Type:
Educational Exhibit
Keywords:
Computer Applications-Detection, diagnosis, MR, CT, Neuroradiology brain, Anatomy, Genetic defects
Authors:
J. Podgorska, K. Dąbek, M. Popow; Warszawa/PL
DOI:
10.1594/ecr2018/C-1710
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 may appear in adulthood,
include hypoparathyroidism and psychiatric illnesses such as schizophrenia,
anxiety and mood disorder.
However,
delayed diagnosis is not meaningless,
as unidentified hypocalcemia may present as a life-threatening condition and also is associated with psychiatric condition deterioration.
On imaging most of the patients have significant radiographic findings,
including polymicrogyria or cortical dysplasia,
midline anomalies (e.g.cavum septum pellucidum,
cavum vergae),
skull base and inner ear deformities,
and hypoplastic cerebellum.
These findings associated with minor basal ganglia calcifications secondary to hypoparathyroidism may be suggestive of this diagnosis.