Chronic papilledema in a child with classical tuberous sclerosis.

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome manifesting as hamartomas in various organs.[12] Vision loss in patients with TSC may occur due to astrocytic hamartoma affecting macula or Optic nerve.[3] Rarely papilledema due to supbependymal nodule may result in bilateral pale disc and subsequent vision loss. We report a patient with vision loss due to papilledema secondary to subependymal nodule.

Case Report

A 8-year-old boy presented with painless decreased vision in both eyes. The child was mentally challenged with intelligent quotient of 33 and was on antiepileptic medications for generalized tonic–clonic seizures. The child had facial angiofibromas [Fig. 1] and ash-leaf macule [Fig. 2]. Vision could not be assessed due to poor co-operation. Anterior segment examination was within normal limits. Fundus examination revealed bilateral disc pallor with multiple retinal astrocytomas [Fig. 3]. Magnetic resonance imaging demonstrated dilated ventricular system, cortical tubers [Fig. 4], and subependymal nodules [Fig. 5]. Guarded visual prognosis was explained in view of chronic optic neuropathy.

Figure 1

(1) External photograph demonstrating multiple small, raised, hyperpigmented papules, and nodules distributed all over the face.

Figure 2

(2) External photography demonstrating a hypopigmented macule of the face – ash-leaf shaped (round at one end and tapered at the other) suggestive of ash-leaf macule (arrow)

Figure 3

Colored fundus photograph demonstrating pale disc and multiple retinal astrocytomas involving posterior pole and disc (block arrow)

Figure 4

(4) Axial T2-weighted magnetic resonance image shows dilated ventricles and a hyperintense lesion suggestive of cortical tubers (block arrow).

Figure 5

(5) Axial T1-weighted magnetic resonance image shows a subependymal nodule (block arrow) characterized by an increase in signal intensity indenting the lateral wall of lateral ventricle

Comment

Von Recklinghausen first described tuberous sclerosis complex (TSC).[1] About two-third of the cases are sporadic in nature while one-third cases have autosomal dominant inheritance pattern.[2] TSC is characterized by facial angiofibromas, ash-leaf spots, cardiac rhabdomyoma, renal angiomyolipoma, and retinal astrocytic hamartomas.[2] Our patient presented with the classical Vogt triad of mental retardation, epilepsy, and adenoma sebaceum.[3] Genetic testing was not done and hence inheritance pattern could not be clearly ascertained. However, family history of similar condition was not noted.

Retinal astrocytic hamartomas occur in about 50% of patients, and in 50% of patients, it is bilateral.[2] Our patient presented with bilateral multiple, small, sessile noncalcified mass lesions at the posterior pole. However, the cause of poor vision in our patient was assigned to optic neuropathy secondary to chronic papilledema. A report by Chong et al. has demonstrated that timely excision of the mass lesion from the foramen of Munro resulted in resolution of papilloedema and restoration of vision.[4] Due to delayed presentation and lack of ophthalmic referral, visual outcome in our patient was poor.

Conclusion

Vision loss in tuberous sclerosis can occur due to secondary optic neuropathy. Regular ophthalmic examination is necessary to avoid irreversible visual loss.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parents have given consent for images and other clinical information to be reported in the journal. The patient's parents understand that name and initial will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.