[CIS PIDD] [cis-pidd] Mowat Wilson syndrome with fevers and lymphoproliferation

Sat Jul 25 11:09:17 EDT 2015

I have a patient who became hypogammaglobulinemic (only, no major
lymphocyte abnormalities) following Keppra treatment (³proven" by
re-exposure after hypogamma got better upon terminating the drug, but
neurology got worse).
We considered her stabile neurology more important and started IgG
replacement.
Best, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Am 24/07/15 04:45 schrieb "Raje, Nikita," unter <nraje at cmh.edu>:

>Do you think it may be worth switching/ stopping trihexyphenidyl?
>
>Sent from my iPhone
>
>> On Jul 23, 2015, at 9:29 PM, Raje, Nikita, <nraje at cmh.edu> wrote:
>>
>> He has been on Keppra for seizures since 2010 and trihexyphenidyl for
>>spasticity since September 2014. Rest of his medications include:
>> Diazepam prn
>> Zinc supplement
>> SCIG
>>
>> He had Augmentin/ Azithromycin for sinus infections in early 2015 but
>>none since.
>> His eosinophil count has always been pretty low (absolute count mostly
>>0 but ranged from 0-70 over last 5 year)
>>
>> Thanks for the input,
>> Nikita
>> ________________________________
>> From: Risma, Kimberly [Kimberly.Risma at cchmc.org]
>> Sent: Thursday, July 23, 2015 6:51 PM
>> To: CIS-PIDD
>> Subject: Re: [cis-pidd] Mowat Wilson syndrome with fevers and
>>lymphoproliferation
>>
>> Any chance this was triggered by a drug? Seen a few cases of DRESS
>>syndrome evolving into secondary HLH- like disease. Offending drug  can
>>be 2-6 weeks before symptoms... Neuroleptic such as lamictal, tegretol,
>>etc or antibiotics can cause it.
>>
>> Kim Risma MD PhD
>> Cincinnati Children's Hospital
>>
>> Sent from my iPhone
>>
>> On Jul 23, 2015, at 5:59 PM, Raje, Nikita,
>><nraje at cmh.edu<mailto:nraje at cmh.edu>> wrote:
>>
>>
>> Dear all,
>>
>>
>>
>> I would like to ask for your opinion on a 7yo boy with
>>
>>
>>
>> -Mowat Wilson Syndrome with developmental delay, microcephaly, epilepsy
>>
>> -total aganglionic Hirschruprings s/p colectomy and ileostomy and G
>>tube,
>>
>> -hypogammaglobulinemia on Ig replacement with T cell lymphopenia and
>>reduced function ( On PJP Px),
>>
>> -diffuse supraclavicular, mediastinal, retroperitoneal and pelvic
>>lymphadenopathy beginning in March of this year
>>
>> - fevers, splenomegaly, hepatomegaly, and elevated transaminases - June
>>this year.
>> (also treated for otitis media, Rhinovirus/ Enterovirus in June)
>>
>> Now has persistent fevers and mild rash on the right cheek since
>>mid-July.
>>
>>
>>
>> Labs include a nadir of his WBC to 2.98, lymphopenia (ALC of 620 least:
>>100), anemia to 9.2, ESR 131 (increasing),
>>
>> Low total T cells (Absolute counts: 290 CD3, 231 CD4, 38 CD8, 100 Naïve
>>T helper, 54 Naïve T suppressor, 3: class switched memory B cells),
>>
>> Lymphocyte proliferation to PHA and absent to candida. Normal response
>>to PWM
>>
>> Normal NK function,
>>
>> Mild transaminitis,
>>
>> Elevated fibrinogen and sIL2R with normal ferritin and triglycerides
>>
>> IgA<7, IgM 26, IgE <2, IgG normal on replacement (141 prior)
>>
>> Coomb¹s positive, C3 188 (high), C4 normal, ANA negative, ENA panel
>>negative
>>
>> ANA, Quantiferon gold, fungal culture, galactomannan, HIV, Hepatitis C,
>>B, Parvovirus, EBV and CMV PCR are negative.
>>
>> Tularemia and Histoplasma studies are pending.
>>
>> Cervical LN biopsy showed reactive lymphoid hyperplasia with sinus
>>histiocytosis, negative for malignancy
>>
>> ALPS screen: negative,
>>
>> Targetted gene sequencing showed heterozygous variant of unknown
>>significance in NHEJ1 and STIM1 (Further sequencing pending, del/
>>duplication for NHEJ1 pending).
>>
>>
>>
>> PAST MEDICAL HISTORY:
>>
>> Mowat Wilson syndrome
>>
>> History of nummular eczema
>>
>> Chronic rhinitis/sinusitis
>>
>> Tympanostomy tubes
>>
>> Undescended testicle s/p orchiopexy 2014
>>
>>
>>
>> Family/ Social history: Sister has oculocutaneous albinism but no
>>immune problems.  They have a pet rabbit.
>>
>>
>> He is scheduled to have repeat cervical lymph node biopsy and bone
>>marrow biopsy. NK perforin/ granzyme and cytotoxicity assay are pending.
>>
>> I will appreciate any input on further work up and management.
>> Many thanks for your time and input,
>> Nikita
>>
>> Nikita Raje, MD
>> Assistant Professor of Internal Medicine and Pediatrics
>> University of Missouri-Kansas City, Kansas City, MO
>> Division of Allergy/Asthma/Immunology
>> Children's Mercy Hospital
>> Truman Medical Center
>> Voice: 816-960-8885
>> Fax: 816-960-8888
>>
>>
>> ________________________________
>> Electronic mail from Children's Mercy Kansas City. This communication
>>is intended only for the use of the addressee. It may contain
>>information that is privileged or confidential under applicable law. If
>>you are not the intended recipient or the agent of the recipient, you
>>are hereby notified that any dissemination, copy or disclosure of this
>>communication is strictly prohibited. If you have received this
>>communication in error, please immediately forward the message to the
>>Children's Mercy Information Security Officer via return electronic mail
>>at 
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>>edu> and expunge this communication without making any copies. Thank you
>>for your cooperation.
>>
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