Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome

Akinfenwa, Patricia Y.; Chévez-Barrios, Patricia; Harper, C. Armitage; Gombos, Dan S.

doi:10.1159/000439595

Cited by 4 publications

(1 citation statement)

References 8 publications

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“…10,11,12,13 A similar case of late presentation of retinoblastoma in a teen with Aicardi Syndrome has been reported from Houston. 14 There are a number of explanations for the late presentation of retinoblastomas. Persistence of rare embryonal retinal cells may lead to malignant transformation in later life 15 .…”

Section: Figure 1: Leucocoria In the Left Eyementioning

confidence: 99%

Unilateral Sporadic Retinoblastoma in an 11-Year-Old Child: A Rare Case Report

Jha¹,

Govindaraj²,

Dora³

et al. 2016

jebmh

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BACKGROUNDRetinoblastoma is the commonest intraocular tumour of childhood. Majority of cases are diagnosed before 5 years of age, with late presentation being a rarity. CASE REPORTAn 11-year-old boy presented to our OPD with diminution of vision and white pupillary reflex in the left eye since 1 month. Right eye was normal. Fundus examination of left eye revealed a mass in the inferior quadrant with vitreous haemorrhage. Bscan and MRI were suggestive of retinoblastoma and showed no signs of optic nerve involvement. Subsequently, the patient underwent enucleation of left eye. Primary orbital implant was given. Diagnosis was confirmed histopathologically. CONCLUSIONLate presentation of retinoblastoma though uncommon can cause acute visual impairment. Retinoblastoma should be considered in the differential diagnosis of leukocoria in any age group. HOW TO CITE THIS ARTICLE:Jha N, Govindaraj B, Dora J, et al. Unilateral sporadic retinoblastoma in an 11-year-old child: A rare case report.

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Section: Figure 1: Leucocoria In the Left Eyementioning

confidence: 99%

Unilateral Sporadic Retinoblastoma in an 11-Year-Old Child: A Rare Case Report

Jha¹,

Govindaraj²,

Dora³

et al. 2016

jebmh

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Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst

Lira

Berry

Weller

et al. 2018

Ophthalmic Plastic &Amp; Reconstructive Surgery

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A 5-year-old girl with Aicardi syndrome and microphthalmia with cyst of the OD presented with progressive enlargement of the cyst causing pain. Microophthalmia with inferior cyst (35 × 25 × 12 mm) was noted at birth, and Aicardi syndrome was diagnosed at 10 months by the presence of the classic triad of callosal agenesis, infantile spasms, and chorioretinal lacunae. She underwent enucleation with cyst resection, and subsequent reconstruction with a dermis fat graft. Histopathologic study revealed adenocarcinoma of the pigmented ciliary epithelium. Full-body metastatic workup was negative. Adenocarcinoma of the pigmented ciliary epithelium is an extremely rare eye tumor with only 4 documented cases in the literature, none arising in a microophthalmic eye with cyst. Aicardi syndrome is also a rare disease that has been associated with increased incidence of malignancy and ocular abnormalities, but has never been described in association with microophthalmia with cyst or with adenocarcinoma of the pigmented ciliary epithelium. Herein, the authors present a review of the case and relevant literature.

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High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma

Wharton¹,

Johnson

Connelly

et al. 2018

Journal of Pediatric Hematology/Oncology

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Aicardi syndrome (AS) is a rare neurodevelopmental disorder, predominantly seen in female individuals, which appears to have an increased risk of both benign and malignant neoplasia. We report the case of a child with AS who presented with metastatic malignant sacrococcygeal tumor (with yolk sac elements) which recurred and then was treated with 3 cycles of high-dose chemotherapy with autologous stem cell rescue. The patient tolerated therapy with acceptable toxicity and remains in clinical remission 3 months after the completion of therapy. Her neurological status remains similar to that before diagnosis with the exception of chemotherapy induced hearing loss. This is the first description a sacrococcygeal teratoma in a patient with Aicardi, as well as the first use of intensified consolidation chemotherapy in a patient with Aicardi, which was well tolerated and resulted in remission. The use of chemotherapy should be considered for all patients with AS and malignancy.

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Late Presentation of Retinoblastoma in a Teen with Aicardi Syndrome

Cited by 4 publications

References 8 publications

Unilateral Sporadic Retinoblastoma in an 11-Year-Old Child: A Rare Case Report

Unilateral Sporadic Retinoblastoma in an 11-Year-Old Child: A Rare Case Report

Adenocarcinoma of Pigmented Ciliary Epithelium in a Child With Aicardi Syndrome and Congenital Microphthalmia With Cyst

High-dose Chemotherapy is Efficacious and Well Tolerated in a Toddler With Aicardi Syndrome and Malignant Sacrococcygeal Teratoma

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