Rubinstein-Taybi Syndrome in a 19-years old boy

Rubinstein-Taybi syndrome is a rare genetic multisystem disorder comprising motor organ dysfunction, craniofacial dysmorphism and psychomotor retardation, frequently with the abnormalities of the thyroid gland.

Presentation of a case of a 19-year-old patient with Rubinstein-Taybi syndrome in whom serum TSH, fT3 and fT4 levels were assessed.

Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes and full eyebrows. Clinodactyly, broad thumbs and toes were observed in the musculoskeletal system. The patient presented with moderate mental retardation, short stature and obesity. Furthermore, I° thoracolumbar scoliosis, elbow joint deformation resulting from the radial head dislocation and limitation of the right hip motion as a consequence of Perthes disease were found. Genetic testing revealed a mutation affecting the CREBBP gene located on the short arm of chromosome 16. The measured serum TSH level was 1.510 μlU/ml (normal range 0.27-4.20), fT3 5.1 pmol/l (normal range 4.1-6.7), fT4 15.5 pmol/l (normal range 13.1-21.3). The patient is subjected to long-term rehabilitation.

The obtained results of laboratory tests of serum TSH, fT3 and fT4 levels point to a lack of thyroid gland dysfunction in the patient with Rubinstein-Taybi syndrome. Rehabilitation treatment of patients with RTS is necessary to improve the patient's mobility.