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

Thu May 4 01:41:07 EDT 2017

CD25def? WIP? 

Pere Soler Palacín, MD, PhD, MSc. 
Pediatric Infectious Diseases and Immunodeficiencies Unit. Hospital Universitari Vall d'Hebron. 
Vall d'Hebron Research Institute (VHIR) 
Assistant Professor. Universitat Autònoma de Barcelona (UAB) 
Director of the Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies (Barcelona) 
Pg. de la Vall d'Hebron, 119-129 
08035 Barcelona. Spain. 
Tel. 0034934893140 / Fax 0034934893039 
psoler at vhebron.net / 34660psp at comb.cat 
Web: www.upiip.com 
My ORCID 
ResearchGate: http://www.researchgate.net/profile/Pere_Soler-Palacin 
LinkedIn: www.linkedin.com/in/pere-soler-palacin 

No imprimir aquest correu ajudarà a preservar el medi ambient. 

Si vostè no és el destinatari del missatge, o l'ha rebut per error, si us plau notifiqui-ho al remitent i destrueixi el missatge amb tot el seu contingut. Està prohibida la distribució no autoritzada del contingut d'aquest missatge. 

No imprimir este correo ayudará a preservar el medio ambiente. 
Si usted no es el destinatario del mensaje, o lo ha recibido por error, notifíquelo por favor al remitente y destruya el mensaje con todo su contenido. Está prohibida la distribución no autorizada del contenido de este mensaje. 

De: "PAGID" <cis-pidd at lists.clinimmsoc.org> 
Per: "CIS-PIDD" <cis-pidd at lyris.dundee.net> 
Enviats: Dijous, 4 de Maig 2017 3:36:27 
Assumpte: [MARKETING] [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: 
2 nd 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 

--- 

You are currently subscribed to cis-pidd as: psoler at vhebron.net . 

To unsubscribe click here: http://cts.dundee.net/u?id=105507267.676f3c68caf6fac38bc87fcd59c18461&n=T&l=cis-pidd&o=4356482 

(It may be necessary to cut and paste the above URL if the line is broken) 

or send a blank email to leave-4356482-105507267.676f3c68caf6fac38bc87fcd59c18461 at lyris.dundee.net 

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4356762
or send a blank email to leave-4356762-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170504/4918915b/attachment-0001.html>