Hot Seat #29 Denouement: Fussy and delayed

by Breanna Barger, Johns Hopkins
with Alex Rucker, Children's National, on the Hot Seat
case edited by Emily Willner

The Case
This is case of 3 month old with increased fussiness for several weeks and decreased tone. For a complete case presentation, click here.

Here's how you answered our questions
Which of the following would be the most fruitful next step in evaluating this baby?
Most people seemed to agree that the CT was the next important step, although a higher percentage of people with > 3 yrs of experience (faculty/pediatricians) would call the PCP compared to those with < 3 yrs of experience (fellows/pediatricians/PA/NP). No one really wanted to do a CBC or just watch this play out.

What is your next most important step?
Those with > 3 yrs of PEM experience leaned towards discussing the case with genetics while those with less than 3 yrs of PEM experience were pretty evenly split between genetics, admission for MRI, and a skeletal survey. No one with > 3 yrs experience was interested in a head ultrasound, calling CPS, or cultures. The other group also didn't care about a head US or CPS.

Clinical Pearls
Thanks to Dave Mathison, Mordechai Raskas (who posted only 25 minutes after Dave), Dewesh Agrawal, and Julia LaJoie for your comments and Alex Rucker for being on the Hot Seat. People were debating trauma versus a metabolic disorder based on the history and physical findings. Dave and Mordechai point out that while this case is challenging, it may be of limited interest to the ED and can be worked out on the floor. Dewesh notes the historical aspects of the case that raise flags for NAT and reminds us to prioritize the most pressing things to address (inflicted injury) and consider a genetic disorder after ruling these out. Julia points out that if we think that the elevated LFTs are from trauma, we would need more abdominal imaging.

On the possible etiologies

"The head CT as Dave notes shows extra axial fluid. This has a relatively small differential (found after some quick searching) and in this case I would focus on benign external hydrocephalus, shaken baby syndrome, Menkes Disease, and Fumarate Hydratase Deficiency (a very rare metabolic disorder)." -Mordechai Raskas, Children's National

"If it's been going on since 2mo of age and the kid has some markers of subacute reactants (thrombocytosis), I would argue this is a subacute/chronic problem." -Dave Mathison, Children's National

On what to make of the CT

"It looks to me like there is extra-axial fluid with different density layers which hints at some subacute blood. This can be a sign of abuse or a few rare disorders that predispose to this bleeding." -Dave Mathison, Children's National

"There is an increase in extraaxial fluid of low density and then some concern for some higher density material posteriorly, which may just be blood in a sinus, or more ominously, be a bleed." -Dewesh Agrawal, Children's National

On the timing of the skeletal survey

"She needs a skeletal survey and coags before leaving the ED (‘cause if they’re positive she’s going to the PICU for a presumed bleed)." -Alex Rucker, Children's National

"If there isn't soft tissue swelling indicating an acute fracture, defer skeletal survey for upstairs." -Dave Mathison, Children's National

"My first priority would be to rule out inflicted injury by obtaining a formal reading of the Head CT and following that up with a skeletal survey." -Dewesh Agrawal, Children's National

On next steps

"Basic labs-yes. PT/PTT-yes. blood gas-yes. ammonia-yes. skeletal survey, brain MRI, and ophtho exams all can be done from inpatient ward along with further consultation from neurology, neurosurgery, and genetics. if this kid isn't horribly acidotic, hypotensive, or showing signs of herniation....get her out of your ED. Estimated LOS: 120 min." -Dave Mathison, Children's National

"The elevated transaminases could be from muscular bruising from injury. Additional labs I'd obtain include CPK and coags... If the emergent work-up above is unrevealing...(ammonia, urine organic acids, serum amino acids, etc.) and a brain MRI to evaluate for glutaric acidemia or a white matter disease such as Alexander disease or Canavan disease which present in infancy with macrocephaly and hypotonia." -Dewesh Agrawal, Children's National

"1) call the radiologist, 2) fluorescein, 3) skeletal survey, 4) gas, ammonia, glucose, coags, 5) call Genetics, 7) admit for MRI and genetic eval pending skeletal survey and lab results." -Alex Rucker, Children's National 

Click here to read their comments in full.
 
