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Nasal Brushing Sampling and Processing Using Digital High Speed Ciliary Videomicroscopy – Adaptation for the COVID-19 Pandemic
Published on: November 7, 2020
Oralfacialdigital-like syndrome with respiratory tract symptoms from birth and ultrastructural centriole/basal body
Unne Stenram1, Catarina Cramnert, Helene Axfors-Olsson
1Department of Pathology, Lund University, Lund, Sweden. unne.stenram@med.lu.se
Unlabelled:
A girl with polydactyly has had respiratory tract problems, including atelectasis, since birth. She has a high arched palate, a tongue hamartoma and dysmorphic face. Electron microscopy of nasal and bronchial brush biopsies repeatedly revealed centriole/basal body disarray and extreme sparseness of cilia. At the age of 2 years and 11 months, she displayed retardation of both motor and mental skills.
Conclusion:
The manifestations tally with a ciliopathy, partly with the Bardet--Biedl syndrome (BBS) but especially with the oralfacialdigital syndrome (OFDS); however, with the addition of persistent respiratory tract problems. As these two syndromes are considered to be due to mutations affecting the centriole/basal body apparatus, the ultrastructural demonstration of disarray of these structures, never before demonstrated in such a patient, is of fundamental interest.
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