Rubinstein taybi syndrome
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Transcript of Rubinstein taybi syndrome
Case Preserntation Dr Md Afzal Mahfuzullah
Long term Fellow Vitreo-Retina Department
Chairman Dr Nazmun Naher
Associate Professor cum ConsultantVitreo-Retina Department
Ispahani Islamia Eye Institute & Hospital
• Arif Hossain • Age:07yrs • StudentChief Complaints :• Diminished of vision in right eye for 6 days• Alternate deviation of both eyes since birth
Past History History of barrage laser in both eye due to peripheral retinal ischaemia & lattice
On first visit on 26th Sept 2010In Paediatrics Department
R/E L/EV/A FF FF
Refraction -18 DSP/-2x180 DCYL
-18 DSP/-2x180 DCYL
Outcome:Orthoptic evaluation done & diagnosed as RXT /AXT (V Pattern) with fixing L/E
:Deviation 60 prism D (krimsky method)Plan: EUA with VR evaluation .
Orthoptic evaluation 0n 2010
On 2nd visit on 12th february 2014 EUA doneR/E L/E
Refraction -14.OODSP/ -1.OOx10 DCYL
-16 DSP
IOP (GAT) 13mm of Hg 15mm of Hg
VR evaluation Peripheral retinal ischaemia with
lattice & few degenerative
change
Peripheral retinal ischaemia with
lattice & few degenerative
change
Out come:Diagnosed as pathological myopia with FEVR.Plan & advice: Barrage laser B/E done
On 3rd visit on 13th April 2015
R/E L/E
V/A PL +
6/18
Ant segment Normal Normal Lens Transparent Transparent
Fundus Bullous RD Peripharal lold
laser mark with attached Retina
Preoperative Fundus picture Ret Cam Shuttle Pediatric Retinal Imaging System
R/E L/E
Advice for
• R/E: 360 BB+PPV+PPL+PFCL+EL+SOI under G/A
Surgery was performed on 14th april
• 360 BB+PPV+PPL+PFCL+EL+SOI under G/A• On Discharge:
R/E L/E
V/A Hm 6/18
Fundus Retina attached Retina attached
Post operative CFP (All quadrent) R/ESilicon oil filled with attached retina R/E
General Examination :
• Patient is noncooperative, conscious, oriented
Vital Parameters :• Blood pressure : 130/80 mm/Hg• Pulse : 84/min
External & ocular features
• External appearance: Mentally retarded• Ocular feature:• Hypertelorism
• V pattern exotropia
• Pathological Myopia
• Retinal detachment
External & ocular features Cont.
Extroral feature revealed:
Broad forehead
Hypertelorism
Broad nasal bridge
Beaked nose
Intraroral feature revealed
• Talons cusps in the upper lateral incisors
• Carious teeth
• High arched & narrow palate
Broad thumb & great toe
Neurological Examination:
• Other cranial nerves – Normal• Motor System - Normal• Sensory System – Normal• Cerebellar system – Normal• Mentlly retarded
Respiratory System: • Normal breath sounds heard• No added sounds
Cardiovascular System:• S1 ,S2 heard • No murmur
•Hb : 12 gm %•ESR : 12 mm after 1 hr•Platelet : 4.85 lakh/cumm •RBC : 4.27 million/cumm •RBS :98 mg/dl • PCV : 29 % •MCV : 68 fl •MCH : 20 pg • MCHC : 30 •TC: 12,300 cells/cumm N : 87 % E : 4 % , L : 9 %
Chest X Ray – Normal
Investigations
Differential Diagnosis
• Rubinstein-Taybi syndrome.
