What is wrong with these kids? (Mystery Diagnosis)


My area has recently seen 3 children at 2 separate facilities present with eerily similar and so far undiagnosed problems. Similar age group, but nothing else in common (different locations, ethnicities, no similar contacts or travels, etc.)

Presentation: 2-3 day history of fever, c/o headache, occasional vomiting. ER admission due to changes in level of consciousness or physical mobility.

Work-up: CT, MRI, LP, pan-cultures, viral panel of CSF, blood and secretions, standard lab work-up. All repeated after a few days of admission. Regular blood cultures. All results unremarkable. WBC's normal, CRP mildly elevated in 1-2 patients, CT and MRI normal, spinal fluid clear, cell count, protein, glucose results normal. All cultures and panels persistently negative.

Treatment: Broad-spectrum antibiotics and antivirals including max doses of vancomycin, ampicillin and acyclovir.

Course of stay: Progressive decline in neurological status. Most recent presenting patient deteriorated from oriented and physically appropriate to a GSC score of 6 within 8 hours. Seizures in the first 2 presenting patients. Loss of ability to maintain airway. Intubated for currently 2 weeks and 4 weeks respectively.

We are all at a loss. Does anyone have any insight?


244 Posts

First thing that came to mind was guillain barre, but has protein in csf. It's mysterious!

Specializes in Pediatrics, Emergency, Trauma. Has 18 years experience.

Viral...maybe paraflu or influenza A??

umcRN, BSN, RN

867 Posts

Has 4 years experience.
Viral...maybe paraflu or influenza A??

That would show up on a resp PCR though, I'm assuming with all the other tests that this was done as well...?

Sun0408, ASN, RN

1,761 Posts

Specializes in Trauma Surgical ICU. Has 4 years experience.

Is ID on the case, we had a gentlemen not too long ago present very similar. He had a rare form of herpes encephalopathy.

Medscape: Medscape Access

Specializes in NICU, ICU, PICU, Academia. Has 46 years experience.

Heavy metal screen done? The fever might be a red herring.

Double-Helix, BSN, RN

1 Article; 3,377 Posts

Specializes in PICU, Sedation/Radiology, PACU. Has 12 years experience.

Influenza and respiratory PCR was definitely done, and negative. GBS would have presented most likely with ascending paralysis, not changes in cognition, and would have caused paralysis of the respiratory muscles. These kids were intubated due to inability to maintain their own airway- i.e. increased secretions and loss of gag reflex. But are/were able to initiate their own respirations.

@Sun0408- We sent blood and CSF for HSV1 and HSV2. Came back negative. Although our neurologist did say that the symptoms did fit a herpes infection. There was also no improvement, and even decompensation despite multiple days of acyclovir. Did your patient test positive for herpes?

Heavy metal might be worth looking into, although the symptoms don't really fit your typical presentations of the major heavy metals.

Sun0408, ASN, RN

1,761 Posts

Specializes in Trauma Surgical ICU. Has 4 years experience.

The initial tests were negative, the ID doc sent samples out with several other labs that did come back positive. I don't remember the specific tests. They were not the "basic" labs for HSV. Neuro and ID worked very closely together..Despite aggressive tx, the gentlemen lost his eye sight as well. The family made him a DNR. I was off for a few days after so I don't know the outcome..

Esme12, ASN, BSN, RN

4 Articles; 20,908 Posts

Specializes in Critical Care, ED, Cath lab, CTPAC,Trauma. Has 43 years experience.

There has to be a common denominator.....My brain goes to heavy metals, insecticides, Arsenic, Cyanide.....I had a case once where a baby came to the ED really sick.....then followed by a few other kids they ended up finding out that there was cyanide is the unpasteurized apple juice/cider from a farm. The schools visited this farm other wise no connection.

Then I think ...have these children been immunized....so many people are choosing to not immunize which will lead to a resurgence of diseases we don't see anymore like tetnas. There is a rare form of tetnas caused by ear infections. I know it sounds crazy tetnas has neurological deterioration and inability to maintain airway preceded by fever/viral like symptoms and become quickly ill. They are unable to swallow and handle secretions. I've seen Tetnas once...no one knew what was wrong with this kid either....a MD from India was walking through the unit an made a comment " That patient has tetnas I see it my country"

What pets do they have? I remember there was something....a few years ago....I think it was monkey pox that was in several states because people bought these Guinea pigs or something....You didn't mention any rashes or pustules so it isn't that...but maybe something along those lines....like rabies. Any bites from any ticks, bugs, been around mice what was that out west...Hantaviruses. Mouse fever. Cats? DO they own cats? Many people aren't immunizing their pets either because they can't afford it.


125 Posts

My local area is having an enterovirus 71 public health crisis at the moment.

The symptoms sounds very familiar.

very curious about the outcome/diagnosis if one is made. Have seen a few bizarre cases where it seemed every specialty was on board and no one knew what was going on and tests came back negative. I do not want to get too specific but like in Esme's example a foreign physician diagnosed it as he had seem this many times while practicing in Asia. It is apparently a super rare disease in America or most of the western world.

KelRN215, BSN, RN

1 Article; 7,349 Posts

Specializes in Pedi. Has 16 years experience.

I've seen kids who present like this who are ultimately found to have anti-NMDA receptor encephalitis. Treatment is usually a combination of IVIG, high dose steroids and/or plasmapheresis.