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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.