Orbital Cyst: Prenatal Diagnosis

Singh, Arun D.; Traboulsi, Elias I.; Reid, Janet R.; Patno, Donna; Chapa, Jeffrey; Rodríguez, Ricardo; Iben, Sabine; Schoenfield, Lynn

doi:10.1016/j.ophtha.2009.06.032

Cited by 12 publications

(4 citation statements)

References 5 publications

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“…Differential diagnosis includes: orbital teratoma, haemangioma, meningocel, lymphangioma [5] Sometimes the diagnosis may be delayed because of that differential diagnosis which may worsen the prognosis.…”

Section: Discussionmentioning

confidence: 99%

Giant Orbital Rhabdomyosarcoma in a Newborn: Case Report

Amri¹,

Bennani²,

Belmekki³

2022

AJP

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Rhabdomyosarcoma is the single most common type of soft tissue sarcoma in childhood and teenage, it has been reported from birth to the seventh decade, with the majority of cases presenting in early childhood but it is very rare in neonates. The orbit including the eyelids is the usual primary site in the head and neck, and it is a highly malignant tumor. There have been only a few cases of congenital orbital rhabdomyosarcoma previously reported in the literature. We report a case of a newborn girl that was admitted in our structure 2 days after her birth with giant right orbital mass inducing proptosis that was discovered at birth. MRI showed a poorly defined mass but biopsy of the tumor confirmed the diagnosis of Rhabdomyosarcoma. Chemotherapy was started accordingly with VAC regimen with a good evolution under treatment infortunatly the patient died at four month old from an infectious disease because she doen't receive any vaccination. Congenital RMS has a poor prognosis and must benefit from a multidisciplinary approach. Children with cancer need to be immunized against the common vaccine-preventable diseases sometimes during ongoing chemotherapy to increase their chance of survival. Prenatal diagnosis may also improve the prognosis of these patients.

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Section: Discussionmentioning

confidence: 99%

Giant Orbital Rhabdomyosarcoma in a Newborn: Case Report

Amri¹,

Bennani²,

Belmekki³

2022

AJP

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“…However, this method can only diagnose whether the fetus has inherited a genetic mutation from the parent; it is not possible to predict the severity of the condition in an affected pregnancy, because of variability of gene expression. Obstetric ultrasound images were the foundation to understand fetal orbital anatomy, and some studies have reported that standard ultrasound can be used to antenatally detect anophthalmia (Chen et al, ), microphthalmia (Leung et al, ), retinoblastoma (Lehman, ), orbital cyst (Singh et al, ), persistent hyperplastic primary vitreous (Esmer et al, ), cataract (Ashwal et al, ), and retinal detachment (Shen, Zuckerman, Cohen, & Rabinowitz, ). Therefore, we advised transabdominal ultrasonography for the pregnant mothers described here to determine the fetal eye development and presence/absence of severe fetal ocular pathologies.…”

Section: Discussionmentioning

confidence: 99%

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease

Liu

Zhu

Jy³

et al. 2018

Molec Gen & Gen Med

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Background Both familial exudative vitreoretinopathy (FEVR) and Norrie disease (ND) are hereditary retinal disorders which can cause severe visual impairment and blindness at a young age. The present study aimed to report the use of antenatal genetic testing and ultrasound in the diagnosis and counseling of FEVR and ND. Methods Amniocentesis and ultrasonography were performed in high‐risk mothers, with children having FEVR or ND, to predict severe ocular abnormalities. Results Case 1: A homozygous NDP mutation (c.376T>C, NM_000266) was detected in the proband and his mother. Molecular prenatal analysis of the fetal DNA revealed no mutations. No ocular abnormalities were detected on ultrasonography. The pregnancy progressed uneventfully to a normal outcome. Case 2: A novel heterozygous FZD4 mutation (c.1010dupA, NM_012193) was detected in the proband and his mother. The same mutation was detected in the fetus, but ultrasonography showed no ocular abnormalities. A healthy baby boy with stage 1 FEVR was born after an uneventful pregnancy. Case 3: Deletions of exons 2 and 3 in the NDP were found in the proband and his mother. The same deletion mutation was detected in the female fetus, but the ultrasound scan was normal. The pregnancy progressed uneventfully to a normal outcome. Conclusions To our knowledge, antenatal genetic analyses were used in conjunction with ultrasound for the first time, to diagnose FEVR and ND, and predict the postnatal prognoses in at‐risk babies.

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“…The differential diagnosis includes orbital teratoma, lymphangioma, hemangioma, meningocele, epithelial cyst, and RMS [4]. …”

Section: Discussionmentioning

confidence: 99%

Congenital Orbital Rhabdomyosarcoma

2017

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Rhabdomyosarcoma (RMS) is the most common malignant tumor of the orbit in children, but it is rarely present at birth. We report a large congenital orbital RMS with intracranial extension in a newborn baby. A newborn baby girl was referred to our hospital due to severe right-eye exophthalmia. Imaging studies showed an orbital mass with intracranial extension. Treatment was started with a course of neoadjuvant chemotherapy followed by right orbital exenteration and intracranial resection of the tumor. Histologic examination of the mass showed undifferentiated malignant small-cell tumor. Immunohistochemical study proved it to be RMS. The patient was categorized as intermediate-risk RMS and chemotherapy was continued accordingly with VAC regimen. In spite of treatment, the infant developed intracranial recurrence at the age of 6 months and died 1 month later. Congenital orbital RMS has a poor prognosis. Reconstruction surgery should be deferred due to high rate of recurrence and low chance of survival. A multidisciplinary approach might increase the survival of these patients.

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Orbital Cyst: Prenatal Diagnosis

Cited by 12 publications

References 5 publications

Giant Orbital Rhabdomyosarcoma in a Newborn: Case Report

Giant Orbital Rhabdomyosarcoma in a Newborn: Case Report

Prenatal diagnosis of familial exudative vitreoretinopathy and Norrie disease

Congenital Orbital Rhabdomyosarcoma

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