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

Wed May 3 22:01:55 EDT 2017

If wasn't the infections I would say nlrc4

Sent from my iPhone

> On 3 May 2017, at 22:36, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> 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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