• Apert syndrome
• Pfieffer syndrome
Provisional Diagnosis
. Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome
Discussion
Rubinstein-Taybi Syndrome or Broad Thumb-Hallux syndrome
Discussion Cont
• First described by Michael et al in 1957
• In 1963 Rubenstein & Taybi reported 7 cases of this syndrome
• Caused by microdelation at 16p13.3 or mutations in the CREB binding protein gene
Incidence is about 1 in every 3000,000 newborns Incidence in male & female is equal
Ref: Fang and Wang: Curr Eye Res 2008;33:517 (review). Read et al: Curr Opin Ophthalmol 2000;11:437 (review). Yamaki et al: Int Ophthalmol Clin 2002;42:13 (review)
Discussion Cont.Characteristics of Rubinstein-Taybi Syndrome
Eye Strabismus ( V pattern exotropia), Refractive error s(High Myopia), Downward sloping palpebral fissure, Ptosis, Coloboma, cataracts, Nystagmus
Orthopaedic Broad thumbs, & first toes, short stature, vertebral abnormalities
Dental Crowding teeth,malocclusion,multiple caries,hypodontia,hyperdontia,telon cusps
Cardiac Congenital heart defects
Tumors Meningioma,neuroblastoma,meduloblastoma,oligodendroglyoma,seminoma with undescended testis
Skin Keloids
Sleep apnea Obstructive sleep apnea
Ref: Al-Kharashi, Abu El-Asrar: Int Ophthalmol 2007;27:201 Abu El-Asrar et al: Eye 2008;22:1124
Related Article• High myopia V pattern esotropia and bilateral nasolacrimal duct obstruction in a child
with Rubinstein-Taybi syndrome• Jyoti Matalia 1*, Chandrashekhar Kale 1, Meenakshi Bhat 2• Authors affiliations:1 Pediatric Ophthalmology and Strabismology Services, Narayana Nethralaya, Narayana Health City, Bommasandra,
Hosur Road, Bangalore, India2 Centre for Human Genetics, Biotech Park, 1st phase, Electronic city, Bangalore, India• Advances in Pediatric Research 2015, 2:4Article type: Case Report
• Summery: A female child of Indian origin with Rubinstein–Taybi syndrome with ocular features of convergent strabismus (V-pattern esotropia), bilateral high myopia and congenital nasolacrimal duct obstruction. This case report highlights the management and the final outcome about the variability of the ocular features, as well as the importance of an ocular examination in patients with Rubinstein–Taybi syndrome.
Related Article Cont.• Retinal detachment with high myopia in the Rubinstein-Taybi
syndrome.
• Marcus-Harel T1, Silverstone BZ, Seelenfreund M, Schurr D, Berson D.• Case Rep Dent. 2012; 2012: 483867. • Published online 2012 Sep 6. doi: 10.1155/2012/483867
• Summery: A case of rhegmatogenous retinal detachment with high myopia is presented in a 17 year old boy with the typical characteristics of the Rubinstein-Taybi syndrome.Multiple eye anomalies are known to occur in this syndrome, the occurrence of retinal detachment may be associated with this syndrome.The importance of including a thorough fundus examination in the routine eye examination of these patients is emphasized.
• Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature
• Maria M van Genderena, Geert F Kindsa , Frans C C Riemslaga, Raoul C M Hennekamb
• Dr R C M Hennekam, Department of Pediatrics, Academic Medical Centre, Meibergdreef 15, 1105 AZ Amsterdam, [email protected]
• Accepted 26 April 2000
• Purpose: To delineate the nature and frequency of ocular pathology in Rubinstein-Taybi syndrome (RTs). .
• Conclusions: Ocular abnormalities occur in the majority of RTs patients and can be remarkably diverse. The high frequency of retinal dysfunction (78%) may be associated .With age, retinal as well as electrophysiological abnormalities occur more frequently. Visual function tests and electrophysiological investigations should be performed in every RTs patient at regular intervals.
Take Home massage ˃ Ocular abnormalities occur in the majority of RTs patients
and can be remarkably diverse
˃ A thorough fundus examination in the routine eye examination of these patients is emphasized.
˃ Visual function tests and electrophysiological investigations & MRI should be performed in every RTs patient at regular intervals
˃ Proper counselling as well as symptomatic treatment is advised
• .