Professional Documents
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The Case
y 1970 g (SGA) F born at 38 3/7 weeks to a 26 yo American
Indian G4P2012 (1 fetal demise, unknown etiology) in Vernal y Determined IUGR and labor induced; FTP resulting in c/s, APGARS 7, 8 y Maternal labs: Rubella NI, RPR/Hep B/Gonorrhea/Chlamydia negative, GBS unk y Maternal hx hyperthyroid and taking Methimazole
Background
y Family History: No genetic/cardiac/respiratory illnesses. y Social History: Concern for noncompliance with prenatal
care. Hx maternal alcohol and tobacco use (stopped when determined pregnant). Mom planning on giving baby up for adoption.
>95% y Amp and Gent started y Transferred to PCMC on 2 L 100% O2 with sats 75-90%
Admission Exam
T 36.9, HR 152, RR 52, BP 83/66, 85% 2 L 100% FiO2, preductal sats 85%, postductal 84% Weight 1970 g (0%), Length 44 cm (0%), OFC 32 cm (3%) GEN: High-pitched cry, cyanotic, dysmorphic facial features HEENT: NCAT, AF small but open and flat, forehead flat with underdeveloped supraorbital ridges, sparse eyebrows, hypertelorism with small eyes, PEERL, + RR, eyes downward slanting, ears low-set bilaterally with posterior rotation, patent nares, NC in place, mouth small with downturned corners with high arching but intact palate, upper lip thin, philtrum flat but not elongated, flattened nasal bridge NECK: Full ROM, no nuchal fullness CV: RRR, additional heart sound heard, no murmurs, 2+ distal pulses, normal cap refill RESP: CTAB, no rales or rhonchi, no increased work of breathing/retractions/grunting ABD: Soft, nondistended, nontender, no organomegaly, normal BS heard GU: Labia minora larger than labia majora, patent anus EXT: Upper and lower extremities normal and normal size, no unusual palmar creasing, normal number of digits, no edema/clubbing NEURO: Hypotonia, reflexes intact
Imaging
y OSH CXR: abnormal shaped heart, prominent pulmonary
vessels y Admission CXR: Mild prominence of the cardiac silhouette with the cardiac apex on the left. No comment on thymic shadow. y Echo: Tetralogy of Fallot with probable pulmonary atresia and MAPCAs.
Hospital Labs
y OSH mec screen negative y Started TPN, obtained TPN labs:
y Na 140 , K 4.7 , Cl 106 , HCO3 25 BUN <2 , Cr 0.51, Glu 63, Alb
DiGeorge Syndrome
y Chromosome 22q11.2 deletion (90%) y Abnormal embryological pharyngeal pouch development
y Thymus y Thyroid y Parathyroids y Aortic arch y Ear
Low-set, posteriorly rotated ears, ocular hypertelorism, palate anomalies, long, tapered fingers
Cardiac
y Need Echo y Most common cardiac anomalies
y Interrupted aortic arch y Tetralogy of Fallot* y Truncus arteriosus y Atrial or ventricular septal defects y Vascular rings
Parathyroid Hypoplasia
serum calcium serum phosphorus parathyroid levels
Thymic Hypoplasia
y Results in T-cell deficits
Complete DiGeorge Partial DiGeorge
- Absent thymus Variable T lymphocyte counts and - CD3+ counts <1-2% circulating function lymphocytes
y CXR to look for absence of thymic shadow y CBC looking for lymphopenia y Immunoglobulin levels
Management
y Multiple specialists involvement
y Cardiology y Endocrine y Immunology y Genetics y ENT/Speech