Stenosis of the Lachrymal System in Rubinstein-Taybi Syndrome

Abstract

In this article the authors describe a case of atypical stenosis of the lachrymal excretory system in Rubinstein-Taybi syndrome (RTS) characterised by morphologic anomalies of the lachrymal bag and by alterations of the osseous structure of the nose. A 9-year-old girl, with typical findings of RTS, was affected by recurrent acute dacryocystitis and tearing. Ocular examination revealed bilateral reflux with mucous and purulent material flowing back after digital pressing: low and bilateral nose-lachrymal duct obstruction was the main cause of the reflux as confirmed by orifice probing, lachrymal drainage system irrigation and spiral CT examination using hydrosoluble contrast medium. The multiplanar reconstruction obtained from CT scanning shows that the right lachrymal sac has an abnormal shape (‘grape-bunch’ image) and that the left one has various bulgings, or swellings, in its shape. The ‘grape-bunch’ lachrymal bags are the most unusual features of our patient’s lachrymal system and it is important to consider the difficulties that could occur during surgery because of the abnormal bag shape and because of the increased bone thickness in RTS patients. The ‘grape-bunch’ lachrymal sac is a truly unusual anatomical feature and, most probably, it could be distinctive of this syndrome.

Rubinstein-Taybi syndrome: clinical features, genetic basis, diagnosis, and management

“…However, any organ can be affected in RSTS patients. Possible malformations, medical problems, and complications include (Table 1 ): conductive and/or sensorineural deafness, recurrent middle ear infections, recurrent respiratory infections, immune deficiencies [ 34 - 36 ]; nonspecific abnormalities of electroencephalography (EEG) (57-66%) and seizures (25%) [ 37 , 38 ]; cataract, unilateral or bilateral iris/retinal/optic nerve coloboma (9-11%), glaucoma, lacrimal duct obstructions (38-47%), refractive errors (41-56%), and strabismus (60-71%) [ 39 - 41 ]. In addition, Jacobs et al .…”

“…cataract, unilateral or bilateral iris/retinal/optic nerve coloboma (9-11%), glaucoma, lacrimal duct obstructions (38-47%), refractive errors (41-56%), and strabismus (60-71%) [ 39 - 41 ]. In addition, Jacobs et al .…”

Ultra-Rare Syndromes: The Example of Rubinstein–Taybi Syndrome

“…35,36 Among ocular anomalies, strabismus (60-71%), refractive errors (41-56%), lacrimal duct obstructions (38-47%), glaucoma, unilateral/bilateral iris/retinal/optic nerve coloboma (9-11%), and cataract (peripheral avascularity) in order of prevalence have been described. 37,38 Skeletal malformations mainly concern thumbs and big toes, which are frequently broad and short (96%) and laterally deviated in one-third of cases. Broadening of distal phalanges of all fingers, not always taken into account and hence likely underestimated, was recently found in many patients (36%) and hence should be considered a typical and frequent sign of RSTS.…”

The functional secondary effect after an integrated rehabilitative intervention to learn reading and writing in a girl with Rubinstein-Taybi syndrome

“…The child is the second of three children, none of whom had phenotypic similarities with the patient. She was born at term (41st week) by partus caesareus after a normal pregnancy, weighing 3 kg 575 g. At age three, she underwent a right lachrymal duct stenosis correction [13,14]. She had a history of recurrent respiratory infections, an episode of pyelonephritis, growth delay, coloboma on the optic nerve of the right eye [15], and patent ductus arteriosus with a slightmoderate left-right shunt [16], which was closed at the age of six; no major cardiopathy was reported.…”