congenital diaphragmatic hernia 07.11.2014
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S
Morning Report 7/11/2014
Sydney Ryan PGY2
HPI: 7 month old presenting to the FUN clinic for failure to thrive.
He is breastfed and is noted to have difficulty breathing and sweating during feeds.
He has stool about once every other day and has 3-4wet diapers per day.
He had a recent OM that was treated with Abx and mom noted poor feeding prior to treatment.
He refuses the bottle, but is able to supplement with breast milk through a syringe or SNS.
Denies bloody stool, excess vomiting, bilious vomit.
Breastfeeds about every 2-4hours, just introducing solid foods.
History Continued
Birth History: Born at 39 4/7 NSVD without complications. APGARS 8,9. BW: 3539g (AGA) with good tone and peripheral pulses noted on exam. Mom is 25yr old G2P2. Lost 12 ounces prior to discharge, but regained with increase frequency of feeds
Family History: Maternal IBS, on gluten free diet. Multiple family members with biospy-diagnosed Celiac Disease. No CDH, seizures, FFT, genetic/metabolic issues.
History Continued
Social History: Mom and Dad both work. He lives at home with one older sibling, who is healthy, and mom and dad.
No Hospitalizations or Surgeries PMH: AOM x one, failure to thrive ROS: weakness, low energy, poor PO, developmental
delay. Otherwise negative, per parents.
Development
Development: Met 4month milestone: smiles spontaneously, babbles,
reaches/grabs toys with one hand, holds head steady, hands to mouth
Has NOT met some 6 month milestones: Rolling over, sitting alone, does not pass objects from one
hand to the other, no real consonants (no ‘ma’ or ‘ba’) Has met some 6 month milestone:
Recognizing us as strangers, brings toys/objects to mouth
Physical Exam General: no acute distress, smiles, interactive, grabs for toys, whines
appropriately Head: normocephalic, atraumatic, anterior fontanelle open no overriding sutures,
appropriate hair growth Ears: TM normal, canals normal, no extra tags Eyes: no scleral injection/erythema, appropriate placement, no epicanthal folds,
no discharge Nose: nares patent, appropriate placement Mouth: moist mucus membranes, no ulcers or lesions, no erythema, normal tonsils
and pharynx Neck: supple without masses or tenderness, no lymphadenopathy noted CV: regular rate and rhythm, somewhat distant heart sounds, normal S1/S2,
capillary refill 2-3seconds, strong pulses peripherally
PE Continued
Chest: symmetric chest rise, no retractions, nasal flaring or grunting, right side clear to auscultation, left difficult to appreciate air movement
Abd: soft, nondistended/nontender, BS appreciated, no guarding or rebound
GU: normal circumcised male with testes distended bilaterally Back: no scoliosis, no hair tuft or sacral dimple, normal rectum Skin: mild eczema on abdomen, no other rashes or abnormalities Neuro: CN II-XII intact, 2+ reflexes both U and L extremities,
strength and tone slightly decreased globally, good head control, unable to sit unassisted, swallowing without choking
S
CaseThis is a 7 month old male with failure
to thrive and difficulty with feeds.
Differential Diagnosis
Endocrine Growth Hormone
deficiency Thyroid disease Diabetes Mellitus Adrenal Insufficiency Rickets
Cardiac CHD
Renal RTA Chronic inusfficiency
Rheum JIA SLE
GI GERD IBD Esophagitis Celiac Protein-losing
enteropathies Hernia Biliary Atresia Pyloric stenosis
Infectious HIV/AIDS TB Parasites Recurrent infection Infectious diarrhea
Pulm Cystic Fibrosis Bronchopulmonary dysplasia CPAM
Immune Immune deficiency (SCID,etc)
Metabolic Inborn errors of metabolism Myopathies
Other NAT/abuse FAS Poverty Cleft palate
Neuro CP
Laboratory Results
Newborn screen normal BMP: Na: 138, K: 4.2, Cl: 106, CO2: 20, Glucose: 87,
BUN: 7, Cr: 0.24, Ca: 9.7 HFP: Prot: 6.1, Alb: 3.8, Bili, total: 0.5, Bili,direct: 0.2,
Alk phos: 149, ALT: 27, AST: 54 TSH: 1.38 ESR: 0 Sweat Test: CF unlikely (Chloride 5 and 9) CBC: WBC 7.1, H/H 11.6/35, plts 309 with nl diff
Chest X-ray
Congenital Diaphragmatic Hernia
1 in 2,000- 3,000 live births Occurs between 4th and 12th week of gestation Chromosomal abnormalities in 34-50% Two different kinds: Bochdalek and Morgagni Many diagnosed with prenatal ultrasound or at birth
with respiratory distress. The average age of presentation for the Morgagni is 22months.
Congenital Diaphragmatic HerniasBochdalek Hernias 95-99% of CDHs- posterolateral defect
Morgagni Hernias 1-5% of CDHs- anterior defect
Morgagni Hernias
Other associated defects: Congenital Heart
disease Inguinal hernias Malrotation Umbilical hernias Hypospadias Anorectal
Malformations Hydrocephalus Undescended Testes Hemangioma Scoliosis
Presentation: recurrent respiratory infections, GERD, Incidentaloma
CDH Complications
Pulmonary Hypoplasia Pulmonary Hypertension Feeding difficulties GERD Hearing impairment Growth retardation Developmental Delays
Etiology of CDH
Chromosomal abnormalities Tetrasomy 12p Trisomy 21 and 22 Fryn’s syndrome Beckwith-Weidemann
syndrome Denys-Drash syndrome
Vitamin A deficiency
Maternal use of Mycophenylate Mofetil and Allopurinol
Single gene mutations
70% Unknown etiology
Follow Up
Recommended follow up includes: Hearing evaluation Echocardiography Neurodevelopmental evaluation Lung function testing Growth Eventually testing/close monitoring for
scoliosis/chest wall deformity screening
References
Veenma, DC et al. Developmental and Genetic aspects of congenital diaphragmatic hernia. Pediatric Pulmonology. June 2012; 47(6): 534-545.
Slavotinek, Anne. The genetics of common disorders- Congenital Diaphragmatic Hernia. European Journal of Medical Genetics. April 2012. 1769-7212
Al-Salem, Ahmed H, et al. Congenital Morgagni’s Hernia: A national multicenter study. Journal of Pediatric Surgery. August 8, 2013. pg 503-507.
Leeuwen, Lisette and Fitzgerald, Dominic. Congenital diaphragmatic hernia. Journal of Pediatrics and Child Health. January 2014.
Hendrick, Holly, et al. Congenital diaphragmatic hernia in the neonate. UpToDate. January 12, 2014.
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