Lymphoedema-distichiasis syndrome

Description

A 29-year-old woman with a history of renal cysts, hypertension and lymphoedema-distichiasis syndrome, was referred to ophthalmology, with bilateral blurred vision, hyperaemia and ocular pain, developed over months.

The patient had no positive family history for lymphoedema-distichiasis or other diseases.

Clinical examination revealed stunted height (144 cm), neck webbing (figure 1), bilateral and asymmetric lymphoedema (figure 2), bilateral distichiasis (figure 3) and keratitis (figure 4). Other ocular manifestations of lymphoedema-distichiasis, such as ptosis and strabismus, were excluded through ophthalmological examination.

Figure 1

Patient's neck webbing.

Figure 2

Bilateral and asymmetrical lymphoedema, which the patient presented since puberty, with progressive worsening and episodes of cellulitis.

Figure 3

Inferior distichiasis.

Figure 4

Discrete inferior keratitis.

Spinal MRI revealed multiple arachnoidal extradural cysts...

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