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Dear Dr. Smart,

Although this might have been addressed already, one could consider 
inherited zinc deficiency (e.g. acrodermatitis enteropathica) or other 
micronutrient deficiency, which can present with exfoliative dermatitis, 
diarrhea and immune dysfunction, leading to infection. Good luck and please 
keep us posted on her progress.

Regards,

Jason 

On Jun 27 2007, 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: Welcome to the 

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> your options page that will email your current password to you.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

>

>


-- 


Jason P. Raasch, MD

Fellow, Allergy and Immunology
Deptarment of Pulmonology, Allergy
  and Critical Care Medicine
University of Minnesota

MMC 434
420 Delaware St SE
Minneapolis, MN  55455

Office: 612.624.0133
raas0027 at umn.edu