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

[Church, Joseph]

JC Virus or prion disease?
Joe Church

From: Dewton Vasconcelos [mailto:dmvascon at usp.br]
Sent: Tuesday, January 21, 2014 9:02 AM
To: CIS-PIDD
Subject: [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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