[CIS PIDD] [cis-pidd] Infant with severe diarrhea and pseudomonas infection

Tue Jan 13 08:25:00 EST 2015

You got it! 
Sergio
PS: Regarding Pere's comment on scissors YES/NO, it depends on what are
you looking for at the hair: if your interest is pigment distribution
(e.g., CHS, GS 1, 2 and 3; other forms of albinism), polarized light
difraction (e.g., trichothiodystrophy, some cases of trichoenteropathic
syndrome) or hair shaft structural abnormalities (e.g., Netherton, CHH),
"scissors" are more than OK. On the other hand, if you are interested on
pigment distribution on melanocytes/keratynocyytes (e.g., GS), a skin
biopsy is needed. Hair bulbs could also be used as a good source of gDNA.
Bottom line: a "scissors" approach is usually OK for most of our questions.

On 1/12/15 8:46 PM, "Haines, Kathleen M.D." <KHaines at HackensackUMC.org>
wrote:

>No hair yet!  Will look.  I'll have to start carrying scissors like you
>do!
>
>Kathleen A. Haines, M.D.
>Pediatric Rheumatology & Immunology
>HackensackUMC
>
>Sent from my iPad
>
>
>> On Jan 12, 2015, at 6:23 PM, Rosenzweig, Sergio (NIH/CC/DLM) [E]
>><srosenzweig at cc.nih.gov> wrote:
>>
>> Funny hair? (thinking on Trichohepatoenteric syndrome)
>> Sergio
>>
>> Sergio D. Rosenzweig, MD, PhD
>> NIH
>> srosenzweig at cc.nih.gov<mailto:srosenzweig at cc.nih.gov>
>>
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>>
>> From: <Haines>, "Kathleen M.D."
>><KHaines at HackensackUMC.org<mailto:KHaines at HackensackUMC.org>>
>> Reply-To: CIS-PIDD
>><cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
>> Date: Monday, January 12, 2015 6:16 PM
>> To: CIS-PIDD 
>><cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
>> Subject: Re: [cis-pidd] Infant with severe diarrhea and pseudomonas
>>infection
>>
>> CGD was done and normal.  T regs (Mayo) were normal.
>>
>> Kathleen A. Haines, M.D.
>> Pediatric Rheumatology & Immunology
>> HackensackUMC
>>
>> Sent from my iPad
>>
>>
>> On Jan 12, 2015, at 4:29 PM, Boyce, Thomas G., M.D.
>><Boyce.Thomas at mayo.edu<mailto:Boyce.Thomas at mayo.edu>> wrote:
>>
>> Needs flow for CGD testing
>>
>> From: Haines, Kathleen M.D. [mailto:KHaines at HackensackUMC.org]
>> Sent: Monday, January 12, 2015 2:55 PM
>> To: CIS-PIDD
>> Subject: [cis-pidd] Infant with severe diarrhea and pseudomonas
>>infection
>>
>> I would be grateful for some direction as to where to go with this
>>infant, who presented at 6 weeks of age with severe diarrhea,
>>pseudomonas at 3 sites and thrombophilia .    Any suggestions for
>>further analysis would be helpful, particularly if you add where they
>>could be obtained.  The insurance is poor.
>>
>> The patient is now 4 mos of age.  He was born to non-consanguinous
>>parents of an uncomplicated pregnancy by C-section as this was the third
>>repeat C-section.  He had no in-hospital complications; he was fed by
>>breast milk.  Newborn screen, including TRECs, was normal.  At
>>approximately 6 weeks of age his mother noted some blood streaks in the
>>stool and his stooling increased in frequency.  He became irritable and
>>was sent to the emergency service where he was noted to have a scaly
>>rash and be severely dehydrated with a temperature of 102.  He was
>>admitted for rehydration and evaluation for infection.
>> Multiple consults to evaluate initial elevated WBC, elevated
>>creatinine, hyperkalemia, skin rash, diarrhea were obtained with the
>>following opinions:  stressed marrow due to severe dehydration, kidney
>>injury due to severe dehydration, CAH negative, skin rash was
>>non-specific xerosis.  Gastroenterology gave  an extensive differential
>>diagnosis but no specific etiology was noted for diarrhea.
>> Approximately one week into his hospitalization he was noted to have an
>>external otitis which cultured positive for Pseudomonas which provoked
>>an Immunology consultation.  History was notable for a death at age 2 of
>>his mother¹s sister  (maternal aunt) possibly due to meningitis.  His
>>father brother (paternal uncle) died at age one of unknown cause.  Both
>>of these deaths occurred in South America.
>> He progressed to have a neck mass.  On CT imaging a jugular vein
>>thrombosis as well as a sub-mandibular abscess was seen.  This was due
>>to Pseudomonas and required drainage.  A Broviac catheter was placed and
>>the subcutaneous track became infected, also with Pseudomonas.   The
>>broviac was removed and a line inserted in the groin.  This immediately
>>became partially thrombosed but did not become infected and did not have
>>to be pulled.  He was (and is) treated with low-molecular weight heparin.
>> Immunology workup so far normal as follows:  CBC  WBC initially
>>>50,000 but decreased and remained at 15 to 10 K, ANC 4K to 8K, ALC 2K
>>>to 6K, platelets 280 to 600K, normal size
>> Repeat TREC (Mayo) normal
>> CD3--4847
>> CD4  3794
>> CD8--984
>> CD56--140
>> CD19‹2037
>> CD20‹29%
>> CD4+CD45RA+75%, CD4+CD45RO+25%
>> FISH for maternal cells  100% XY
>> Mitogens to  PHA, PWM ³normal² (Mayo)
>> CD18 normal
>> CH50 - normal
>> TLR (ARUP)  - normal cytokine production to 6  ligands
>> Wiscott Aldrich normal
>> Normal IgG and M (drawn to determine if he needed Ig replacement of
>>maternal Abs due to severe enteropathy)
>> Microarray showed no clinically significant copy #s but a long stretch
>>of homozygosity at Chromosome 1.
>> Thrombophilia evaluation was non revealing.
>>
>> He was discharged mid-December and I saw him Dec. 30.  He looked well
>>and was gaining weight on an elemental formula, although
>>gastroenterology feels his weight  gain could be more robust.
