[CIS PIDD] [cis-pidd] 4 mo F with erosive dermatitis, recurrent infections and multiple organ lesions

Thu May 4 10:03:53 EDT 2017

Hi Abigail,

This sounds like a challenging case and sick child.  Hopefully your WES will be revealing.  Some thoughts on additional phenotyping/flow now that might provide some insight sooner in this child with severe infection, normal T cell counts, and hypergam would be IPEX-like syndrome such as CD25 deficiency, and also LAD type I.

With the lymphoproliferation, skin lesions, bone lesions I would also think about autoinflammatory diseases such as DIRA and NLRP3-associated disorder, although seems less likely with the documented infections, if the patient was really sick consideration for anakinra could be given since it has a relatively short half-life - but it seems as if you could likely wait for WES for that.

Best,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at wustl.edu<https://mail.wusm-pcf.wustl.edu/OWA/redir.aspx?C=BC4WUCQ_fUuap3pEPFb6hfMraGtH9tAIF1A5pvmTpRaRGtpUFcRGINZ4Nh0wtslF5e-0KwrezPc.&URL=mailto%3aCooper_m%40kids.wustl.edu>
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From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> on behalf of CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Sent: Wednesday, May 3, 2017 8:36 PM
To: CIS-PIDD
Subject: [cis-pidd] 4 mo F with erosive dermatitis, recurrent infections and multiple organ lesions

Dear CIS members,

We are interested in any suggestions regarding diagnosis or further investigation on this 4 month old girl.

BACKGROUND:
2nd child to Nepalese, non-consaguineous parents. Older sibling (12 y/o) - well.
Antenatally monitored for foetal growth and abnormal choroid plexus on US but uneventful perinatal course.

HOPC:
Cutaneous:
-        Seborrhoeic dermatitis since 3/52 with eczematous appearance to body and deep perianal ulcer.
o   Abdominal skin biopsy: immunofluorescence screen negative, acanthosis with perivascular and interstitial inflammation.
o   Scalp biopsy consistent with leukocytoclastic vasculitis.
-        Initial improvement  to eczematous rash with topical emollients/steroids.
-        Now developing several necrotic/ulcer type lesions to scalp, eye & vulva. Worsening purpuric rash in last 5 days with poor skin integrity and healing. Biopsy: spongiotic dermatitis with perivascular inflammation. Negative acid fast bacilli.
GI:
-        Recurrent diarrhoea since 4/52. Initial presentation with severe metabolic acidosis, diagnosed with presumed cow's milk allergy & commenced on Neocate with bloody diarrhoea on accidental CM re-exposure. While some initial improvement on elemental formula, she had continued to have loose bowel actions.
-        Failure to thrive
-        Previous hepatitis & hepatomegaly - now resolved. Normal spleen on ultrasound.
Haem:
-        Normocytic anaemia (60-70 g/L) - requiring 1x RBC transfusion. Teardrops on bloodfilm.
-        Thrombocytopenia (60-110)
-        Appropriate leucocytosis and neutrophilia with infections with normalisation between infections.
Infections:
-        CMV PCR positive on initial presentation. Negative on newborn screening test.
-        4 x UTIs (enterococci) - responsive to oral antibiotics. MCUG & renal USS normal.
-        Chronic recurrent oral thrush - responsive to Nilstat, recurs on cessation
-        Recurrent skin infections with MSSA on swab
-        Perianal ulcerative lesion - pseudomonas growth on swab
-        Right orbital cellulitis (adenovirus on eye swab, negative bacterial culture). Associated otitis media and perforated tympanic membrane. Fluid MCS - S. Aureus & candida
Most recent developments include:
-        Incidental right upper lobe abscess found on MRI (clinically asymptomatic) - awaiting further investigation.
-        Bone scan: metabolically active process involving the left tibia & possibly right mid femur. ? Inflammatory lesions. Subtle asymmetry of activity at the left posterior ilium is less specific

Investigations to date:
*       CMV: PCR positive in urine, CMV quantitative: 17,600 copies/mL (performed initial presentation - due to be repeated), Guthrie blood spot CMV negative, Eye Review (5/4): Nil evidence of CMV retinitis, Audiology: pending
*       Cranial USS: mineralising leukostriate vasculopathy
*       MRI brain: Focus of susceptibility in relation to the right choroid plexus could be representative of any calcification.  A haemorrhagic change is not completely excluded.  No evidence of cerebral vasculitis.  Incidental note of a focus of consolidation in the right upper lobe associated with abscess/pneumatocele.
*       Ferritin: 209 -> 285
*       Autoimmune screen- normal (ANA, ENA, ds DNA). ANCA pending
*       Metabolic/Endo: Normal ketones, insulin, glucose, cortisone, ammonia, amino acids, GH.  Mildly low fatty acids (but normal glucose at the time)
*       Gastro: Raised faecal calprotectin 1806. Rectosigmoidoscopy- macroscopically normal. CMV negative.  Hepatomegaly on ultrasound in early April but LFTs  now normalised, spleen normal on US
*       Immunology:
-       Total IgE elevated 887
-      Normal neutrophil function
-      Normal absolute lymphocyte numbers with increase of proportions of CD4+ and CD8+ memory T cells. Normal TREC numbers. Normal lymphocyte proliferation
-      IgG 11.55 (H 2.28-6.22), IgA 1.28 (H 0.15-0.64), IgM 0.77 (N)
-      Normal CH50, Normal C3/C4
*       Negative ANA, ENA, dsDNA
*       Hair sample - not consistent with Netherton's.
*       Bone marrow aspirate:  normal
*       Genetics: microarray and WES pending (will take ~ 3 weeks)

Looking forward to hearing your thoughts.

Thanks,

Abigail Cheung
Paediatric Allergist & Immunology
Department of Allergy and Immunology
Women's & Children's Hospital
Adelaide, Australia

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