Date: 5/20/21
Time: 4:00pm
Location: Pediatric Wards
You are grateful that the day is winding down when your senior resident approaches you with a new admit who just arrived to the General Pediatrics Unit. It is a transfer from a pediatrician’s clinic here in Albuquerque for concern of malnutrition. Your senior resident gives you the short sign out they received from the PALS attending.
The patient is a 5 mo male born at 38 weeks with a history of VSD followed by Presbyterian cardiology who has had persistent poor weight gain despite fortifying his kcal to 22kcal/oz. He had a swallow study done yesterday here at Carrie Tingley as an outpatient that showed:
“tracheal aspiration and laryngeal penetration with all consistencies as well as sequela of chronic aspiration”.
His PCP called the family and told them they needed to be admitted to evaluate for the need for a g-tube.
Let’s Pause…
-How do you assess a baby with “failure to thrive”?
-Do you have an organized way of thinking about the causes?
-What questions do you have for mom to clarify the history?
Patient is currently taking 4oz of 22kcal Enfamil Gentlease every 2-3hrs. He takes over 20 mins to complete his feeds. Mom does give frequent breaks. He is currently using Dr. Browns preemie nipple. He has been having difficulty gaining weight, initially thought to be due to his VSD. He is followed closely by his PCP, every 2 weeks for weight checks. His PCP recently put him on scheduled Albuterol 2 puffs twice a day and famotidine. Mom says he has normal wet diapers but is having “hard ball” stools. He has history of VSD for which he is followed by Presbyterian. He was taken off his Lasix about 2-3 weeks ago.
Let’s Pause…
-How does the history change your thinking?
-What are you looking for on exam after hearing the history?
Temperature 36.5
BP: 83/47
Pulse 96
SpO2 92%
Respiratory Rate 26
General: Alert, small for age, in no acute distress, cries with exam, easily consoled by mom
Eye: EOMI, normal conjunctiva.
HENT: Normocephalic/atraumatic, anterior fontanelle open, soft and flat, moist oral mucosa, no palatal defects, but palate is high arching
Lungs: Clear to auscultation in all lung fields, no increased work of breathing, no wheezing or crackles
Heart: Normal rate, brisk cap refill, + holosystolic murmur loudest at left sternal border, equal and palpable brachial and femoral pulses
Abdomen: Soft, non-tender, non-distended, normal bowel sounds, no masses, no hepatosplenomegaly
Musculoskeletal: Grossly normal range of motion and strength
Skin: Skin is warm, dry and pink, no rashes or lesions.
Neurologic: Awake, alert, decreased tone for age throughout, no focal deficits noted, moves all extremities equally
Genitourinary: testicles descended bilaterally
Let’s Pause:
-what are some pertinent positives and negatives from the exam?
-what is our next step in evaluating our patient?
-what other specialists/services should be involved in this admission?
You note the heart murmur, but also that the baby does not appear to be in decompensated heart failure with normal vitals and no sign of volume overload on exam, but decide to get records from his cardiologist.
You have mom fill out a release of records and send this to the cardiologist, but also to his PCP and to the hospital where he was born for birth records. The PCP has both growth charts and the results of his newborn screens (she tells you verbally the first two were normal).
You call the nutritionist on call and also let the speech therapist know he is here to get him on the schedule for them to evaluate the next day.
You also decide to call the geneticist and do some screening labs due to the findings on exam and what we have learned from the history…
Let’s pause…
-What syndrome(s) are we suspecting?
-What labs should we order?
-Any further diagnostic testing?
WBC 10.4
HGB 12.2
HCT 37
Platelet Count 332
DIFF:
Neutrophil 29
Lymphocyte 55
Monocyte 7
Eosinophil 8
Basophil 1
C-Reactive Protein <0.3
NA 135
K 4.8
CL 104
CO2 21
BUN 13
CR 0.24
GLU 69
CA 7.3
PO4 5.4
MG 2.4
Ionized CA 1.00
Renal Ultrasound: normal
You call the radiologist to review the swallow study scout film and she notes an absent or small thymus.
Let’s Pause…
-What are the common other findings on exam with this syndrome? What would we be concerned with if the baby had a seizure? Or a history of frequent infections?
-If his genetic tests are positive for this syndrome, what will his PCP need to monitor as he gets older? What other tests should we order?
- A newborn female has a cardiac murmur. Before the cardiologist arrives to evaluate her, she has a seizure. Results of laboratory testing include a serum calcium level of 5.0 mg/dL (1.25 mmol/L). Subsequently, echocardiography reveals an aortic arch anomaly. Of the following, the MOST appropriate test to obtain now is…
a. ABR
b. Thyroid function tests
c. fluorescent in situ hybridization analysis of chromosome 22
d. Brain MRI - What are indications for hospitalization of a child with failure to thrive/malnutrition?
a. extreme malnutrition
b. electrolyte abnormalities
c. failure of outpatient management
d. need to accurately document intake
e. all of the above - An infant born at 37 weeks’ gestation is referred to you for evaluation of severe hypotonia. At birth, the infant was floppy but had no cardiopulmonary distress. During an attempt to feed from a bottle, the formula rolled out the side of infant’s mouth, and he failed to swallow. On physical examination, you note severe hypotonia, silver blond hair, narrow bifrontal diameter, almond-shaped palpebral fissures, thin upper lip, small hands and feet, micropenis, and bilateral cryptorchidism. No omphalocele, high forehead, downslanting palpebral fissues, flat facies or occiput, single transverse palmer crease, contractures, seizures, or skin lesions are present, although the skin is fair and the right hip is dislocated. Both parents are healthy and participate actively in a variety of athletic activities. Of the following, what syndrome do you suspect?
a. Beckwidth-Wiedeman
b. Prader-Willi
c. Cri-Du-Chat
d. Trisomy 21