later -spares palms and soles | -Nikolsky sign -TMP-SMZ -Lamotrigine, Carbamazepine, Phenytoin, Valproate, NSAID, allopurinol -infxn: Mycoplasma, HSV, Mycobacterium TB, GAStrep, HBV, EBV, Enterovirus. | Consult Ophtho, risk of senechae |
SIADH | -to differentiate from HypoNa dehydration check WEIGHT | |
WPW | SVT | |
Wilms tumor | -associated with WAGR syndrome (Wilm, Aniridia, GU anomaly, Retard) and Beckwith-Wiedemann syndrome (macrosomia, macroglossia, omphalocele, hypoglycemia) | |
PRES -Posterior Reversible Encephalopathy Symdrome | -Tacrolimus | |
Lemierre Syndrome -Fusobacterium necrophorum -anaerobic gram negative bacillus -Forgotten disease | -pharyngitis, high fever, multi organ | -Ceftriaxone + Clindamycin + Metronidazole -CT neck |