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

Mon Jan 12 18:25:46 EST 2015

Dear Kathleen, are you able to provide the breakpoints for the LCSH on
chromosome 1?
Kind regards,
Dylan
South Australian Clinical Genetics Service

Dylan Mordaunt
Mobile: + 61 468 516 283
Email: d.a.mordaunt at gmail.com

On 13 January 2015 at 09:50, 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
> mother’s 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 “normal” (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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> Jersey in the U.S. News & World Report’s Best Hospital rankings for
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> 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.
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> 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
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> in accordance with applicable law. There are penalties under the law for
> the improper use or further disclosure of PHI. If you are not the intended
> recipient of this email or the employee or agent responsible for delivering
> the communication to the intended recipient, then you may not read, copy,
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> message. If you received this message in error, please notify us by
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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 county’s 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 Report’s Best Hospital rankings for
> 2014-15. HackensackUMC is among Healthgrades® America’s 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:
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