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Skeletal implications and management of cystinosis: three case reports and literature review.

ABSTRACT: Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even though the exact underlying pathophysiology is unclear. Four hypotheses are currently discussed to explain such impairment: copper deficiency, bone consequences of severe hypophosphatemic rickets during infancy, cysteamine toxicity and abnormal thyroid metabolism. In murine models, the invalidation of the CTNS gene is associated neither with renal phosphate wasting nor with renal failure, but causes severe osteopenia and growth retardation, thus raising the hypothesis of a specific underlying bone defect in cystinosis. Moreover, the in vitro ability of mesenchymal stromal cells isolated from bone marrow to differentiate along the osteoblastic lineage is reduced in patients with cystinosis as compared with cells obtained from healthy controls, this cellular abnormality being reverted after cysteamine treatment. From our experience of three pediatric patients with cystinosis and severe bone deformations having undergone a thorough biochemical evaluation, as well as a bone biopsy, we conclude that even though copper deficiency, high-doses cysteamine regimens and abnormal thyroid metabolism may worsen the bone picture in cystinosis patients, the exact pathophysiology of such impairment remains to be defined. The role of chronic hypoparathyroidism due to chronic phosphate wasting could also be discussed. In the future, larger and prospective studies should focus on this topic because of the potential major impact on patients' quality of life.

SUBMITTER: Bacchetta J

PROVIDER: S-EPMC4988218 | biostudies-other | 2016

REPOSITORIES: biostudies-other

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Project description:BackgroundPlacement of a syringo-subarachnoid shunt as a surgical management for syringomyelia has been well described in the literature. Good results in terms of clinical and radiological improvement have been documented especially for posttraumatic syringomyelia. Traditionally, this has been performed using open approaches which are fraught with risks of cerebrospinal fluid leak, delayed wound healing, and increased postoperative pain. With the help of minimally invasive techniques that are currently being used to treat various degenerative spinal disorders, most of these complications may be minimized. However, few reports in literature describe similar approaches for accessing intradural intramedullary spinal cord lesions and especially for syringomyelia.MethodsRetrospective case review: using a 22-mm tubular retractor, a laminotomy was performed, durotomy done, and spinal cord identified. Myelotomy was performed at the dorsal root entry zone, syrinx visualized and entered, followed by placement of syringo-subarachnoid shunt.ResultsThree male patients aged 44, 57, and 37 underwent placement of syringo-subarachnoid shunts using minimally invasive fixed tubular retractors. Indications included posttraumatic or postsurgical spinal cord syrinx. Follow-up period was 1 year in all cases. There were no neurological or technique-related complications. All patients showed clinical improvement upon subsequent follow up.ConclusionsOur clinical experience on the treatment of syringomyelia via a minimally invasive fixed tubular retractor is presented. We find that this is an ideal approach for placement of syringo-subarachnoid shunts, as it provides direct access to the lesion with minimal collateral damage and wound-related complications.Level of evidence4.Clinical relevanceRelevant - in demonstrating the effectiveness of an already established procedure through a novel, minimally invasive approach which has the potential to significantly reduce the overall morbidity, in view of the inherent approach-related benefits as compared to conventional open approaches.

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Skeletal implications and management of cystinosis: three case reports and literature review.

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