by Amy Boutsikaris, Inova Fairfax
with Christina Johns, Children's National, on the Hot Seat
The Case
11 year old male with PMH severe autism presents with worsening fatigue over a couple weeks. In addition, he had abdominal cramping while at school 3 days ago and was seen at the pediatrician’s office and diagnosed with a stomach virus. Abdominal pain resolved that evening. Dad now reports extreme fatigue, fever Tmax 101.5 onset today, nausea, and decrease in baseline modest appetite. Denies vomiting, diarrhea, urine output change, hematochezia, or melena.
Physical Exam
BP 100/55 | Pulse 141 | Temp 38.4 °C | RR 26 | SpO2 94% | Wt 28.8 kg
Gaunt, awake but only answering simple questions with short phrases. Withdrawn from his baseline disposition, demonstrating minimal interaction even with parents.
Dry mucous membranes, poor dentition, unable to assess posterior oropharynx due to lack of cooperation. Sclera normal with no icterus, injection, discharge. Pale conjunctiva, Neck supple with no adenopathy.
Regular rhythm. 2+ Pulses & cap refill 4sec. Early systolic murmur at left sternal border.
Lungs clear to auscultation with shallow breath but no increased work of breathing.
Abdomen soft & nondistended with normal bowel sounds and no organomegaly.
Normal rectal exam with guaiac negative stool.
Moving all extremities with no deformity nor edema.
He is arousable with mild to moderate stimulus, with no lateralizing signs. Skin with general yellowish discoloration of entire face & body, no petechiae or rashes.
Questions for you:
More history when mom arrives:
The patient has had a 2-3 pound weight loss over the past weeks. Due to his history of autism, he has a very selective appetite, and has been eating mainly french fries and drinking Fruitables for the past 5 years. He had phases where he would only eat one type of food for a long time, and can even be sensitive to the color of the spoon with which he eats with. He had a normal screening endoscopy for a Kennedy Krieger feeding program they had considered.
An IV is established, additional labs sent and are back. A 20ml/kg NS bolus is started
WBC 4.3 > Hgb 5.1/Hct 14.6 < Plt 221
N58%, L32%, M8%
RBC 1.3L, MCV 112.3, RDW 22
BMP is normal
AST 118, ALT 95, Alk Ph 111, tBili 2.0,TP 5.4, Alb 3.0
PT 17.7, INR 1.5, PTT 36
Repeat VS after NS bolus are BP 120/60 | Pulse 136 | Temp 37.9 °C | RR 24 | SpO2 95%
He remains withdrawn & malaised, but seems to engage slightly more with parents. His breaths remain shallow and unlabored. His cap refill is 3sec.
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I feel like i'm always the first to post comments......
ReplyDeleteIf i was bold-facing what is "abnormal", i'd probably bold face the MCV=112. A macrocytic anemia is pretty uncommon and it points you in a very different direction from other anemias. If it's acquired, it makes me think of either medication-induced, liver disease, or something causing the bone marrow to churn out blood cells. In this case it makes me think of a hemolytic anemia. I'd expect the bili to be elevated, but not always. So a urinalysis, direct coombs, LDH, and retic would be helpful. WBC is low so perhaps "two lines down" but i don't think there is a primary oncologic infiltrative process from the description. and despite his weird diet, i doubt we have a B12 or folate deficiency here. although sure, send the levels.
so in a sick kid i think of things like sepsis, immune-hemolysis, and liver stuff. liver enzymes are reassuring, but INR is elevated and albumin is low so i worry about a burnt out liver and some primary disease there. a pre-albumin might be helpful here.
I'm not sure if the fever is related or not. I guess this could be a primary infectious process, and as ED docs we will probably focus on the symptomatic tachycardia and poor perfusion....but i'm not sure this isn't something acute on chronic.
hmmmm. good case. i think my next tests would be to look for signs of hemolysis, a medication history, give PRBCs, and to consult someone smarter than me :)
Here we have a child who has a restricted diet for years, now presenting with depressed mental status and pernicious development of macrocytic anemia. This is screaming vitamin B12 deficiency (with possible folate deficiency as well). Remember, B12 is only found in animal products (eggs, meat, milk), which his diet seems to lack for years. I'd like to see a lower extremity neurological examination and one focusing on the dorsal columns (if his mental status allows it). I'd empirically give vitamin B12 replacement while awaiting levels.
ReplyDeleteAlso remember that folate deficiency can classically present with depressed mental status and weight lossa and other nonspecific symptoms (such as this child) with macrocytic anemia.
Thanks to Dewesh and Dave for getting the ball rolling with the anemia discussion. I think B12/Folate deficiency has to be considered given the history and CBC result, but another thought that entered my mind in the first paragraph was acute and/or chronic lead poisoning. In an autistic kid with food issues to begin with, pica is not uncommon and could explain several symptoms—the hemolysis, decrease in appetite, the abdominal cramping and “gastroenteritis” symptoms (although I know constipation is also commonly described), and the fatigue/mental status changes. He could be shocky if he ingested a large amount of lead over a short period of time due to fluid shift in the GI tract. I can’t really explain the fever, however. In any event, a more thorough history looking for lead exposure would be important.
ReplyDeleteSo in addition to resuscitating this shocky patient the usual ABC way, I’d be tempted to send lead levels and FEP- free erythrocyte protoporphyrin as well as all those other Heme labs Dave mentioned above. Basophilic stippling in the blood cells shows up in lead poisoning as well as Folate and B12 deficiencies so really aren’t too helpful in sorting those 3 out, but I’d like to hear what the blood smear shows anyway. Before I get on fire ordering a bunch of complicated Hematology tests, I tend to consult them relatively early so that I don’t wind up over-ordering and end up with results I don’t know how to interpret.
Lead levels seem to take forever to come back, so Radiology may have to be considered---? AXR to look in the GI tract?—to help you decide whether or not you need to start chelation therapy and/or whole bowel irrigation. I’d probably send a type & hold too.
I love the Poison Control folks, so I’d probably check in with them as well as I started down the road of lead poisoning. These days we don’t think of it very often, especially acutely.
My understanding is that lead intoxication classically presents as a mIcrocytic (not mAcrocytic) anemia.
DeleteThis child has a major dietary issue, his diet is very limited. Yellow discoloration is more likely due to carotenemia
ReplyDelete