From the Hot Seat
by Alex Rucker, Children's National

I love and hate fussiness. I love it because I'd argue that the potential differential diagnosis is actually EXTREMELY wide and interesting and when and if you fix it, I swear I can hear angels singing. I hate it because 1) parents are more upset by this than almost any other complaint that doesn't involve a body count, and 2) I do not love a screaming child who limits my exam and forces me to yell questions at her crying parents. Due to the wide differential, I usually structure my thinking about fussiness in a head to toe fashion so as not to miss anything (hopefully). For this kid, I came up with the following:
 
HEAD. It's been too long for meningitis...unless it's TB meningitis, which can have a more indolent course. If this young family with some social drama has had this baby in a homeless shelter, then perhaps. BUT. She's a bit young for it, plus she doesn't get a tap in my ED because she could easily have a...

BLEED. CT needs a radiologist and, well, an MRI to make the situation a bit more clear, but she needs a skeletal survey and coags before leaving the ED (‘cause if they’re positive she’s going to the PICU for a presumed bleed) or a…

TUMOR. Maybe in the brainstem or somewhere lower (or higher), but there’s usually some hydrocephalus. We don’t like macrocephaly or poor head control, and I’d argue she may be actually losing milestones just by becoming less active—3 month olds don’t have to do too much in the first place. Again—she definitely needs an MRI. Soon.

EENT. Babies with social drama don’t always get abused or neglected. But sometimes they do, and when their nails get long, and they’re fussy (this kid clearly has something else going on), they scratch their eyes. It’s an easy thing to diagnose and a silly thing to miss. Fluorescein, go, now!! 

HEART, LUNGS, ABDOMEN (semi-glossing over ‘cause not entirely sure that’s where the money is) Fussiness from SVT is often episodic as is the fussiness from intussusception (she’s a little young for that too). Not always, but the eating without lots of vomiting and the heart rate of 180 at full throated wail is fairly reassuring.

GU. Normal urine, so probably no chronic UTI. Maybe a quick sono to r/o hydronephrosis—that can hurt. I’ve also seen a kid this age scream and shoot tiny little stones out of his urethra every 5 minutes for an hour…gives me nightmares to this day.
SYSTEM-WIDE ISSUES
1. She needs a skeletal survey, before she leaves the ED.
2. It is entirely possible there is an IEM. Our job in the ED is luxurious—we note the facial findings (go us!), call Genetics, and if they happen not to answer, get the labs that will assure us that the kid doesn’t need to go to the PICU (a gas, an ammonia, glucose and urine ketones). Menkes is an interesting one, but I think it’s X-linked recessive with profound developmental delay so almost always boys (plus you can see the characteristic hair texture at infancy)—but many other characteristics definitely fit. I’d go ahead and get a copper and ceruloplasmin. Obviously her newborn screen needs to be checked once the office opens.
3. Make sure that smear doesn’t show any blasts…bone pain from marrow expansion can make you act like this too, I would guess, but I suspect she’d look much more sick after a month.
4. This patient has something more serious, but every patient with a fussiness chief complaint must be stripped naked, including diaper, and, if we’re suspecting an IEM, sniffed. (Our job isn’t pretty, y’all.) Abscesses, hair tourniquets, swollen thighs from fxs, etc. can hide in plain sight.

Phew….uh-oh. Tracking board comment section says “plan????” Four question marks. What to do?

Here goes: 1) call the radiologist, 2) fluorescein, 3) skeletal survey, 4) gas, ammonia, glucose, coags, 5) call Genetics, 7) admit for MRI and genetic eval pending skeletal survey and lab results.

The Denouement
by Breanna Barger, Johns Hopkins

A skeletal survey was obtained for occult trauma and genetic abnormalities. It's unremarkable except for this image:
 
An occipital skull fracture is noted with widening of fracture fragments.
Given the persistent tachycardia an abdominal CT with IV contrast is obtained. The scan shows subacute liver, kidney, and adrenal lacerations. The child was admitted to the PICU with concern for NAT. The patient eventually requires bilateral subdural drain placement for seizure activity.

The Hot Seat is a recurrent online case series aimed at facilitating asynchronous sharing of PEM knowledge and experience. Faculty are placed on The Hot Seat and publish their opinions without knowing the case or its outcomes. Cases are based on real cases and written by PEM fellows at Children's National in DC, Johns Hopkins in MD, and INOVA Fairfax in VA to highlight teaching points. Emily Willner is the faculty advisor for the Hot Seat.