ABSTRACT
A 25-year-old man presented with decreased vision in the left eye with hypopigmented elevated subretinal lesion over the optic disk with abnormal vasculature, subretinal and retinal hemorrhages, and fluid in the macula. An area of high spike over the disk with corresponding orbital shadowing was seen on B scan ultrasonography. Fundus fluorescein angiography revealed abnormal vasculature. Systemic examination revealed facial angiofibroma, ashleaf spot, and dental pits with multiple cortical tubers on CT brain. Intravitreal injection of bevacizumab led to visual and tomographic improvement. Abnormal retinal vascularization and exudation in young individuals may be a presenting feature in tuberous sclerosis.
ABSTRACT
Tuberous sclerosis is a inherited systemic disorder which is well known as classic triad of epilepsy, adenoma sebaceum and mental retardation. Fifty to eighty-seven percent of patients with this disorder manifest retinal hamartoma in eyeball, but this tumor is known to be never malignant and rarely cause blindness. This is a very unusual case that retinal hamartoma of 5-year old boy with tuberous sclerosis was complicated with neovascular glaucoma, vitreous hemorrhage, and cataract, and that very severe ocular pain and visual loss developed. We resected the tumor through pars plana vitrectomy but the tumor recurred in 3 weeks, and the affected eye was finally enucleated. However, there were no malignant findings and only benign findings of hamartoma which is composed of astrocyte with long process, oval nuclei and eosinophilic cytoplasm on histologic examination. So we report this unusual case with review of available literature.
Subject(s)
Child, Preschool , Humans , Male , Astrocytes , Blindness , Cataract , Cytoplasm , Eosinophils , Epilepsy , Glaucoma, Neovascular , Hamartoma , Intellectual Disability , Retinaldehyde , Tuberous Sclerosis , Vitrectomy , Vitreous HemorrhageABSTRACT
Tuberous sclerosis is a rare multisystem syndrome characterized by hamartomatous tumors of the brain, skin, viscera, and eye. The diagnostic triad for this disease, proposed by Vogt, included epilepsy, mental retardation, and adenoma sebaceum. In eyes, retinal hamartomas and optic nerve phacoma are observed over 50% and hypopigmented areas of peripheral retina and iris are often found. We introduce an 18-year old girl with adenoma sebaceum of the face, history of epilepsy and insignificant mental retardation status. She also had a retinal hamartoma in her right eye, optic nerve phacoma in her left eye, shagreen patch on lumbosacral area, angiomyolipoma of both kidneys, periventricular subependymal nodules and calcified cortical nodule of occipital lobe of brain.
Subject(s)
Adolescent , Female , Humans , Angiomyolipoma , Brain , Epilepsy , Hamartoma , Intellectual Disability , Iris , Kidney , Occipital Lobe , Optic Nerve , Retina , Retinaldehyde , Skin , Tuberous Sclerosis , VisceraABSTRACT
Tuberous sclerosis is a heredofamilial disease associated with the diagnostic triad of epilepsy, mental retardation, and skin lesions, adenoma sebaceum. Retinal hamartomas are the most common ocular abnormalities in patients with tuberous sclerosis and are classified as three types: 1) large whitish calcified nodular masses, 2) flat transluscent noncalcified smooth tumors, and 3) intermediate type. We introduce a case on 22 year-old male of tuberous sclerosis who was manifested by epilepsy, adenoma sebaceum without mental retardation. And he was characterized by multiple flat transluscent noncalcified type of retinal astrocytic hamartoma accompanied by Shagreen patch, sclerotic calcification in skull and angiomyolipoma on both kidneys.
Subject(s)
Humans , Male , Young Adult , Angiomyolipoma , Epilepsy , Hamartoma , Intellectual Disability , Kidney , Retinaldehyde , Skin , Skull , Tuberous SclerosisABSTRACT
Objective To describe CT and MRI imaging findings of retinal hamartomas with tuberous sclerosis and evaluate their clinical value.Design Retrospective case series.Participants 7 patients of tuberous sclerosis complex(TSC) who have ocular lesions found with CT and MRI examination.Methods 7 patients with tuberous sclerosis were diagnosed by clinical data and head CT.The size,morphology,density and enhancing situation of the retinal lesions were observed with CT and MRI,as while as with direct or indirect fundoscopy.Main Outcome Measures CT and MRI features of ocular lesions.Results 7 cases displayed intracranial calcification and/or non-calcified tubercles,situating in subendyma(7 cases,accounting for 100%) by head CT.Orbital CT and MRI showed 4 cases (57.1%) of flat retinal hamartomas 3 cases(42.9%) of retinal lobular and nodular hamartomas,2 cases(28.6%) scattered calcification patches in hamartoma,and 2 cases(28.6%) of nanophthalmos.The lesions displayed unenhancement on contrast-enhanced MR images in 7 cases(100%).There was 1 case(14.3%) of progressive retinal astrocytic hamartoma.Conclusion The examination of CT and MRI may find the bigger retinal hamartomas,which can play a very important role at the diagnosis with the help of whole brain examination. For progressive retinal astrocytic hamartoma,systemic evaluation with CT and MRI can provide evidence for choosing appropriate thera- pies.
ABSTRACT
Subependymal giant cell astrocytoma is a very rare cerebral glioma and is known to be usually associated with tuberous sclerosis. We experienced a case of this tumor occurred at the wall of both lateral ventricles near the foramen of Monro in a patient of tuberous sclerosis who had symtoms and signs of hydrocephalus and other complex manifestations of facial adenoma sebaceum, huge fibroma on occipital scalp and hamartoma on the right retina. The masses were removed completely through transcallosal approach with microsurgical technique. The literatures are also reviewed.