Congenital cystic eye with multiple dermal appendages and intracranial congenital anomalies: report of a case

Abstract

116C ongenital cystic eye, known also as anophthalmos with cyst, is an extremely rare congenital anomaly, first described by Mann in 1939 (1). Pathogenetically, it results from an arrest in the invagination of the primary optic vesicle between the 2-mm and 7-mm stages of fetal development (2-5). Herein we present the findings of radiography, ultrasonography (US), and magnetic resonance imaging (MRI) in a unique case of congenital cystic eye associated with dermal appendages and intracranial congenital anomalies in a 3-month-old boy. Case reportA 3-month-old boy presented to our department for investigation of a large mass in the left orbital region, which had been present since birth. The boy was well developed and was otherwise in good health. Results of screening hematology and blood biochemistry tests were within normal limits. In addition to the lesion extruding from the left orbit, a few dermal appendages of the left half of the face were also noted (Fig. 1).The boy was delivered by caesarian section in the 38th week of pregnancy (because of maternal history of previous caesarian section), with a birth weight of 2800 g. There were no complications during pregnancy or delivery. The parents were healthy and unrelated, with no history of illness or drug ingestion during pregnancy. No family history of developmental abnormalities was mentioned by the parents, who also had a healthy 2-year-old boy. Ultrasonography during pregnancy was not performed, so the lesion was unanticipated at birth.Physical examination demonstrated a large mass protruding from the left orbit. Both eyelids were stretched, covering the lesion. The lower eyelid was reddish and hyperemic. The mass was soft, non-tender, nonpulsatile, and cystic in consistency; the size did not change during crying. Ophthalmological evaluation of the right eye did not demonstrate any pathological findings. Systemic evaluation (except for the brain) did not reveal other abnormalities, including congenital heart disease.Radiographs of the skull revealed a soft tissue mass of the left orbit with expansion and remodeling of the superior and lateral bony walls of the orbit (Fig. 2). No abnormalities of the chest or abdomen were noted on radiographs.US of the left orbit demonstrated a mainly cystic lesion with a maximum diameter of about 6 cm. Within the cyst, there were a few septa; there was also a solid component with a diameter of about 2.5 cm with internal small cystic areas, and arterial and venous flow signals. No eye globe was identified in the left orbit (Fig. 3). There were no US abnormalities in the abdomen.MRI of the orbits and the head demonstrated the lesion as well as abnormalities of the brain. The lesion was mainly cystic, with internal septa and a solid intracystic component which contained smaller cystic areas, ABSTRACT Congenital cystic eye (anophthalmia with cyst) is an extremely rare anomaly discovered at birth with few reported cases in the literature, resulting from partial or complete failure during invagination of the primary optic vesicle...

Congenital Cystic Eye with Corpus Callosum Hypoplasia: MRI Findings

“…The absence of optic nerve has been observed in most of the previously reported cases of congenital cystic eye 3 . However, Baghdassarian et al 13 and Tsitouridis et al 2 , as in our case, could identify an optic nerve-like structure that was continuous with neuroglial tissue in the posterior aspect of the cyst.…”

“…Total surgical resection remains the treatment of choice for theses lesions. ymicrogyria, midbrain deformity and grey matter heterotopias [2][3][4]10 . Non-ocular abnormalities are more frequent when there is bilateral ocular involvement.…”

Rare orbital cystic lesions in children

“…The notable histopathologic findings include the lack of normal ocular structures and the presence of a cyst lined by neuroglial tissue. Reported nonocular abnormalities such as facial clefting, saddle nose, agenesis of the corpus callosum, midbrain deformity, and bifid thumb may occur (Chaudhry et al, 2007;Tsitouridis et al, 2010). Congenital cystic eye can be confused with microphthalmos with cyst.…”

“…It is an extremely rare ocular malformation caused by an arrest in the invagination of the primary optic vesicle between the 2-and 7-mm stages of fetal development (Hayashi et al, 1999). It is usually a nonhereditary, unilateral disorder with no sexual preponderance and is evident at birth as a cystic lesion filling the orbit, located behind the upper or lower eyelid without any evidence of an eyeball (Tsitouridis et al, 2010). The notable histopathologic findings include the lack of normal ocular structures and the presence of a cyst lined by neuroglial tissue.…”

“…There was a bony defect between the right orbit and cranial structures. upper eyelid, which tends to occur in the congenital cystic eye, whereas protrusion of the lower eyelid usually occurs in microphthalmos with cyst (Hayashi et al, 1999;Chaudhry et al, 2007;Tsitouridis et al, 2010). Surgical removal of the lesion with placement of a ball implant is usually the treatment of choice for congenital cystic eye.…”