[CIS PIDD] [cis-pidd] CVID with dementia

[Seppänen Mikko]

Dear Dewton
The findings are distinct from the cases described in XLA and CVID in Brain 1996; 119:1-5. Generalized both cortical and cerebellar atrophy, CSF pleocytosis, no myelopathy.
Infections:
Not many infections cause widespread atrophy, viruses and prions seem thoroughly checked, has neurosyphilis been ruled out?
PIDD:
PRKCD?
ATLD/MRE11, though medial hemispheric atrophy noted in some cases, sounds improbable since ATLD has no hypogamma?
ICF can be misleadingly normal looking, could have ataxia and have AID/UNG-like findings, I guess both MZB and smB would be low.
--> Any evidence of chromosomal translocations/ radiation sensitivity?
There is an old report of fucosidosis (which causes generalized brain atrophy) being linked to sIgAD+ mild hypogamma., for what it's worth.
Immunology:
IVDU: any substance abuse? I have a CVID (supposedly, panhypogamma, low responses to PnP, but previous steroid use before testing) patient who got necrotizing lymphadenitis resembling Kikuchi/lupus, as well as cognitive impairment and mild hemispheric cerebral atrophy, due to the fact that he injected crushed opiate? tablets into his veins and in brain biopsy a foreign body reaction was seen. Is now off drugs, doing well infection-wise but cognitive impairment was irreversible and is now retired at the age of 24, had in the beginning a difficult to control epilepsy, now has not had seizures in over 1 year. And no lymphadenopathy anymore.

Oligoclonality? MS variant?
ACA causes cerebellar atrophy only, and I am not aware of an autoimmune encephalitis form causing both cortical and cerebellar atrophy, though either can be occasionally seen. Unsolved old cases are described in literature though. You could screen for autoantibodies I guess, since at least NMDA-R Abs are seen in CVID patients.
Ataxia in general is seen together with the sometimes non-paraneoplastic NMDA-RAbs, GADAbs (IVIg contains these at least in Finland, GADAb titers up to 100 using the reference/consensus method are seen commonly in IVIg recipients), as well as together with the almost always paraneoplastic Abs: amphiphysin-, CRMP5a, Ma1, Yo, Trotter, Ri, Hu, PCA2-, usually together with thymoma, lung cancer, lymphoma or other malignancy (male, so teratoma not).
Hope this helps some, You do/patient does have a real problem!

Mikko Seppänen,
Helsinki Finland

Lähettäjä: Dewton Vasconcelos [mailto:dmvascon at usp.br]
Lähetetty: 21. tammikuuta 2014 19:02
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] CVID with dementia

Dear all
We are following up a possible "CVID" patient that is really worrying us.
GPP, 24 years old male patient, born to non-consanguineous parents.
History of frequent diarrheas due to Giardia, upper respiratory infections and a few pneumonias since childhood. When he was 22 years old (in 2011) he was at the college and noted progressive loss of memory for recent events leading to dementia in two years. At the end of 2011 he was evaluated by a neurologist who diagnosed neurologic Behçet's disease based on NMR images and increase of lymphocytes in CSF. The CSF lymphocytes at that time suggested clonality not observed later on. He was treated with pulse methylprednisolone and immunosuppression with azathioprine for one year, changed to methotrexate and high dose IVIg. There was a dosage of serum Igs showing hypogammaglobulinemia of all isotypes during this period, but the neurologic team that was treating the patient didn't note.
When he was treated with IVIg and MTX he improved a lot from the respiratory infectious manifestations and presented some improvement of the neurologic manifestations. Nevertheless the initial neurologic improvement subsided and full-blown dementia developed, followed by progressive ataxia. At that time a new neurologist was consulted and thought about an enteroviral disease not confirmed by PCR in the CSF and sent to evaluation by immunology clinic.
The patient was sent to us a few months ago with this clinical picture.
We thought initially of an X-linked agammaglobulinemia with enteroviral infection (there was a coincidence of his neurologic deterioration with the born of his daughter) and late-onset ADA deficiency with neurological involvement. At that time Brazilian Ministry of Health used to distribute Oral Polio Vaccine (Sabin - OPV) for administration at the 2nd, 4th and 6th month of life.
The immunological evaluation excluded XLA and was highly suggestive of CVID, with normal counts of T, B and NK cells, decrease of switched memory B cells, plasmablasts and low CD21+ B lymphocytes. ADA activity was normal, as well as lymphoproliferation to PHA, anti-CD3, PWM and CMV, and low to tetanus toxoid. At that time IgM, IgE, IgM below limit of detection and IgG normal (receiving IVIg anti-inflammatory dosage).
The evaluation of pathogens (fungal, mycobacterial, bacterial and mainly viral) was all negative. We tested by PCR for herpes (1-8), adenovirus, JC and BK viruses, HTLV/HIV, enteroviruses, astrovirus, flaviviruses, sapovirus, norovirus, arboviruses in CSF (all negative).
Nuclear magnetic resonance images showed diffuse CNS atrophy, without any area suggestive of inflammation that could drive our biopsy.
We are thinking in performing a brain biopsy in order to improve the sensitivity of the detection of any possible pathogen by PCR and looking at electron micrography to look for any possible viral particle.
We are eager for any suggestion of possible diagnoses and tests that we didn´t think until now.
Thank you very much,

Dewton

--

Dewton de Moraes Vasconcelos, MD, PhD

Primary Immunodeficiencies Outpatient Unit ADEE3003

Lab. of Medical Investigation Unit 56

University of São Paulo School of Medicine

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