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Congenital circumscribed choroidal haemangioma associated with infantile hepatic haemangioendotheliomatosis
  1. SAAD SHAIKH,
  2. STEVEN SANISLO
  1. Department of Ophthalmology
  2. Stanford University Medical Center
  3. Department of Ophthalmology
  4. University of California, San Francisco
  5. Department of Ophthalmology and Pediatrics
  6. Stanford University Medical Center
  7. Lucille Packard Children's Hospital
  1. JOAN M O'BRIEN
  1. Department of Ophthalmology
  2. Stanford University Medical Center
  3. Department of Ophthalmology
  4. University of California, San Francisco
  5. Department of Ophthalmology and Pediatrics
  6. Stanford University Medical Center
  7. Lucille Packard Children's Hospital
  1. DEBORAH ALCORN
  1. Department of Ophthalmology
  2. Stanford University Medical Center
  3. Department of Ophthalmology
  4. University of California, San Francisco
  5. Department of Ophthalmology and Pediatrics
  6. Stanford University Medical Center
  7. Lucille Packard Children's Hospital
  1. Saad Shaikh, MD, Department of Ophthalmology, Stanford University Medical Center, Boswell A157, Stanford, CA 94305, USA saads{at}earthlink.net

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Editor,—Choroidal haemangiomas are vascular hamartomas that occur in two distinct forms, circumscribed and isolated, or diffuse, as seen in the Sturge-Weber syndrome.1 Likewise, hepatic haemangioendotheliomas are benign hamartomatous tumours composed of anastomosing vascular channels lined with endothelial cells. Infantile haemangioendotheliomas (IHE) of the liver are congenital lesions noted at birth or during the first 6 months of life. Hepatomegaly, congestive heart failure, and haemangiomas of the skin combine to form the classic symptomatic triad.2 To our knowledge, this is the first report of a congenital circumscribed choroidal haemangioma and the first noted association of a circumscribed choroidal haemangioma with a visceral neoplasm.

CASE REPORT

A 3.75 kg male with an uncomplicated prenatal history was born at full term by normal spontaneous vaginal delivery. At birth, the patient was noted to have a single 1 cm diameter cutaneous haemangioendothelioma of his left upper extremity. There was no family history of ocular diseases or any haemangiomatous syndromes. The patient's early postnatal course was complicated by hepatic and congestive heart failure. During this time, his cutaneous haemangioendotheliomas had increased in number ranging from 2 mm to 1 cm in diameter involving his right upper extremity, occiput, and chest wall. An ophthalmological examination was requested to exclude a diagnosis of LCHAD (long chain 3-hydroxyacyl coenzyme A dehydrogenase) deficiency, a disorder of mitochondrial fatty acid β oxidation, which is associated with chorioretinal abnormalities. Funduscopic examination revealed pigmentary mottling of his macula and a dulled foveal reflex bilaterally. The optic discs and vasculature were within normal limits. A diagnosis of LCHAD deficiency was not supported by further serological testing. Diagnostic imaging revealed multiple hepatic lesions associated with hepatomegaly. Subsequently, at 7 weeks of age a liver biopsy was performed which confirmed the diagnosis of multiple benign haemangioendotheliomas of the liver. Owing to progressive hepatic and congestive heart failure the patient underwent a living related liver transplantation at 6 months of age. His postoperative course was otherwise unremarkable with normal growth and development and resolution of his cutaneous haemangioendotheliomas.

On follow up ophthalmological examination at 7 months of age the patient was able to fix and follow objects bilaterally without evidence of amblyopia. Funduscopic examination, however, revealed bilateral macular pigment epithelial granularity and mottling, greater in his left eye. Re-examination at 10 months of age demonstrated persistent macular pigmentary changes in the left eye with elevation of the macula. Examination under anaesthesia was subsequently performed at 11 months of age which revealed normal anterior segment and clear crystalline lenses bilaterally. Funduscopic examination showed normal discs, vessels, and retinal periphery in both eyes. The right macula was normal without pigmentary abnormalities but the left macula revealed a raised choroidal lesion with an orange coloration and reactive pigmentary changes without retinal, detachment or subretinal fluid. On A and B-scan ultrasonography the maximum height of the lesion was 2.1 mm and the reflectivity of the lesion was high. The clinical and ultrasonographic appearance was most consistent with the diagnosis of a circumscribed choroidal haemangioma. Given the patient's normal visual acuity and absence of subretinal fluid, observation was recommended in lieu of laser or radiation therapy. Follow up examination at 15 months of age revealed normal visual acuities without progression of the lesion.

COMMENT

The pathogenesis of haemangiomas remains largely unknown. Histologically, the hepatic and cutaneous haemangioendotheliomas are composed of vascular channels lined by endothelial cells as well as cells suggestive of pericytes.3 Similar histological characteristics are shared by circumscribed choroidal haemangiomas which consist of a mixture of small (capillary) or large (cavernous) vascular channels lined by flat endothelial cells separated by connective tissue septae.1 It has been proposed that persistent arteriovenous shunts, which normally occur in great numbers during the embryogenesis of the choroidal vasculature and then regress, may play a part in the development of choroidal haemangiomas.4 Whether a similar model may apply in the development of hepatic and cutaneous haemangioendotheliomas remains speculative.

Infantile hepatic and cutaneous haemangioendotheliomas show a high incidence of spontaneous regression and therapeutic measures are recommended only when associated conditions lead to morbidity.56 Although our patient's hepatic lesion eventually required surgical intervention the natural history of these lesions combined with the patient's normal vision and lack of associated vision threatening complications justified observation. Should the choroidal lesion eventually give rise to subretinal fluid, macular detachment, and/or decreased visual acuity the patient may benefit from photocoagulation or radiation therapy. Thus, albeit rare and usually diagnosed in adulthood, circumscribed choroidal haemangiomas may present in a congenital fashion and may also be associated with visceral abnormalities of vasculogenesis.

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