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[Sergio Rosenzweig]

Joanne,
  I would evaluate Netherton syndrome. Hair examination under light microscopy (trichorrhexis invaginata) would help on the diagnosis.
  Good luck with this difficult case,
  Sergio
   
  Sergio D. Rosenzweig, MD, PhD
  Servicio de Inmunologia
  Hospital Nacional de Pediatria "J. P. Garrahan"
  Buenos Aires, Argentina
  srosenzweig at garrahan.gov.ar

Dr Joanne Smart <joanne.smart at rch.org.au> 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 Eventually with no improvement despite 6 weeks of mechanical ventilation we understand care was tragically withdrawn.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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