Learning objectives
To describe the meaning of imaging findings for the recognition of 22q11.2 deletion syndrome (22q11.2DS) in oligosymptomatic patients.
Background
22q11.2 deletion syndrome is a common genetic disorder,
and the most common microdeletion syndrome in humans,
with a great phenotypic heterogeneity.
It is estimated that it occurs in 1:2000 – 1:4000 live births [6].
In fact,
it could be even more common,
because many patients with mild features can be undiagnosed [5].
Some patients presenting typical developmental abnormalities known as DiGeorge syndrome,
Velocardiofacial or Shprintzen syndrome are diagnosed in childhood.
However,
in oligosymptomatic patients the disease is either not identified or misdiagnosed.
Late manifestations,
which...
Findings and procedure details
Findings and procedure details
We present two patients,
who were diagnosed in adulthood with primary hypoparathyroidism due to parathyroid hypoplasia,
coexisting calcifications of basal ganglia in the central nervous system and psychiatric disorders associated with 22q11.2DS.
The first patient,
a 32 year old man,
complained of residual schizophrenia which then transformed into severe catatonia after a tetany attack that first occurred during an increased physical activity.
The laboratory tests revealed hypoparathyroidism without any other clinical evidence of Di George syndrome.
Moreover,
micro deletion 22q11.2 was...
Conclusion
Basal ganglia calcifications associated with skull base and temporal bone deformation should be suggestive of 22q11.2 deletion syndrome.
Such radiographic features should be recognized especially in patients with psychiatric illnesses as they can lead to the correct diagnosis.
References
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Neuroradiographic findings in 22q11.2 deletion syndrome.
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