Dr. Shobika, Dr.Jayakumar,Dr.Praveena,Dr.Preethi
AIMS kochi
Nine months old female child was brought with complaints of inward deviation of right eye noticed mother around 5 months of age.
No h/o watering of eyes,eye discharge,nystagmus, Past history:No previous hospital admission in past Birth history:1st child of NCM
Antenatal history:Uneventful
Natal history:Term/AGA/Female/B.W-3.5kg/CIAB Post natal history:Uneventful
Developmentally normal and immunized upto age. At admission,child was afebrile,active,alert
inward deviation of right eye
No PICCLE
Vitals:T-98,PR-144b/min,RR-42b/min,Spo2-100%on RA
S/e:was normal
Investigations:
TLC-14.78ku/ml,N/L-22/70.4,plt-567,hb-11.4g/dl
Na-144,K-4.8mEq/l
Ophthalmological evaluation done
Examination under anasthesia – corneal diameter RE-12mm,LE-12mm
Right eye – Disc is partially engulfed a mass about 15DD vertically and more than 15DD horizontally from arcade to arcade with detached retina over it.
Another mass 3DD vertical and horizontal superonasal with dilated vessel and retinal seeding around it.Inferior and superior retina is clear and attached.
Inferotemporal peripheral retina shows a discrete mass of 2DD in size Both peripheral masses is growing under the retina.
Left eye – Total retina detachment with mass lesion seen underneath and whitish area seen superiorly.?calcification.
Tonoferon IOP RE-5,6, LE-21,20
B scan done showed Right eye – shallow retinal detachment with a white mass projecting into the vitreous with a mushroom head appearance.
Left eye -white mass of tissue growing into the vitreous cavity.
MRI brain with orbit- Irregular bilateral intra ocular mass broad to retina measuring 9.5 x 6.5mm(Right) and 11.5 x 12.6mm in left eye.lesions appears hypointense on T2W images shows diffusion restriction. There is no extension outside globe.No involvement of retrocular optic nerve.optic chiasma is normal.No neuroparenchymal lesions. No hydrocephalus.Pineal gland measures 7 x 4 mm,mildly enlarged.
Brain stem and cerebellum appears normal.No acute infarct.No bleed.
Diagnosis of retinoblastoma was made.
Treatment Options were discussed. The child was started on 1st cycle of chemotherapy with Carboplastin,Vincristine,Etoposide and was kept on regular follow up.
Retinoblastoma:
Retinoblastoma is the most common primary intraocular malignancy of childhood and accounts for 10 to 15 percent of cancers that occur within the first year of life.
Inicidence:
Retinoblastoma occurs in approximately 1 in 15,000 to 1 in 16,600 live births
Retinoblastoma occurs in heritable (due to germline mutations) and nonheritable forms (due to somatic mutations)
Clinical features:
Leukocoria,strabismus,nystagmus, and a red inflamed eye Gene: RB1 gene mutations
Investigations:
Complete physical examination
Ophthalmologic examination under anesthesia (EUA) Ocular ultrasonography (B-scan, which is two-dimensional) Optical coherence tomography (OCT) – OCT
Magnetic resonance imaging (MRI)
Differential diagnosis:
Coats disease, which is an exudative retinal vascular disorder characterized retinal telangiectasias and subretinal exudation leading to serous retinal detachment.
Persistent fetal vasculature (PFV), which typically presents shortly after birth and results from an idiopathic failure of the embryonic primary vitreous and hyaloid vascular system to involute during gestation.
Vitreous hemorrhage, which can occur in the setting of vitamin K-deficient bleeding of the newborn, advanced retinopathy of prematurity, PFV, trauma, or leukemia.
Treatment:
First-line therapeutic options include Ophthalmic artery chemosurgery (OAC) Systemic chemotherapy
Radioactive plaques (I-125 brachytherapy), and enucleation.
Focal treatment (eg, laser photocoagulation, cryotherapy) for the least affected eye if the tumor is small and extrafoveal with enucleation of the more advanced eye. The child may require adjuvant chemotherapy if there are pathologic risk factors for the more advanced eye.
•Systemic intravenous chemotherapy augmented other consolidative therapies (laser, cryotherapy, brachytherapy, intravitreous chemotherapy).
•Bilateral OAC with or without intravitreous chemotherapy or other consolidative therapies.
Choice of treatment:
Tumor size, location, and laterality
•Presence or absence of vitreous or subretinal seeds •Patient age
•Visual prognosis
Follow up:
Long-term follow-up for patients with retinoblastoma includes monitoring for tumor recurrence and following for long-term treatment-related complications.
The risk period for extraocular spread after successful treatment or enucleation is 12 to 24 months.