Infant, 4 weeks in ICU, still no answers.

[Fustrated_Dad]

My six month old baby girl has been in ICU for 4 weeks without a diagnosis.

HISTORY - She has been on high dose steroids (3mg/kg prednisone) for about 4 months due to hemangiomas in her airway. Had a surgical resection at 2 mo old, then resumed steroids when symptoms reappeared. Airway is currently stable.

SYMPTOMS - Began having diarrhea which became progressively worse and was eventually accompanied by intermittent vomiting. We took her to our local Childrens' Hospital where she has received all her treatment, since she could not miss her steroids.

She was treated for severe dehydration and electrolyte imbalance and was stabilized. She was experiencing severe abdominal pain as the diarrhea and vomiting persisted. Countless blood tests, Urine analysis, stool samples, ect... gave no answer. During the next 10 days many new, serious problems presented; she became anemic, low platelet issues, bloody stool and urine, loosing protein and glucose in her urine (Fanconi syndrome.) These symptoms have all been stabalized, but we are left with our original problem.

CURRENTLY - She continues to have constant diarrhea despite not being fed (secretory diarrhea), is unable to hold anything down, has severe abdominal pain, has intermitent fevers, and a heart rate between 160-210.

We've seen dozens of doctors, the full array of specialists, and still no answers. A few days ago she had an upper and lower endoscopy which showed her intestines had severe edema, and blunted villi.

Can you help?...

[Fustrated_Dad]

After 2 months and transferring to UCSF we have our diagnosis. I am letting you know in case you ever come across this rare disease, you might diagnose is sooner which could save lives. She has Hemophagocytic Lymphohistiocytosis. (HLH). It's hem/onc related,and presents with: prolonged fever (above 38), enlarged liver/spleen, cytopenia (2 or more lineages), low fibrinogen, elevated feritin levels, low NK cell activity, and hemophagocytosis. There also may be a rash and CNS involvement. It is invariably fatal if untreated. Thank you.

[Kevin Pho, MD]

I am not a pediatric gastroenterologist, so my insight may be limited.

The workup that you have described is pretty complete, with the upper and lower endoscopy being a very comprehensive look at the GI tract.  

Testing the stool for malabsorption can be done.  I would also consider testing for celiac disease as well.  

Inflammatory bowel disease, infection, colitis, or enteritis needs to be ruled out.  Obtaining another pediatric GI opinion can be considered in this difficult case.

Followup with your personal physician is essential.

This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.

Kevin, M.D.
www.kevinmd.com