Hot Seat #8: Vomiting, NF1 Denouement

Case presentation by Rosemary Thomas-Mohtat with Jennifer Chapman on the Hot Seat

This is a case of a 2 year-old generally healthy girl with NF1 who presents with vomiting and decreased energy over the last day. Her exam is remarkable for being tired. She otherwise has normal vital signs, perfusion, and a non-focal neurological exam. For the full case presentation, click here. Thank you to Dave, Dewesh, Sabah, Asha, and Joelle for your comments.

Here's what you said about the case:

1. Would you like to obtain head imaging as part of your initial work up?

In addition, one person also wrote, "More detailed history: emesis overnight? lethargy upon awakening? More physical exam: meningismus?" while another said, "I think she needs an MRI - I am not sure of the urgency. Is she having signs of increased ICP? She needs to go to the main campus and get Neuro consult and possible MRI."

2. The nurse has already given zofran. If the patient improves and takes PO, would you discharge without further work-up?

In addition, one person said, "I think she needs work up urgently - perhaps not emergently - but if I had concerns about follow up - this is slam dunk admission. If this is a good family - and neuro is ok with it and willing to help facilitate - she can get MRI in the near future as an outpatient. (next few days)."

Hot Seat Response
by Jennifer Chapman
It is my turn to be on the hot seat, so I will offer my response, unclouded by the previous answers, though very similar…
To remind myself, NF-1 is diagnosed with 2/7 criteria: 6+ hyperpigmented macules, neurofibromas, ax/inguinal freckling, optic glioma, 2+ Lisch nodules, skeletal abnormalities, 1st-degree relative with NF.

Now, looking at this child with vomiting, my questions are what are disease-specific concerns that cause vomiting and what are issues in otherwise healthy children that cause vomiting?
Disease-specific:
- vomiting from increased pressure from a brain tumor: while children with NF-1 do have an increased risk of brain tumors, these are most often optic nerve gliomas, which cause subtle visual field defects to complete vision loss. There is no evidence of a brain tumor by hx/exam.
- Vomiting from a hypertensive emergency: children with NF-1 do have an increased risk of pheochromocytomas. I checked her BP on the NHLBI table: she is at the 90th/95th %ile if small for age. I might recommend rechecking her BP in follow-up, but no more needs to be addressed now.
- Vomiting from abd obstruction: children with NF-1 can get sm bowel stromal tumors and neurofibromas. The description is not one of a child with obstruction: the frequency of emesis is decreasing; the abdomen is only mildly distended but otherwise normal; no abd pain described.

Causes of vomiting in an otherwise healthy child:
- UTI: maybe
- Viral illness
- Intussusception: she is on the older side unless she has a lead point. Not a hx that points to this: 3 days of symptoms that are improving, no mass/fullness on exam, no bloody stool (admittedly a late sign)

In ED, my thought is to offer child po trial. If she fails, consider a flat plate/upright or flat plate/left lateral decub to look for signs of obstruction.
As always, remind family what to return for: abdominal distension/significant pain, repeated vomiting/bilious vomiting, lethargy, signs of dehydration.

The Denouement
by Rosemary Thomas-Mohtat
We obtained a head CT, which showed no lesions concerning for mass effect.
While we were waiting for the official read of the Head CT, the patient began perking up on her own. She tolerated PO, without Zofran. Her abdomen remained benign.
After a short period of observation, she was discharged home to follow up with her PCP, with instructions on reasons to come back to the ER.

Thanks for participating, everyone. Come back next week when Kaynan will present the Hot Seat case.