Intraocular Astrocytoma without Phacomatosis

Redinová, M; Baráková, D; Šach, J; Kuchynka, P

doi:10.1177/112067210401400414

Cited by 5 publications

(3 citation statements)

References 12 publications

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“…This patient was previously published as an isolated case of HME with intractable seizures, developmental delay, and failure to thrive [Towbin et al, 1988]. However, at 11 years of age, he was referred to the Tuberous Sclerosis Clinic because of a retinal astrocytoma, a finding which is most often seen in the context of TSC [O'Shea and Powers, 1991; Leroy et al, 1996; Redinova et al, 2004]. He had remained seizure‐free for several years post‐operatively.…”

Section: Resultsmentioning

confidence: 99%

Epidemiology of hemimegalencephaly: A case series and review

Tinkle

Schorry

Franz

et al. 2005

American J of Med Genetics Pt A

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Hemimegalencephaly (HME) is a congenital brain malformation characterized by unilateral enlargement of the cerebral hemisphere. Clinically, HME is typically associated with hemiparesis, psychomotor retardation, and intractable seizures usually apparent soon after birth. HME is often an isolated finding, but it has been described as an occasional feature of a large number of syndromes, many of which may not be readily identified at birth. There are a multitude of case series and reports of HME in the English literature; however, there is no comprehensive, unbiased, detailed survey characterizing the proportion of cases of HME that are associated with a syndrome. We performed a retrospective study of all cases of HME seen at our institution from 1990 to 2003. Of the 15 cases of HME identified, 53% (8/15) were non-syndromic and 47% (7/15) of the cases were associated with a known or suspected genetic syndrome. In patients with syndromic HME, many of the syndromic features were not readily discernible at birth or in early infancy. It is, therefore, imperative to continually evaluate any infant with HME for signs and symptoms of these and other syndromes. Knowing the relative differential diagnosis will lead to a more comprehensive evaluation, improvement in expectant management, and appropriate counseling of families before considering radical surgical options such as hemispherectomy.

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Section: Resultsmentioning

confidence: 99%

Epidemiology of hemimegalencephaly: A case series and review

Tinkle

Schorry

Franz

et al. 2005

American J of Med Genetics Pt A

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“…On the other hand, the lesion we described did not show any clinical peculiarities typical of astrocytic hamartoma such as the presence of calcification and an association with tuberous sclerosis or neurofibromatosis. Nevertheless, the isolated presence of retinal astrocytic proliferation without phacomatoses has been reported previously 4 …”

Section: Discussionmentioning

confidence: 83%

Retinal astrocytic hamartoma and Stargardt's disease: unusual association in a patient with ABCR mutation without phacomatosis

Bini¹,

Sodi²,

Passerini

et al. 2007

Clinical Exper Ophthalmology

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We report the unusual association of a retinal astrocytic hamartoma and Stargardt's disease in a patient with ABCR mutation. A healthy 24-year-old man exhibited the typical fundus appearance of Stargardt's disease in both eyes, associated with a white, well-circumscribed, elevated lesion in the inferotemporal area of the right eye. Molecular genetic examination of the ABCR gene detected three heterozygous missense mutations, described in the literature in association with Stargardt's disease. Optical coherence tomography, fluorangiography, electroretinography and B scan ultrasonography were performed. The clinical findings were consistent with the diagnosis of retinal astrocytic hamartoma. The connection between Stargardt's disease and this tumour has never been previously reported. The astrocytic hamartoma of our patient showed unusual clinical features. This association is probably incidental.

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“…This prompted a literature search where we found no cases of solitary astrocytoma in this age group. 25 , 26 , 27 Retinocytomas are on a spectrum with retinoblastoma and are treated when active.…”

Section: Discussionmentioning

confidence: 99%