[CIS PIDD] [CIS-PAGID] 8 year old girl with mitochondrial disorder and severe infections

[Mark Ballow]

Interesting discussion. However, need a consensus on the diagnosis of
mitochondrial disorder - lab tests, muscle biopsy, etc - not just based on
symptoms.I have a feeling that the diagnosis is made differently at various
institutions.

Mark Ballow
SUNY Buffalo

On Tue, May 29, 2012 at 6:22 PM, Boyce, Thomas G., M.D. <
Boyce.Thomas at mayo.edu> wrote:


> **

>

> Do any of you see poorly characterized immune deficiencies in patients

> with mitochondrial disorders?

>

> This is an 8 year old girl born at 32 weeks' gestation who spent 5 weeks

> in the NICU with multiple chest tubes for chylous effusions and

> pneumothoraces and mechanical ventilation for 14 days.  She had severe

> bowel motility problems and is now TPN dependent.  She has neurogenic

> bladder and has a vesicostomy.  She has a poorly characterized

> mitochondrial disorder with complex deficiencies in the electron transport

> chain.

>

> Despite getting the inactivated influenza vaccine each year, twice she has

> developed severe ARDS and DIC with influenza, first in October 2009 and

> then in March 2011.  She will sometimes go into DIC with other infections

> as well, such as line infections with coagulase negative staph.  I measured

> her response to vaccine and she does make an immune response to influenza

> vaccine (and the infection).  After the second episode of severe

> complications associated with influenza, we have placed her on oseltamivir

> for the duration of the local flu season.  This year she did not get

> influenza (although it was a very mild flu year here).

>

> Most of her other infections are recurrent UTIs which are presumably more

> anatomical in predisposition.

>

> When she gets infection, she generally does not mount much of a febrile

> response.  She also does not develop leukocytosis.

>

> Her labs are as follows (not during an episode of DIC):

>

> Hb 11.9

> WBC 3.7 (1.92N, 1.45L, 0.22M, 0.12E, 0.03B)

> PLT 78

> ESR 3

> CD3 1161

> CD19 107

> NK 146

> CD4 503

> CD8 478

> H/S ratio 1.1

>

> B cell subsets essentially normal.

> CD4 RTEs were adequate 119 (38%)

>

> Igs are normal (IgG is supranormal as she gets IVIG monthly for autoimmune

> neuropathy)

>

> Slightly decreased (but not absent) NK cell function.

>

> Normal neutrophil oxidative burst.

>

> Normal lymphocyte proliferative response to PHA but no response to tetanus

> toxoid.

>

> Adequate tetanus and diphtheria serology (prior to starting on IVIG).

>

> Very poor response to polysaccharide pneumococcal vaccine

> (postvaccination, she has titers >1.3 mcg/mL to only 6 of 23 serotypes).

>

> Her specific mitochondrial defect remains undefined.  She clearly seems

> prone to severe manifestations of certain infections.  Are there other

> investigations that might characterize her immune susceptibility?

>

> Thanks.

>

> Tom

>

> Thomas G. Boyce, MD, MPH

> Pediatric Infectious Diseases and Immunology

> Mayo Clinic

> Rochester, MN 55905

> phone: 507-255-8464

> fax: 507-255-7767

> Boyce.Thomas at mayo.edu

>




-- 
Mark Ballow,MD
Allergy & Immunology Division
Women & Children's Hospital of Buffalo
SUNY Buffalo,School of Medicine
219 Bryant St
Buffalo, NY 14222
716-878-7105
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