Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder
Encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous syndrome is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation, calcification, lipomas of skull, ey...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2017-10-01
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| Series: | Delhi Journal of Ophthalmology |
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| Online Access: | https://journals.lww.com/10.7869/djo.265 |
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| author | Kirti Singh Mainak Bhattacharyya Keerti Wali Virendra Jain Seema Kapoor Sumit Kumar |
| author_facet | Kirti Singh Mainak Bhattacharyya Keerti Wali Virendra Jain Seema Kapoor Sumit Kumar |
| author_sort | Kirti Singh |
| collection | DOAJ |
| description | Encephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous syndrome is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation, calcification, lipomas of skull, eye, heart, connective tissue nevi along with alopecia. This case highlights the condition in a 4 day old male child who presented with bilateral red eye with mass lesion. Complete evaluation showed conjunctival hyperemia, lipodermoids with corneal vascularisation and healed choroiditis patches OD. Systemic work up revealed ipsilateral nevus psiloliparus, and undescended testis with megalourethra. Radiologic evaluation showed revealed diffuse cerebral atrophy, subarachnoid cyst in right temporal region along with dysplastic cortex, enlargement of both ventricular system and extra-axial CSF spaces along with marked atrophy of right antero-inferior temporal parenchyma. Child was managed conservatively and over a one year follow up the ocular condition remained unchanged with OU limbal lipodermoids and no conjunctival congestion. |
| format | Article |
| id | doaj-art-3570aa7927094ad4b3fc014e267b616c |
| institution | OA Journals |
| issn | 0972-0200 2454-2784 |
| language | English |
| publishDate | 2017-10-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Delhi Journal of Ophthalmology |
| spelling | doaj-art-3570aa7927094ad4b3fc014e267b616c2025-08-20T02:10:57ZengWolters Kluwer Medknow PublicationsDelhi Journal of Ophthalmology0972-02002454-27842017-10-0127427427610.7869/djo.265Encephalocraniocutaneous Lipomatosis: Case Report of a Rare DisorderKirti SinghMainak BhattacharyyaKeerti WaliVirendra JainSeema KapoorSumit KumarEncephalocraniocutaneous lipomatosis (ECCL), a rare neurocutaneous syndrome is characterized by profound mental retardation, early onset of seizures, unilateral temporofrontal lipomatosis, ipsilateral cerebral and leptomeningeal lipomatosis, cerebral malformation, calcification, lipomas of skull, eye, heart, connective tissue nevi along with alopecia. This case highlights the condition in a 4 day old male child who presented with bilateral red eye with mass lesion. Complete evaluation showed conjunctival hyperemia, lipodermoids with corneal vascularisation and healed choroiditis patches OD. Systemic work up revealed ipsilateral nevus psiloliparus, and undescended testis with megalourethra. Radiologic evaluation showed revealed diffuse cerebral atrophy, subarachnoid cyst in right temporal region along with dysplastic cortex, enlargement of both ventricular system and extra-axial CSF spaces along with marked atrophy of right antero-inferior temporal parenchyma. Child was managed conservatively and over a one year follow up the ocular condition remained unchanged with OU limbal lipodermoids and no conjunctival congestion.https://journals.lww.com/10.7869/djo.265encephalocraniocutaneous lipomatosisneurocuatenouslipodermoidcerebral atrophy |
| spellingShingle | Kirti Singh Mainak Bhattacharyya Keerti Wali Virendra Jain Seema Kapoor Sumit Kumar Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder Delhi Journal of Ophthalmology encephalocraniocutaneous lipomatosis neurocuatenous lipodermoid cerebral atrophy |
| title | Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder |
| title_full | Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder |
| title_fullStr | Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder |
| title_full_unstemmed | Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder |
| title_short | Encephalocraniocutaneous Lipomatosis: Case Report of a Rare Disorder |
| title_sort | encephalocraniocutaneous lipomatosis case report of a rare disorder |
| topic | encephalocraniocutaneous lipomatosis neurocuatenous lipodermoid cerebral atrophy |
| url | https://journals.lww.com/10.7869/djo.265 |
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