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[Kathleen E. Sullivan]

A form of LAD perhaps?

Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


On Jun 27, 2007, at 6:41 PM, Dr Joanne Smart wrote:


> Dear All,

>

> Would welcome any suggestions about the following case (currently  

> an inpatient at the Royal Children's Hospital Mebourne Australia):

>

> Essentially this is a 6 week old female infant born to  

> consanguineous Afghanistan parents who presents with presumed  

> sepsis, diarrhea, hepatosplenomegaly, exfoliating dermatitis,  

> profound eosinophillia and thrombocytopenia.

>

> This occurs in the context of a sister, Karima, who died at the age  

> of 5 months in Kentucky with a similar presentation in December  

> 2005.  This child was a term baby with an unremarkable perinatal  

> period.  She first became unwell at 4 weeks with vomiting and mild  

> diarrhoea, and was found to have an abnormal lumbar puncture result  

> (?Citrobacter meningitis from discharge summary).  She was treated  

> with 1 week of IV antibiotics with improvement, but ongoing  

> vomiting on discharge.  She was recalled back to the hospital after  

> 1-2 days for a bone marrow aspirate for an apparent blood  

> abnormality, and the parents were reassured that this “wasn’t  

> leukaemia”. She was given nyastatin, metoclopramide, ranitidine and  

> prednisolone on that occasion.

>

> She continued to have episodic vomiting at home 1-2x/day and  

> deteriorated at 6 weeks of age with increasing diarrhoea, facial  

> oedema, anuria, left focal seizures and respiratory failure. She  

> also had a dry, erythematous and exfoliating rash on presentation,  

> which was later thought to look like ichthyosis by her physicians.  

> Investigations at this stage revealed hypereosinophillia, anaemia,  

> thrombocytopenia, hyponatremia, hypocalcemia and a severe metabolic  

> acidosis. Aspergillous grew from her endotracheal tube, and skin &  

> bone marrow biopsy revealed was apparently inconclusive.  Further,  

> CT brain revealed cerebellar atrophy and bilateral subdural  

> hydromas.  Her treatment included mechanical ventilation,  

> phenobarbitone, amphotericin B and caspofungin. Eventually with no  

> improvement despite 6 weeks of mechanical ventilation we understand  

> care was tragically withdrawn. The consideration at that stage was  

> whether she could have Ommen’s, or an undefined hypereosinophllic  

> syndrome.

>

> Furthermore, there was apparently 14-16 maternal grandaunties and  

> granduncles who passed away between the ages of 4 month-2 years  

> from presentations with fever, diarrhoea and rashes. They however  

> lived in a remote village with no medical care and it is uncertain  

> how many in fact have treatment such as antimicrobials available.

>

> Zohra herself was a term baby who was initially well until day 7 of  

> life, when she presented with fevers, irritability, poor feeding  

> and vomiting. Her inflammatory markers were raised (CRP 105, WCC  

> 17, neutrophils 12) and her platelet count dropped to 70 on day 5  

> of admission, but resolved to 188 on discharge.  Lumbar puncture  

> was attempted but unsuccessful. Stool cultures were negative. In  

> total she received 6 days of IV flucloxacillin and gentamicin, and  

> 3 days of IV ceftraixone.

> She then was readmitted at 3 weeks, when she re-presented with  

> fevers, rash and irritability, with no improvement having been  

> treated with oral amoxicillin by her local doctor for 2 days.  Her  

> CSF at that stage revealed 10 polymorphs, 810 red blood cells and  

> her CRP was elevated at 79. Cultures of the CSF, urine and blood  

> were negative, and she received 4 days of IV cefotaxime, penicillin  

> and gentamicin before being discharged.

