Retinal dysplasia, megalencephaly, and neurocutaneous vascular telangiectasia - Relationship to phakomatosis/hamartoha syndromes

Charles Specht, J. H. Varga, H. V. Tellado, J. A. Roth

Research output: Contribution to journalArticle

Abstract

Purpose. To describe unique abnormalities of the retina, brain and skin observed in a dysmorphic infant who expired 24 hours after birth; to compare the findings with previously described phakomatosis/hamartoma syndromes. Methods. This male infant was the product of a normal pregnancy. The mother had a pignented hairy nevus and a flat hemangioma of the skin but was otherwise had a normal Giemsa-banded karyotype. The face and skull were dysmorphic; the somatic skeleton was normal by whole body radiography. Formalin fixed eye and skin tissues, and formalinacetic acid fixed brain tissues, were processed into paraffin. Histological sections were cut at 6 micron thickness and studied with hematoxylin-eosin. Selected sections were stained with periodic acid-Schiff, Masson trichrome, phosphotungstic acid-hematoxylin, Bodian silver, or with inmunohistochemistry for neuron specific enolase or glial fibrillary acidic protein. Results. Eyes - retinal dysplasia with rosettes, retinal glial hamartomas, optic disc swelling. Brain - megalencephaly, polymicrogyria, thickened, corpts callosum with cavum septum pellucidum, neuronal heterotopia, vascular telangiectasis. Skin - vascular telangiectasia. Conclusions. Retinal dysplasia, megalencephaly/neuronal cytoarchitectural abnormalities, and neurocutaneous vascular telangiectasia have not been previously associated. The retina/brain findings suggest defective neuronal type of phakomatosis/hamartoma syndrome.

Original languageEnglish (US)
JournalInvestigative Ophthalmology and Visual Science
Volume37
Issue number3
StatePublished - Feb 15 1996

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Retinal Dysplasia
Megalencephaly
Neurocutaneous Syndromes
Telangiectasis
Hamartoma
Blood Vessels
Skin
Brain
Hematoxylin
Retina
Septum Pellucidum
Phosphotungstic Acid
Periodic Acid
Phosphopyruvate Hydratase
Nevus
Glial Fibrillary Acidic Protein
Optic Disk
Hemangioma
Eosine Yellowish-(YS)
Karyotype

All Science Journal Classification (ASJC) codes

  • Ophthalmology

Cite this

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title = "Retinal dysplasia, megalencephaly, and neurocutaneous vascular telangiectasia - Relationship to phakomatosis/hamartoha syndromes",
abstract = "Purpose. To describe unique abnormalities of the retina, brain and skin observed in a dysmorphic infant who expired 24 hours after birth; to compare the findings with previously described phakomatosis/hamartoma syndromes. Methods. This male infant was the product of a normal pregnancy. The mother had a pignented hairy nevus and a flat hemangioma of the skin but was otherwise had a normal Giemsa-banded karyotype. The face and skull were dysmorphic; the somatic skeleton was normal by whole body radiography. Formalin fixed eye and skin tissues, and formalinacetic acid fixed brain tissues, were processed into paraffin. Histological sections were cut at 6 micron thickness and studied with hematoxylin-eosin. Selected sections were stained with periodic acid-Schiff, Masson trichrome, phosphotungstic acid-hematoxylin, Bodian silver, or with inmunohistochemistry for neuron specific enolase or glial fibrillary acidic protein. Results. Eyes - retinal dysplasia with rosettes, retinal glial hamartomas, optic disc swelling. Brain - megalencephaly, polymicrogyria, thickened, corpts callosum with cavum septum pellucidum, neuronal heterotopia, vascular telangiectasis. Skin - vascular telangiectasia. Conclusions. Retinal dysplasia, megalencephaly/neuronal cytoarchitectural abnormalities, and neurocutaneous vascular telangiectasia have not been previously associated. The retina/brain findings suggest defective neuronal type of phakomatosis/hamartoma syndrome.",
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Retinal dysplasia, megalencephaly, and neurocutaneous vascular telangiectasia - Relationship to phakomatosis/hamartoha syndromes. / Specht, Charles; Varga, J. H.; Tellado, H. V.; Roth, J. A.

In: Investigative Ophthalmology and Visual Science, Vol. 37, No. 3, 15.02.1996.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Retinal dysplasia, megalencephaly, and neurocutaneous vascular telangiectasia - Relationship to phakomatosis/hamartoha syndromes

AU - Specht, Charles

AU - Varga, J. H.

AU - Tellado, H. V.

AU - Roth, J. A.

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N2 - Purpose. To describe unique abnormalities of the retina, brain and skin observed in a dysmorphic infant who expired 24 hours after birth; to compare the findings with previously described phakomatosis/hamartoma syndromes. Methods. This male infant was the product of a normal pregnancy. The mother had a pignented hairy nevus and a flat hemangioma of the skin but was otherwise had a normal Giemsa-banded karyotype. The face and skull were dysmorphic; the somatic skeleton was normal by whole body radiography. Formalin fixed eye and skin tissues, and formalinacetic acid fixed brain tissues, were processed into paraffin. Histological sections were cut at 6 micron thickness and studied with hematoxylin-eosin. Selected sections were stained with periodic acid-Schiff, Masson trichrome, phosphotungstic acid-hematoxylin, Bodian silver, or with inmunohistochemistry for neuron specific enolase or glial fibrillary acidic protein. Results. Eyes - retinal dysplasia with rosettes, retinal glial hamartomas, optic disc swelling. Brain - megalencephaly, polymicrogyria, thickened, corpts callosum with cavum septum pellucidum, neuronal heterotopia, vascular telangiectasis. Skin - vascular telangiectasia. Conclusions. Retinal dysplasia, megalencephaly/neuronal cytoarchitectural abnormalities, and neurocutaneous vascular telangiectasia have not been previously associated. The retina/brain findings suggest defective neuronal type of phakomatosis/hamartoma syndrome.

AB - Purpose. To describe unique abnormalities of the retina, brain and skin observed in a dysmorphic infant who expired 24 hours after birth; to compare the findings with previously described phakomatosis/hamartoma syndromes. Methods. This male infant was the product of a normal pregnancy. The mother had a pignented hairy nevus and a flat hemangioma of the skin but was otherwise had a normal Giemsa-banded karyotype. The face and skull were dysmorphic; the somatic skeleton was normal by whole body radiography. Formalin fixed eye and skin tissues, and formalinacetic acid fixed brain tissues, were processed into paraffin. Histological sections were cut at 6 micron thickness and studied with hematoxylin-eosin. Selected sections were stained with periodic acid-Schiff, Masson trichrome, phosphotungstic acid-hematoxylin, Bodian silver, or with inmunohistochemistry for neuron specific enolase or glial fibrillary acidic protein. Results. Eyes - retinal dysplasia with rosettes, retinal glial hamartomas, optic disc swelling. Brain - megalencephaly, polymicrogyria, thickened, corpts callosum with cavum septum pellucidum, neuronal heterotopia, vascular telangiectasis. Skin - vascular telangiectasia. Conclusions. Retinal dysplasia, megalencephaly/neuronal cytoarchitectural abnormalities, and neurocutaneous vascular telangiectasia have not been previously associated. The retina/brain findings suggest defective neuronal type of phakomatosis/hamartoma syndrome.

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