>>
>>
>> Kathleen A. Haines, MD
>> Section Chief, Pediatric Immunology
>> Section of Pediatric Rheumatology and Immunology
>> Joseph M. Sanzari Children's Hospital
>> HackensackUMC
>> 30 Prospect Ave.
>> Hackensack, NJ  07601
>>
>> Tel:  551-996-5306
>> Fax: 201-996-9815
>> email:  khaines at hackensackUMC.org<mailto:khaines at hackensackUMC.org>
>>
>> 
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>>Center HackensackUMC, a nonprofit teaching and research hospital located
>>in Bergen County, NJ, is the largest provider of inpatient and
>>outpatient services in the state. Founded in 1888 as the county¹s first
>>hospital, it is the flagship hospital of Hackensack University Health
>>Network, one of the largest health networks in the state comprised of
>>1,250 beds, nearly 10,000 employees and 2,700 credentialed physicians.
>>HackensackUMC was listed as the number one hospital in New Jersey in the
>>U.S. News & World Report¹s Best Hospital rankings for 2014-15.
>>HackensackUMC is among Healthgrades® America¹s Best 100 Hospitals in
>>five different areas, is one of Healthgrades America's 50 Best
>>Hospitals for eight years in a row, and received the Healthgrades
>>Distinguished Hospital Award for Clinical Excellence 12 years in a row.
>>The medical center has also been named a Leapfrog Top Hospital, and
>>received 23 Gold Seals of Approval by the Joint Commission  more than
>>any other hospital in the country. It was the first hospital in New
>>Jersey and second in the nation to become a Magnet® recognized hospital
>>for nursing excellence; receiving its fifth consecutive designation in
>>2014. HackensackUMC is the Hometown Hospital of the New York Giants and
>>the New York Red Bulls and was Official Medical Services Provider to The
>>Barclays PGA Golf Tournament and the NY/NJ Super Bowl XLV111 Host
>>Committee. It remains committed to its community through fundraising and
>>community events. To learn more, visit:
>>www.HackensackUMC.org<http://www.HackensackUMC.org>.
>>
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>>************************************ About Hackensack University Medical
>>Center HackensackUMC, a nonprofit teaching and research hospital located
>>in Bergen County, NJ, is the largest provider of inpatient and
>>outpatient services in the state. Founded in 1888 as the county¹s first
>>hospital, it is the flagship hospital of Hackensack University Health
>>Network, one of the largest health networks in the state comprised of
>>1,250 beds, nearly 10,000 employees and 2,700 credentialed physicians.
>>HackensackUMC was listed as the number one hospital in New Jersey in the
>>U.S. News & World Report¹s Best Hospital rankings for 2014-15.
>>HackensackUMC is among Healthgrades® America¹s Best 100 Hospitals in
>>five different areas, is one of Healthgrades America's 50 Best
>>Hospitals for eight years in a row, and received the Healthgrades
>>Distinguished Hospital Award for Clinical Excellence 12 years in a row.
>>The medical center has also been named a Leapfrog Top Hospital, and
>>received 23 Gold Seals of Approval by the Joint Commission  more than
>>any other hospital in the country. It was the first hospital in New
>>Jersey and second in the nation to become a Magnet® recognized hospital
>>for nursing excellence; receiving its fifth consecutive designation in
>>2014. HackensackUMC is the Hometown Hospital of the New York Giants and
>>the New York Red Bulls and was Official Medical Services Provider to The
>>Barclays PGA Golf Tournament and the NY/NJ Super Bowl XLV111 Host
>>Committee. It remains committed to its community through fundraising and
>>community events. To learn more, visit: www.HackensackUMC.org.
>>
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>*********************************** About Hackensack University Medical
>Center HackensackUMC, a nonprofit teaching and research hospital located
>in Bergen County, NJ, is the largest provider of inpatient and outpatient
>services in the state. Founded in 1888 as the county¹s first hospital, it
>is the flagship hospital of Hackensack University Health Network, one of
>the largest health networks in the state comprised of 1,250 beds, nearly
>10,000 employees and 2,700 credentialed physicians. HackensackUMC was
>listed as the number one hospital in New Jersey in the U.S. News & World
>Report¹s Best Hospital rankings for 2014-15. HackensackUMC is among
>Healthgrades® America¹s Best 100 Hospitals in five different areas, is
>one of Healthgrades America's 50 Best Hospitals for eight years in a
>row, and received the Healthgrades Distinguished Hospital Award for
>Clinical Excellence 12 years in a row. The medical center has also been
>named a Leapfrog Top Hospital, and received 23 Gold Seals of Approval by
>the Joint Commission  more than any other hospital in the country. It
>was the first hospital in New Jersey and second in the nation to become a
>Magnet® recognized hospital for nursing excellence; receiving its fifth
>consecutive designation in 2014. HackensackUMC is the Hometown Hospital
>of the New York Giants and the New York Red Bulls and was Official
>Medical Services Provider to The Barclays PGA Golf Tournament and the
>NY/NJ Super Bowl XLV111 Host Committee. It remains committed to its
>community through fundraising and community events. To learn more, visit:
>www.HackensackUMC.org.
>
>
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>The CIS-PIDD listserv is supported by the Clinical Immunology Society
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