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

[Risma, Kimberly]

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)

Coomb’s 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


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