Association of Nephropathic Cystinosis and Pseudotumor Cerebri with Bilateral Duane Syndrome Type I

Abstract

A 15-year-old girl, a known case of nephropathic cystinosis with a history of kidney transplantation, presented for evaluation of lid drooping in lateral gaze and a recent-onset headache. Examination of ocular movements showed bilateral limitation of abduction combined with narrowing of palpebral fissure in adduction. Deposition of polychromatic crystals in the conjunctiva and corneal stroma of both eyes was evident. Both optic discs were oedematous and intracranial pressure was 270 mm CSF, which responded to oral acetazolamide. The patient developed metabolic imbalances and multiple organ failure, from which she expired 3 months after presentation.

Coexistence of Idiopathic Intracranial Hypertension with Unilateral Duane Retraction Syndrome Type 1 in an Adult Female

“…Tillman et al [ 6 ] reported the first association between pseudotumor cerebri, DRS type 1, and Goldenhar's syndrome in a young boy. Similarly, Behdad et al [ 2 ] reported pseudotumor cerebri coexisting with bilateral DRS type I and nephropathic cystinosis in a young teenage girl. While our patient had renal transplant for unknown cause, the absence of ocular signs for cystinosis makes the possibility of nephropathic cystinosis in our case unlikely.…”

“…Moreover, IIH development on long-term use of maintenance steroid therapy or increased dose has also been described [ 1 ]. Furthermore, IIH has also been linked to renal failure and renal transplant recipients in several studies [ 2 , 3 ]. Because of the usage of corticosteroids, excessive weight gain, the presence of anaemia, and hypercoagulability, renal transplant patients are thought to be at increased risk [ 3 ].…”

“…In DRS type I, there is marked restriction or the absence of abduction, normal or slightly defective adduction, narrowing of the palpebral fissure on adduction, widening of the palpebral fissure on abduction [ 5 ]. There is no evidence that IIH and DRS are related; however, there have been reports of IIH and DRS co-occurring in paediatric age group [ 2 , 6 ]. Tillman et al [ 6 ] reported the first association between pseudotumor cerebri, DRS type 1, and Goldenhar's syndrome in a young boy.…”

Intracranial Hypertension and Nephropathic Cystinosis in Monozygotic Twins

“…Nephropathic cystinosis leads to progressive renal failure requiring renal transplant and extrarenal manifestations including corneal crystal deposition. Rarely, cerebral involvement including IIH has been reported in association with cystinosis, with 11 total cases in the literature (3)(4)(5)(6). The incidence of IIH and cystinosis occurring separately in the general population is 1.8 per 100,000 and w1 per 150,000, respectively.…”