[CIS PIDD] 4 mo F with erosive dermatitis, recurrent infections and multiple organ lesions - inflammatory/PID?

[Abigail Cheung]

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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