>

> She re-presented at the age of 4 weeks with vomiting and diarrhea,  

> but this time without fevers.  No investigations were performed and  

> she was treated for a presumed gastroenteritis with nasogastic  

> rehydration. She was then transferred to Royal Children’s Hospital  

> Neonatal Unit for ongoing weight loss.  She had an initial severe  

> metabolic acidosis (pH 7.09, HCO3- 3, base excess -24; anion gap  

> 19; lactate 1.6 normal) and received fluid resuscitation and  

> commencement of IV antibiotics.  As an inpatient she progressively  

> became unwell with development of an exfoliating dermatitis and  

> temperature instability.

> Her investigations to date reveals:

> Full blood count

> Normocytic anaemia (Hb 85-100g/L) – presumably partly contributed  

> by multiple blood tests taken and haemodilution from fluid  

> resuscitation

> Leucocytosis (WCC 33-50x109/L) with fluctuating neutrophillia  

> (8-12x109/L), high band count (3.2-7x109/L) and normal lymphocyte  

> counts (7-8x109/L)

> Profound eosinophillia (15-20x109/L)

> Progressive thrombocytopenia (from 500 to 51x109/L)

> Biochemistry

> Progressive hyponatremia (142mmol/L on presentation, dropped to  

> 124mmol/L) and hypokalemia (3mmol/L)

> She was also hypocalcemic (1.75mmol/L) , hypomagnesemic (0.54mmol/ 

> L) hypophosphatemic (0.65mmol/L) and hypoabluminaemic (16g/L)

> Liver function and renal function essentially normal

> Raised stool and renal electrolytes, raising the question of  

> possible renal tubular acidosis

> Cultures

> CSF – negative culture (0 polymorphs, 1 lymphocyte, 0 erythrocytes)

> Urine – negative culture

> Stool – negative culture

> Immune function

> Antibodies

> IgG 4.28 g/L

> IgA <0.07 g/L

> IgM 0.24 g/L

> Lymphocyte markers

> Normal on 2 occasions

> 18/6/07 – Lymphocyte count (4.39x109/L), CD3 74%, CD4 63%, CD8 13%,  

> CD19 24% and NK cells 3%

> 19/6/07 – Lymphocyte count (6.8x109/L), CD3 77%, CD4 66%, CD8 12%,  

> CD19 18% and NK cells 3%.

> Lymphocyte proliferation to PHA

> Done on 2 occasions

> 18/6/07 – 15,986 to 50,657 (Control 39 to 57,241)

> 19/6/07 – 7,595 to 17,291 (Control 17 to 56,281)

> Neutrophil oxidative burst – normal

> Pending – Variable Number Tandem Repeats (VNTR) and HLA typing of  

> Zohra and her parents.

> Other

> Bone marrow aspirate – normal apart from non-diagnostic high  

> eosinophills

> Urine aminoacids - normal

> Imaging

> Abdominal US – no organomegaly

> Cranial ultrasound – bilateral grade 1 supependymal haemorrhages

>

>  Currently she is being managed with total parental nutrition and  

> IV meropenem and vancomycin.  She has been visited by multiple  

> teams including rheumatology, infectious diseases, metabolic  

> physicians, nephrology and gastroenterology.  She is scheduled to  

> have a liver, skin and muscle biopsy soon.

>

>

>

> Zohra’s lymphocyte proliferation whilst not normally is not  

> profoundly depressed as you would expect in a child with SCID.   

> Lack of B cells make Ommen’s syndrome unlikely.  We are considering  

> the posibilites of maternally engrafted T cells with resultant  

> graft-versus-host disease and are currnetly awaiting results of  

> VNTR’s and HLA typing (which will also help rule out bare  

> lymphocyte syndrome).

>

>

>

>

>

>

>

> At 12:03 AM 28/06/2007, you wrote:

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>

> Dr Joanne Smart

> BSc MBBS PhD FRACP

> Clinical Immunologist

> Department of Immunology

> Royal Children's Hospital

> Flemington Rd, Parkville

> VICTORIA, AUSTRALIA 3052

> PH: 61 3 9345 5733

> FAX: 61 3 9345 5764

> email: joanne.smart at rch.org.au


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