Pneumosinus dilatans and hypercalcification of the falx and ligamentum petroclinoideum in myotonic dystrophy 1.
OBJECTIVE
Pneumosinus dilatans (PSD) is a rare condition characterized by abnormally enlarged aerated sinuses, but normal thickness and preserved integrity of the sinus walls. PSD occurs most commonly in young men. Its etiology remains elusive but has been associated with various conditions, such as hydrocephalus, trauma, Dyke-Davidoff syndrome, meningocele, arachnoidal cyst, meningioma, neurofibromatosis 2, and neurolemmoma. PSD has not been reported in myotonic dystrophy type 1 (MD1).


METHODS
We present a 43-year-old man with MD1 because of a CTG-expansion of 1333 repeats in the DMPK gene. A computed tomography scan of the cerebrum, carried out for assessment of central nervous system involvement in MD1, surprisingly demonstrated PSD. Because PSD was asymptomatic no surgical treatment was recommended to the patient. Whether PSD was a manifestation of MD1 or a mere coincidence remains elusive.


CONCLUSIONS
This case shows that PSD may occur together with MD1. Whether this association is causal or coincidental remains to be elucidated. It also remains speculative whether PSD contributes to the facial dysmorphism frequently present in MD1 patients. If PSD becomes symptomatic surgical intervention should be considered.
Finsterer
Josef
J
Krankenanstalt Rudolfstiftung, Krankenanstalt Rudolfstiftung, Vienna, Austria, Europe. fifigs@yahoo.de
Stöllberger
Claudia
C
Mölzer
Günther
G
Prager
Elfriede
E
D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging; D001927:Brain Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D002114:Calcinosis / Q000150:complications* / Q000000981:diagnostic imaging; D002531:Cerebellum / Q000000981:diagnostic imaging; D006801:Humans; D008297:Male; D009223:Myotonic Dystrophy / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D065636:Myotonin-Protein Kinase; D010254:Paranasal Sinus Diseases / Q000150:complications* / Q000000981:diagnostic imaging; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D014057:Tomography, X-Ray Computed
C585517:DMPK protein, human; D065636:Myotonin-Protein Kinase; D017346:Protein Serine-Threonine Kinases