Syndromes! Flashcards
Reye’s Syndrome
Aspirin/Salicylate use in children
Irritability, vomiting, behavior changes, coma, stupor, lethargy
Elevated ammonia, bilirubin, alk phos, prolonged PT, hypoglycemia
Liver biopsy showed microvesicular steatosis
VACTERL
Vertebral anomalies Anal Atresia Cardiac anomalies TE fistula Esophageal atresia Renal anomaly Limb anomalies
WAGR
Wilm’s Tumor
Aniridia
GU abnlties
Retardation
Leisch-Nyhan Syndrome
Hypoxanthine-Guanyl Phosphoribosyl Transferase deficiency
Elevated uric acid–> gouty arthritis, tophi
Dystonia, choreoathetosis
Self-mutilating behavior (i.e biting etc)
Wiskott-Aldrich Syndrome
Atopic Dermatitis/Eczema
Thrombocytopenia
Immunodeficiency: T-lymphocytes deficiency
*definitive tx = BMT
Hyper IgE (Job) Syndrome
Elevated IgE, eosinophilia
Recurrent Staph Skin infections
Chronic pruritic dermatitis
Course Facial Features
Chediak-Higashi Syndrome
*Decreased chemotaxis and degranulation
[Tx: daily bactrim + ascorbic acid]
Oculocutaneous albinism, HSM, pancytopenia, peripheral/cranial neuropathies
Bacterial infxns: typicall S. aureus
*Neutropenia + Giant lysosomes = diagnosis
Fanconi Syndrome
Amino aciduria, glucosuria, phosphaturia
*Can cause RTA type II (reduced bicarb reabsorption in the proximal tubule)
HELLP Syndrome in Pregnancy
HTN Edema Elevated Liver Enzymes Low Platelets Proteinuria
CHARGE Syndrome
Coloboma Heart abnlties Atresia of choanae Renal anomalies Growth abnlties/hypogonadism Ear abnormalities
Serotonin Syndrome: Give Cyproheptadine
UP: tachy, HYPERTHERMIC, SWEATY, nausea, diarrhea
OFF: agitated, confused, hallucinating
Shaky: Tremors, MYOCLONUS
DiGeorge Syndrome
Low-ears, wide-set eyes Learning disabilities Tetany from HypoCa 24-48 hrs after birth (2/2 hypoparathyroid) Absent thymic shadow CXR Truncus Arteriosus/Tet of Fallot
Diamond-Blackfan Syndrome
Pure red cell aplasia* Facial anomalies Cardiac issues Hypospadias Cataracts
Neonatal Abstinance Syndrome
Irritability, rhinorrhea, high-pitched cry
Sweating, tremors, vomiting, diarrhea
Fetal hydantoin Syndrome (Phenytoin)
Digit hypoplasia, dysmorphic facies, MR, growth problems
