Idiopathic intracranial hypertension in cystinosis

Dogulu, Cigdem F.; Tsilou, Ekaterini; Rubin, Betty L.; FitzGibbon, Edmond J.; Kaiser-Kupper, Muriel I; Rennert, Owen M.; Gahl, William A.

doi:10.1016/j.jpeds.2004.06.080

Cited by 57 publications

(37 citation statements)

References 41 publications

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“…Another aspect of cerebral involvement in cystinosis is idiopathic intracranial hypertension, or pseudotumor cerebri, presenting as headache, papilledema and ophthalmoplegia [96]. Examination of the cerebrospinal fluid (CSF) gives normal findings, except for elevated pressure.…”

Section: Late Disease Complicationsmentioning

confidence: 99%

Nephropathic cystinosis: late complications of a multisystemic disease

2008

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Cystinosis is a rare autosomal recessive disorder due to impaired transport of cystine out of cellular lysosomes. Its estimated incidence is 1 in 100,000 live births. End-stage renal disease (ESRD) is the most prominent feature of cystinosis and, along with dehydration and electrolyte imbalance due to renal tubular Fanconi syndrome, has accounted for the bulk of deaths from this disorder. Prior to renal transplantation and cystine-depleting therapy with cysteamine for children with nephropathic cystinosis, their lifespan was approximately 10 years. Now, cystinotic patients have survived through their fifth decade, but the unremitting accumulation of cystine has created significant non-renal morbidity and mortality. In this article we review the classic presentation of nephropathic cystinosis and the natural history, diagnosis, and treatment of the disorder's systemic involvement. We also emphasize the role of oral cysteamine therapy in preventing the late complications of cystinosis.

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Section: Late Disease Complicationsmentioning

confidence: 99%

Nephropathic cystinosis: late complications of a multisystemic disease

2008

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“…80 Optic nerve disc elevation has recently been observed in several of our cystinosis patients and in several of them, further testing confirmed the presence of pseudotumor cerebri. 22 The etiology of this finding remains unelucidated, although corticosteroid intake and chronic renal failure may play a role.…”

Section: Ophthalmic Manifestationsmentioning

confidence: 99%

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

Tsilou¹,

Zhou²,

Gahl³

et al. 2007

Survey of Ophthalmology

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Cystinosis is a rare autosomal recessive metabolic disorder characterized by the intracellular accumulation of cystine, the disulfide of the amino acid cysteine, in many organs and tissues. Infantile nephropathic cystinosis is the most severe phenotype. Corneal crystal accumulation and pigmentary retinopathy were originally the most commonly described ophthalmic manifestations, but successful kidney transplantation significantly changed the natural history of the disease. As cystinosis patients now live longer, long-term complications in extrarenal tissues including the eye, have become apparent. A case of an adult patient with infantile nephropathic cystinosis is reported. He presented with many long-term ocular complications of cystinosis. After 4 years of follow-up, the patient died from sepsis. Pathology of the phthisical eyes demonstrated numerous electron transparent polygonal spaces, bounded by single membrane, in corneal cells, retinal pigment epithelial cells, and even choroidal endothelial cells. The ophthalmic manifestations and pathology of infantile nephropathic cystinosis are discussed and reviewed in light of the current report and other cases in the literature.

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“…The three disorders nephropathic cystinosis, PTC, and Duane syndrome are rare, with an estimated incidence of 1 in 100,000 to 200,000 live births for cystinosis, 1 and 1 in 100,000 persons for PTC. 5 About 1% of children have congenital strabismus.…”

Section: Discussionmentioning

confidence: 99%

“…It affects 1 infant in 100,000 to 200,000 births. 1 Cystinosis has been mapped to chromosome 17p13; the defective gene is CTNS. 2 It is a systemic metabolic defect that can present in three forms: infantile, intermediate, or adult.…”

Section: Introductionmentioning

confidence: 99%

“…2 Association with multi-organ involvements such as delayed puberty, hypothyroidism, pancreas and liver diseases, distal myopathies, hypophosphatemic rickets, failure to thrive, and, relevant to our patient, central nervous system (CNS) involvement such as calcification, atrophy, and pseudotumor cerebri (PTC) have been reported. [1][2][3] In this report, we present a rare case of cystinosis associated with PTC and bilateral Duane syndrome type I.…”

Section: Introductionmentioning

confidence: 99%

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

Behdad

Bagheri

Tavakoli

et al. 2014

Neuro-Ophthalmology

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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.

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Idiopathic intracranial hypertension in cystinosis

Cited by 57 publications

References 41 publications

Nephropathic cystinosis: late complications of a multisystemic disease

Nephropathic cystinosis: late complications of a multisystemic disease

Ophthalmic Manifestations and Histopathology of Infantile Nephropathic Cystinosis: Report of a Case and Review of the Literature

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

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