[CIS PIDD] Teen with immunodeficiency and recent onset ataxia
Freeman, Alexandra (NIH/NIAID) [E]
freemaal at mail.nih.gov
Thu Jun 21 17:43:03 EDT 2012
Has the patient had an LP? Curious because Varicella zoster can be associated with cerebral vasculopathy, and CSF PCR may be positive. Also would be worth looking for other more indolent infections.
Alexandra
On 6/21/12 10:52 AM, "Church, Joseph" <JChurch at chla.usc.edu> wrote:
Thank you all for your input on this boy.
DOCK8 studies are pending.
Assuming he has a DOCK8 mutation/deletion, BMT would be appropriate. However, my primary concern at this time is his progressive cerebellar dysfunction.
This is the reading of his MRI/MRA:
There is moderate cerebellar volume loss with associated mild
dilatation of the fourth ventricle. There is abnormal T2 FLAIR
hyperintensity particular involving the superior cerebellar
hemispheres and superior cerebellar vermis. There is questionable
abnormal T2 FLAIR hyperintensity involving the bilateral medial
temporal lobes, also within the distribution of the posterior
circulation, although it is difficult to appreciate significant volume
loss in this distribution. The MRA angiogram there appears to be
vascular disease involving the posterior circulation. There several
short segment areas of mild stenosis of the basilar artery. There are
stenoses involving the bilateral posterior cerebral arteries with a
likely focus of occlusion involving the right-sided posterior cerebral
artery. It is difficult to appreciate normal PICAs, AICAs or superior
cerebellar arteries. The right vertebral artery is small in size,
terminating in the expected location of the right PICA, which is a
normal anatomic variant. Multiple small collateral vessels with
flow-related enhancement are visualized in and adjacent to the
expected distribution of the posterior cerebral arteries bilaterally.
The remainder of the brain is of normal signal intensity on all pulse
sequences. There are no areas of restricted diffusion or abnormal
enhancement. There are no extra-axial masses or fluid collections.
There is no mass effect or midline shift. The ventricles are normal in
size, shape and configuration. The sellar and parasellar regions are
unremarkable in their appearance.
The orbits, mastoid air spaces, skull, and soft tissues of the scalp
are unremarkable in their appearance. There is bilateral frontal,
ethmoid, and right maxillary sinus disease.
Upon evaluation of the anterior circulation, no gross abnormalities
are identified. Apparent areas of stenosis involving the distal
cervical and proximal petrous internal carotid arteries bilaterally
are most likely artifactual. Otherwise the petrous, cavernous and
supraclinoid internal carotid arteries are normal in course and
caliber bilaterally. The anterior cerebral and middle cerebral
arteries are normal in course and caliber bilaterally. The anterior
communicating artery is unremarkable in its appearance. The posterior
communicating arteries are unremarkable in their appearance
bilaterally. There is no evidence of stenosis, occlusion, aneurysm or
vascular malformation.
Upon evaluation of the MR venograms, no gross abnormality is
identified. Intracranially there is normal flow-related enhancement of
the superior sagittal sinus, bilateral transverse sinuses, bilateral
sigmoid sinuses, bilateral internal cerebral veins, bilateral basal
veins of Rosenthal, vain of Galen and straight sinus. Within the neck
there is normal flow-related enhancement of the left internal jugular
vein. There of flow-related enhancement involving the right-sided
internal jugular vein extending from the level of the skull base
inferiorly to just below the level of the mandible.
Partially imaged incompletely evaluated and is enlargement and
nodularity of the bilateral parotid glands and of the right-sided
submandibular gland. There may also be cervical lymphadenopathy
although this is not well imaged on this MRI of the brain.
Impression:
Vascular disease involving the poster circulation with areas of
stenosis and occlusion and with multiple small collateral vessels.
There is associated volume loss of signal abnormality involving the
cerebellum which is likely related to vascular insults. There is no
evidence of an acute infarction. Dedicated digital subtraction
angiography may be helpful to further characterize the disease, if
clinically indicated.
Absence of a flow-related enhancement of portions of the right-sided
internal jugular vein. It is unclear whether this is related to
compression of the structure or could be related to to an area of
thrombosis. Absence of flow-related enhancement in this region could
be related to compression secondary to patient's enlarged parotid
glands. Dedicated imaging of the neck with CT, MRI or ultrasound can
be helpful for further evaluation.
Generalized enlargement and nodularity in the appearance of the
bilateral parotid and right-sided submandibular gland. The exact
etiology of this is unclear although differential considerations
include Sjogren's or a lymphoproliferative disorder. Consider
dedicated imaging of the neck with CT or MRI.
Any help in addressing this issue would be much appreciated.
JC
From: Church, Joseph
Sent: Wednesday, June 13, 2012 4:23 PM
To: pagid at list.clinimmsoc.org
Subject: Teen with immunodeficiency and recent onset ataxia
Colleagues:
I will be seeing a 15yo Middle Eastern young man born to first cousins.
He has had chronic upper airway infections (H. influenzae and S. pneumoniae), recurrent presumed bacterial pneumonias, two year history of cervical adenopathy, and recent onset of ataxia. He has had recurrent purpuric skin rashes on lower extremeties that last for ~3days. Biopsies suggested "dermal hypersensitivity reaction” with negative immunofluoresence.
Vascular calcifications involving aorta, aortic arch were noted.
Ataxia was thought to be secondary to CNS calcifications (? confirmed)
Development is reportedly normal.
Limited labs available include the following:
WBC 10,700 with 37% eosinophils
CD4 332↓ IgG 21.1 g/L↑ Hepatitis and HIV screening negative.
CD8 18% IgA 6.19 g/L↑
CD19 892 IgM <0.1 g/L↓
NK 152 IgE 1200 u/ml↑
Mandibular mass biopsy: salivary gland with diffuse lymphocytic infiltrates.
I am unaware of any immunosuppressive therapy.
If this (rather incomplete) picture suggests any genetic syndrome, I would appreciate any help.
Thanks.
Joe Church
Children's Hospital Los Angeles
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