[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[Church, Joseph]

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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