Ataxia telangiectasia is a rare multisystem disorder which carries an autosomal

recessive inheritance, sometimes classified as a phakomatosis. It is characterised

by multiple telangiectasias, cerebellar ataxia, pulmonary infections and
immunodeficiency.

On brain imaging, it usually demonstrates vermian atrophy, compensatory enlargement

of the fourth ventricle, cerebral infarcts and cerebral haemorrhage secondary to
ruptured telangiectatic vessels.

Epidemiology
The estimated incidence is at around 1:40,000-300,000 live births.

Clinical presentation
The main clinical characteristics include:

cerebellar ataxia: progressive and present in all cases

oculomucocutaneous telangiectasias
greater susceptibility to types of infection (partial combined immunodeficiency 3)
and neoplasms
Pathology
Genetics
The condition is thought to result from a defective gene located on chromosome
11q22�23.

In less severe cases, termed "ataxia telangiectasia variants", there is retention

of some ATM kinase activity due to either expression of very low levels of normal
ATM protein (from splice site mutations) or expression of mutant ATM (from missense
mutations)4.

AT variants are a phenotypically heterogeneous group, characterised by slower

progression of clinical signs, an extended lifespan compared to most patients with
the classical form of the disease with less cellular sensitivity to radiation,
susceptibility to malignancies and recurrent sinopulmonary infection.

Radiographic features
MRI
MRI typically demonstrates cerebellar volume loss and compensatory enlargement of
the 4th ventricle.

Additionally, scattered small white matter T2 hypointensities are often identified

in patients with ataxia telangiectasia, most likely representing tiny hemosiderin
deposits related to thrombosis and vascular leaks from telangiectatic vessels 5,11.
This imaging appearance can also be seen in amyloid angiopathy, disseminated
intravascular coagulopathy and multiple cavernomas 6. �Gliovascular nodules� within
the white matter have previously been described and consist of dilated capillary
loops with perivascular haemorrhages and hemosiderosis, surrounded by reactive
fibrosis and demyelinated white matter7.

Diffuse T2/FLAIR hyperintense signal within the cerebral white matter consistent
with demyelination and gliosis has previously been described in ataxia
telangiectasia and may reflect ischaemia and white matter degeneration due to
vascular abnormalities 11, severe oligodendrocyte and myelin loss 8, coagulation
necrosis 9 and leukodystrophy 10. A recent study using MR spectroscopy of adult
patients with ataxia telangiectasia suggests that the white matter T2/FLAIR
hyperintense signal abnormality is secondary to reduced cellularity rather than
active demyelination or ischaemia 11.

MR spectroscopy: increased choline signal in the cerebellum has been described as a

valuable differentiator from other forms of ataxia 2.
Treatment and prognosis
As there is no cure (currently), treatment is generally around supportive measures.

Complications
recurrent bronchopulmonary infection is a frequent complication that can result in
permanent lung damage
there is an increased incidence of malignancy (e.g. bowel and breast cancer)
Differential diagnosis
See differential for diffuse cerebellar atrophy.