[PAGID] very sick baby in Australia

[Conley, Mary-Ellen]

Hi Serigio,
Why don't you remind us of the most important features of Netherton
syndrome and tell us why you think that it might be the diagnosis in
this baby.  
A gentle reminder to all: 1) sign with your full name, your institution
and your city so we know who you are; 2) remember to change the subject
title to fit your topic.  thanks
Mary Ellen
 





Mary Ellen Conley, MD 
Department of Immunology 
St. Jude Children's Research Hospital 
332 N. Lauderdale 
Memphis, TN 38105-2794 
FAX  901-495-3977 
TEL  901-495-2576 

 


________________________________

	From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Sergio
Rosenzweig
	Sent: Wednesday, June 27, 2007 7:40 PM
	To: pagid at list.clinimmsoc.org
	Subject: Re: [PAGID] Welcome to the "PAGID" mailing list
	
	
	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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