Laryngotracheobronchial calcification is a rare finding
in children under 13 years old
5,6. It can develop due
to cartilage degeneration in elderly and is accepted
physiologic with increasing age
5. Tracheobronchial
calcifications can occur in Keutel syndrome, congenital
cardiac abnormalities, chondrodysplasia punctata syndrome,
and warfarin sodium therapy or rarely it can be
idiopathic
1,2,7-10.
Keutel syndrome is an extremely rare genetic disorder.
To the best of our knowledge 24 effected individuals
from 17 families with Keutel Syndrome have
been reported until now. In the report by Meier et al.,
laryngotracheobronchial calcification in Keutel Syndrome
was reported to cause dyspnea due to abnormal
calcification and result in stenosis of the trachea and
main bronchi in two young adult patients4. Our patient
did not suffer any respiratory problems yet she is
under critical clinical follow-up, because tracheal stenosis
could be a relatively late appearing symptom.
Brachytelephalangy with sparing of the fifth distal
phalanx is reported to be a characteristic even a diagnostic
feature for Keutel Syndrome1. This was one
of our patient's features. The distal phalanges of the
first four fingers were thickened, short and broad whereas
the fifth distal phalanx was relatively spared.
It was reported that mice deficient in Mgp, are
normal at birth but develop calcifications in all of the
arteries within weeks11. It was also hypothesized
that in humans inhibition of some other proteins acting
in similar fashion with Mgp might be needed for vascular
calcification.
Our patients thoracoabdominal CT imaging revealed
calcification in descending aorta. Concentric calcification
of hepatic, renal, coronary, meningeal and
cerebral arteries were mentioned in Keutel Syndrome
but to the best of our knowledge no previous aortic
calcification is reported4.
Our patient showed normal cranial imaging,
however it is possible that seizures were the indicator
of undetectable microcalcifications.
With a sum up of 25 Keutel syndrome patients
including the present case, it is by now quite apparent
that laryngotracheobronchial and vascular calcifications
in association with distinct facial characteristics should be suggestive of Keutel Syndrome and patients
should be followed-up for respiratory symptoms as
well as calcifications of vital vascular structures.