Tuberous sclerosis in a 17-year-old female
Ernesto D. Golez III, MD, Richard C. Kho, MD
TUBEROUS sclerosis complex (TSC) is a multisystemic and neurocutaneous, autosomal-dominant disorder characterized by hamartomatous growths that occur mostly in the skin, brain, kidneys, heart, and eyes. The
classic triad of this disorder described by Vogt in 1908 includes epilepsy, mental retardation, and adenoma
sebaceum. Its clinical manifestations are now known to be more diverse and inclusive. Comprehensive diagnostic criteria set out initially by Gomez in 1988 now form the consensus statements from the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association (USA)1 (Table 1). Diagnosis of TSC is confirmed if one or two major features plus two minor features are met. Diagnosis of TSC is probable when one major and one minor feature are met. If either one major feature or two or more minor features are met, possible diagnosis of TSC may be considered. This patient presented with a 4-month history of gradual progressive blurring of vision associated with diplopia, esotropia, and occasional eye pain, particularly left temporal headache radiating to the occipital area. He
satisfied 8 of the criteria: facial angiofibromas or forehead plaque, hypomelanotic macules (>3), shagreen patch, renal angiomyolipoma, cortical tuber, subependymal nodule, subependymal giant-cell astrocytoma (main cause of symptoms), and retinal hamartoma. These findings were confirmed by the dermatology, renal, neurosurgery, and ophthalmology services. Ophthalmic features of TSC may be divided into retinal
and nonretinal.2 Retinal features were first described by Van der Hoeve in 1921 who termed these lesions phakomas (Greek for spot), and thus introduced the concept of phakomatosis.3 These retinal lesions, now known as retinal hamartomas, are the best-known ocular manifestations of TSC. Nonretinal features are less common. In this patient, there was a cortical cataract in the left eye and papillidema in both eyes. Only 3 cases of cataract associated with TSC have been reported.4, 5 The papilledema was due to the increased intracranial pressure caused by the astrocytoma blocking cerebrospinal fluid (CSF) at the level of the foramen of Monroe. The patient underwent aggressive intracranial-pressure (ICP) lowering initially, followed by right paramedian
craniotomy and excision of tumor. Intraoperative findings showed a highly vascular, grayish cystic, and pinkish-white tumor embedded at the septum and at the anterior horn. Histopathological results confirmed subependymal giantcell astrocytoma. Prior to surgery, the patient’s vision deteriorated to “no light perception” in both eyes. The operation was done to prevent further seizures and relieve the headaches.
Thus, prompt diagnosis is recommended so that early and appropriate management can be instituted to prevent vision loss.
References
1. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-628.
2. Rowley SA, O’Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: a population based study. Br J Ophthalmol 2001; 85: 420-423.
3. Van der Hoeve J. Augengeschwults e bei der tuberosen Hirnsklerose (Bourneville). Albrecht von Graefes Arch Klin Ophthalmol 1921; 105: 880-898.
4. Warner JE, Lessell S. Cataract in tuberous sclerosis. J Neuroophthalmol 1997; 17: 33-35.
5. Gündüz K, Eagle RC, Shields CL, et al. Invasive giant-cell astrocytoma of the retina in a patient with tuberous sclerosis. Ophthalmology 1999; 106: 639-642.