with Alex Rucker, Childrens National, on the Hot Seat
case edited by Emily Willner
The Case
Pmhx: born via NSVD at 40 weeks gestation, no birth complications. No medical problems, meds or allergies.
Imm: UTD (2 mo imms)
Fhx: 15 yo M uncle with seizures and autism
Soc: Lives primarily with mother (age 19), no siblings. Father is age 20 and takes the baby on weekends. Multiple members of the extended family live in both households.
On exam VS: T 36.9 P 180 R 38 Unable to obtain BP because of fussiness, wt; 5.67 kg (50%), HC 42cm (99%).
In general the patient appears fussy but consolable with overall decreased tone for age. Macrocephaly, flattened nasal bridge, thick brow ridge, anterior fontanelle is open, flat, and large, other suture lines seem generous
PERRLA, poor head control with significant lag, MMM, OP clear
Chest clear throughout, heart is tachycardic but without murmur,
abdomen is soft, NT, ND no HSM, extremities are wwp, and the child moves all extremities, but with overall decreased tone.
No tenderness or deformity. No clonus. Skin is without rash, lesions, or bruises.
You ask for an IV and fluids, but only 0.5 cc of blood is obtained with the initial attempts.
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You send labs and give a bolus of 20cc/kg NS. The child’s heart rate comes down to the 150s. However, she remains fussy. It is after hours and the covering PCP does not know the baby or have access to records from her visit.
You order head imaging.
In addition to the findings above, you note that the basal cisterns are patent.
Some labs return: WBC 16 Hgb 9.3 Hct 29.8 Plt 730. Normal diff. CMP is normal except Alk Phos: 431, AST: 169, ALT: 516. Ammonia is pending. Urinalysis is normal. The child’s tachycardia returns to the 170s and she seems irritable. The remainder of the exam is unchanged.
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I think this case is pretty straightforward from the ED standpoint, but clearly more entailed for our inpatient colleagues. The bottomline is that fussiness has a somewhat limited differential, but this kid's syndromic features and poor tone raise concerns for a much wider differential that requires further workup and depends on whether there are signs of inflicted injury.
ReplyDeleteACUTE or CHRONIC: well, 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.
IS THIS A GENETIC OR METABOLIC DISORDER: could be. but I don't think this kid is in a metabolic crisis requiring emergent intervention. I like to get blood gases in young infants to look for acidosis and I would send an ammonia and rule out a urea cycle defect. at some point the kid probably needs serum AA, urine OA, and acylcarnitine profile....but i think these are low yield in this ED presentation and may be overtesting, so i would probably defer. but check for urine ketones. that's easy. positive ketones in this age group would be very abnormal.
WHAT IS THE DEAL WITH THE CT? clearly an afebrile macrocephalic fussy patient makes us concerned about something intracranial. this could be acute hydrocephalus (such as from aqueductal stenosis) or intracranial hemorrhage. 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. It's the stuff the child abuse always differentiates from. Glycogen storage diseases, I think. it helps to see bone windows and look for old skull fracture. and send PT/PTT to evaluate for bleeding disorder.
PAIN WITH MOVEMENT: well, a kid who is fussy only when moved does raise concerns for bone fractures (in addition to subdural irritation). of course this kid gets a skeletal survey even if this ends up being a genetic problem. Also think about a deep tissue abscess and a better physical exam to isolate exactly what makes the infant fussy. If there isn't soft tissue swelling indicating an acute fracture, defer skeletal survey for upstairs.
OTHER NEURO STUFF: could this be a neuro-degenerative problem? it's a little early for those. these kids gain milestones and then lose them. think about botulism in a newly floppy infant, but they have an abnormal cry and aren't usually fussy.
WHAT TO DO: 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.
With this case or others with a finding that is highly unusual or distinct, it leads me to start with a differential for that finding. 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).
ReplyDeleteBenign external hydrocephalus seems unlikely as this typically is as its name describes, benign and does not include developmental delay/ hypotonia. Also the extra axial fluid appears more opaque than CSF, but hard to say from this one image. Shaken baby seems unlikely given the uniform picture of the head CT. Fumarate Hydratase Deficiency is so rare it is probably just statistically unlikely and typically apparently has microcephaly. Although, interestingly some of the facial features of this patient are consistent with Fumarate Hydratase Deficiency.
Finally, much of the case seems consistent with Menkes disease, a disorder of copper distribution in the body, and I would focus on that. I would contact the genetic service, asking specifically the best way to evaluate the hair of the patient as this can be characteristic of Menkes. I would also ask if the elevated Alk P/ AST/ ALT are consistent with Menkes or another disease. As Dave also mentioned, much of this can be done on the floor and the patient doesn't necessary need to stay in the ED for this.
Love the prior responses by Dave and Mordechai!
ReplyDeleteFocusing on the CT first. It is hard to read from a single small image on this webpage (ie, I'd like to see multiple images and be able to change the densite presets), but it looks abnormal as previously noted. 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. If, after review of the remainder of the CT images I'm more worried for blood, I'd be really worried about acute on chronic subdurals and the possibility of inflicted injury. What else from the case presentation argues for inficted injury: complex social situation with teenage parents and multiple caregivers, decrease in movements, age of 3 months with increase in recent fussyness, and absence of other clear explanations and lack of fever and chronicity of concerns. However, there appear to be no signs of trauma on examination and no tenderness of extremities on examination, which argues against this diagnosis. However, as an ED physician, 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. The elevated transaminases could be from muscular bruising from injury. Additional labs I'd obtain include CPK and coags.
Now, what about the potential dysmorphic features and the possibility of a genetic disorder? If the emergent work-up above is unrevealing, then this child would warrant admission and genetics/metabolics evaluation. They'd probably recommend laboratory testing (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.
Fascinating case, can't wait for the denouement.
If this patient came to UMC which based on the social history of teen parents and multiple caregivers is where I'd likely see the child, I'd get her admitted ASAP. I'd do a limited skeletal series CXR, skull xray: Which in my experience is better for imaging non-displaced fractures. If the elevated LFTs are from trauma (which would require a CT or FAST to detect) or if any of these other images returned positive I'd make her a trauma transfer. In any event CAPC should be consulted as well as Genetics. But I doubt this is acute trauma because the baby is alert although fussy and the glucose is normal. From a metabolic/genetic aspect other STAT clues I could add to the diagnosis are a VBG, Coags, UA, and TSH. That just about depletes my ED doc tool bag and I would keep her NPO on maintenance IVF.
ReplyDeleteI 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.
ReplyDeleteDue 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.