[CIS PIDD] [cis-pidd] Complex patient with fevers and ?inflammatory brain disease

[CIS-PIDD]

Dear colleagues,


We have a developmentally appropriate, active, and well-grown 14 year old young man with a very complex history, including:

Transposition of the Great Arteries repaired in infancy

Necrotizing enterocolitis in infancy resulting in bowel resection and short gut

Prothrombin gene mutation and history of thrombosis

Recurrent acute otitis requiring myringotomy

Osteomyelitis

Hepatosplenomegaly NYD, splenic nodules (biopsy nonspecific)

Non-infectious fevers not following a specific pattern, not associated with any symptoms other than chills

Chronic iron deficiency anemia, normal bone marrow

Chronic bloody diarrhea, scope indeterminate

Pneumonia x2

Viral or aseptic meningitis x1 Dec. 2016, with reportedly normal brain MRI

ADHD

Chronic sinusitis

Seasonal allergies


Testing to date:

Negative HIV, ANA, ANCA, RF, TTG, fecal calprotectin

Negative metabolic workup

Lymphopenia - preserved CD4:8, total CD3 390x10^6, CD4 240, CD8 130

Persistently levated IgG (17.6), normal IgA and IgM

Persistently elevated CRP

EBV serology positive for past infection

Normal specific antibody production

CGD test negative

IgE normal

Chromosomal microarray and WES negative


Parents are non-consanguineous and there is no contributory family history.


He most recently presented with 5 days of fever with increasing abdominal pain, followed by severe lower GI bleed.  This stabilized with transfusion, fluid resuscitation, pantoprazole and bowel rest, but he then developed severe headache, neck stiffness, and photophobia.  This is similar to his presentation last December with meningismus where no infectious etiology was identified. This episode, an initial LP showed increased opening pressure of 44, RBC 22, White cell count 132 (73% neutrophils, 17% lymphocytes, 11% monocytes) with normal glucose and protein 0.63 (elevated).  PCRs for HSV/VZV negative, enterovirus negative, culture negative, fungus and cryptococcus negative.  JC/BK virus PCR pending.  Lyme serology is pending as he was camping this summer.


MRI brain was done, reportedly showing abnormal FLAIR signal in the globus pallidus bilaterally, partially extending into the deep white matter of the periventricular region in the frontal parietal lobes. There are also foci of abnormal FLAIR signal also noted in the subcortical white matter in the left frontal lobe [sequence 4 image 11, 8 and 7]. No other abnormal signal is seen the brain. There is no evidence of restricted diffusion or abnormal magnetic susceptibility. Ventricular size and CSF spaces appear normal. No shift of the midline or parenchymal herniation is seen. The MRV study demonstrate hypoplastic left transverse sinus. Venous sinuses are patent.


Due to ongoing headache requiring hydromorphone, a second LP was done which showed normal opening pressure, RBC 12, WBC 806 (similar distribution as previous), glucose normal, protein elevated at 1.47.  We are awaiting the repeat infectious workup.


He is on meropenem, metronidazole, and acetazolamide.  He is no longer febrile and is clinically stable.  Headache is ongoing and is his most debilitating symptom.


We would very much appreciate any advice regarding further workup and possible management strategies.


Thank you,


Rae Brager

Rae Brager, BSc MD FRCPC
Assistant Clinical Professor
Staff Physician
Pediatric Immunology and Allergy
McMaster Children’s Hospital  (McMaster University Medical Center)
Hamilton, Ontario, Canada




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