[CIS PIDD] [cis-pidd] Mild neutropenia, recurrent skin infections, allergy, lymphadenopathy

[Paris, Kenneth]

Good morning,



We just confirmed a diagnosis of Shwachman-Diamond syndrome in a much younger (3 year old) patient with a similar presentation.  He had GI symptoms, chronic but mild neutropenia, and poor weight gain/failure to thrive. While not a part of the syndrome, our patient also had well documented food allergy and asthma, and that steered us in the wrong direction.   We performed all the same tests as you did, and all were normal.



Pancreatic insufficiency (which is a part of SD) is easily tested and when it was found to be abnormal, it helped make the diagnosis.  Perhaps a bone marrow biopsy is indicated for the neutropenia, and a mutation analysis for Shwachman-Diamond?



Best regards,



Ken





Kenneth Paris MD MPH

Associate Professor of Pediatrics

Program Director, A/I Fellowship Program

Co-Director, JM Center for Primary Immunodeficiencies

LSU Health Sciences Center and Children's Hospital



Phone: 504-896-9589

Fax:  504-896-9311



Mail:

Division of Allergy and Immunology

Research Building, 4th Floor

200 Henry Clay Avenue

New Orleans, LA 70118



________________________________
From: Eleonora Gambineri [eleonora.gambineri at unifi.it]
Sent: Thursday, June 27, 2013 9:02 AM
To: CIS-PIDD
Subject: [cis-pidd] Mild neutropenia, recurrent skin infections, allergy, lymphadenopathy

Dear all,

I would like your inputs on a tricky case. Please see below.

11 y/o boy  (born in 2002)
At birth he was diagnosed with patent foramen ovale and patent ductus arteriosus, not hemodynamically significant. Spontaneous closure at 20 months of age (last checked 6 years old).
Allergy: Allergic to peanuts (had 2 episodes of anaphylactic shock in 2005), milk and egg (oral allergy syndrome and abdominal pain is reported), inhalants (Dermatophagoides, Alternaria, etc). He follows a diet without milk and dairy products, eggs and nuts.
GI tract: in the early years of life he was diagnosed with gastroesophageal reflux. However the  PH-metry resulted normal. From about 2 years complains recurrent abdominal pain on a daily basis, which occur several times during the day, mainly after meals, already present upon awakening, and that can not be solved with the evacuation. Evaluated several times by the physician who has encountered gas. Alvo reported regular daily, sometimes with incomplete emptying.
Infections: at 2y/o, for the presence of chronic lateral cervical lymphadenopathy and the frequent finding of low levels of neutrophils, (ca 1500-2000/mm3). Cyclic neutropenia was ruled out. Neutrophil function test was normal. Infectious mononucleosis at 3 years of life. He has been suffering from  numerous episodes of periungual infection and skin abscesses when gets minor injuries. Two recent episodes of pneumonia with bronchospasm (8y/o) and asthma-related episodes of bronchitis. He had a tooth abscess on residual deciduous tooth (reported a delay in dental exchange) and numerous cavities.
Recent immunology w/up:
Neutrophils low-ish (1737/μL)
Igs normal (IgG2 at lower levels), total IgE 382 kU/L ,  Ab anti tet present
Lympho subsets normal/proliferation normal
NBT test normal
ANA negative
tTG and AGA negative
STAT3 sequence: wild type

Recently he underwent surgery to remove a suspected submental cyst that turned out to be an inflamed lymph node (histology report not available).
I would feel to explore a bit more on the innate immunity side.
Any suggestions?

Your inputs are highly appreciated.

Best wishes,
Ele

*******************************************************************
Eleonora Gambineri, MD
Researcher/Assistant Professor

Department of "NEUROFARBA": Section of Child's Health
University of Florence

Department of Haematology-Oncology: BMT Unit
Department of Fetal and Neonatal Medicine: Rare Diseases,
"Anna Meyer" Children's Hospital

Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662606(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
********************************************************************






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