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

[CIS-PIDD]

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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