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Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

ABSTRACT: Introduction:Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by mutations of the CYP27A1 gene and deficiency of the sterol-27-hydroxylase enzyme in bile acid biosynthesis. It is characterized by the accumulation of cholestanol and bile alcohols in plasma, the formation of xanthomatous lesions in various tissues, and organ degeneration. This disorder is also associated with osteoporosis and increased risk of fracture. To date, only two CTX patients with femoral neck fractures have been reported. Neither was treated by arthroplasties, and the operative outcomes are lacking. Case Report:We report the case of a 46-year-old Thai female who presented with consecutive bilateral femoral neck fractures following minor trauma within a 3-year period and received cementless bipolar hemiarthroplasties. Her phenotypic expression included Achilles tendon masses, childhood-onset cataracts, intellectual disability, and cerebellar ataxia. A brain computed tomography showed non-enhancing hypodense lesions in the bilateral cerebellar hemispheres with mild brain atrophy. Histopathology from an Achilles tendon biopsy revealed tendinous xanthoma and molecular analysis confirmed a homozygous nonsense mutation, c.1072C>T (p.Gln358Ter), in exon 6 of the CYP27A1 gene. The intra-operative crack of a calcar femorale was a major complication during both prosthetic insertion surgeries and warranted cerclage wiring. At the 7-month follow-up of the right hip and the 41-month follow-up of the left hip, postoperative radiographs showed well-fixed and well-aligned prostheses. Independent household ambulation could be resumed with Harris hip scores of 81 points equally. Conclusion:CTX is associated with osteoporosis, and middle-aged patients could present with femoral neck fracture following minor trauma. Cementless bipolar hemiarthroplasty for a totally displaced fracture is justified for a patient who has cognitive impairment. Intra-operative fracture is a major complication during prosthetic insertion and warrants cerclage wiring to achieve predictable bone healing and a satisfactory result.

SUBMITTER: Wejjakul W

PROVIDER: S-EPMC5728000 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundClassic cerebrotendinous xanthomatosis (CTX; OMIM #213700) manifests with chronic diarrhea, juvenile cataracts, tendon xanthomas and neurological symptoms. It is due to biallelic inactivation of CYP27A1 wich leads to cholestanol accumulation in the central nervous system, eyes and tendons. Less commonly, the disease can present in young adults as spastic paraparesis in the absence of xanthomas.Case presentationWe report a 38-year old woman who presented with chronic diarrhea and progressive spastic paraparesis in her twenties. Brain magnetic resonance imaging (MRI) showed cerebral atrophy with diffuse periventricular white matter hyperintensities. Spinal MRI was normal. CYP27A1 gene sequencing confirmed the diagnosis of CTX. Chenodeoxycholic acid (CDCA) treatment was introduced with remission of diarrhea. Unfortunately, the treatment had to be discontinued several times and the patient developed psychosis and an severe ataxospastic gait. Spinal MRI revealed new linear hyperintensities of the corticospinal and gracile tracts. Thirty-three spinal CTX patients were identified by searching in Pubmed, EMBASE™ and Web of Science databases. All patients presented pyramidal signs and 48% had dorsal column signs. Juvenile cataracts were described in 78% of patients, chronic diarrhea in 65%, and tendon xanthomas in 31%. Disease improvement or stabilization with chenodeoxycholic acid was observed in 69% of patients. A higher prevalence of the Arg395Cys allele was observed in patients with spinal CTX as compared to CTX in general (ᵡ2; p < 0.00001).ConclusionsThe diagnosis of spinal CTX can be easily missed or delayed in absence of xanthomas. There is a higher prevalence of the Arg395Cys allele in spinal CTX as compared to classic childhood-onset CTX. CDCA treatment seems to stabilize or improve clinical symptoms in most patients. However, as seen in our patient and in two previously reported cases, sudden interruption of CDCA may lead to irreversible neurological complications.

Project description:OBJECTIVES:To determine if hospital arthroplasty volume affects patient outcomes after undergoing total hip arthroplasty (THA) for displaced femoral neck fractures. METHODS:The Statewide Planning and Research Cooperative System database from the New York State Department of Health was used to group hospitals into quartiles based on overall THA volume from 2000 to 2010. The database was then queried to identify all patients undergoing THA specifically for femoral neck fracture during this time period. The data were analyzed to investigate outcomes between the 4 volume quartiles in 30-day and 1-year mortality, 1-year revision rate, and 90-day complication rate (readmission for dislocation, deep vein thrombosis, pulmonary embolism, prosthetic joint infection, or other complications related to arthroplasty in the treatment of femoral neck fractures with THA). RESULTS:Patients undergoing THA for femoral neck fracture at hospitals in the top volume quartile had significantly lower 30-day (0.9%) and 1-year (7.51%) mortality than all other volume quartiles. There were no significant differences on pairwise comparisons between the second, third, and fourth quartiles with regard to postoperative mortality. There was no significant difference in revision arthroplasty at 1 year between any of the volume quartiles. On Cox regression analysis, THA for fracture at the lowest volume (fourth) quartile [hazard ratio (HR), 1.91; P = 0.016, 95% confidence interval (CI), (1.13-3.25)], second lowest volume (third) quartile (HR, 2.01; P = 0.013, 95% CI, 1.16-3.5) and third lowest volume (second) quartile (HR, 2.13; P = 0.005, 95% CI, 1.26-3.62) were associated with increased risk for a 1-year postoperative mortality event. Hospital volume quartile was also a significant risk factor for increased 90-day complication (pulmonary embolism/deep vein thrombosis, acute dislocation, prosthetic joint infection) following THA for femoral neck fracture. Having surgery in the fourth quartile (HR, 2.71; P < 0.001, 95% CI, 1.7-4.31), third quartile (HR, 2.61; P < 0.001, 95% CI, 1.61-4.23), and second quartile (HR, 2.41; P < 0.001, 95% CI, 1.51-3.84), all were significant risk factors for increased 90-day complication risk. CONCLUSIONS:The results of this population-based study indicate that THA for femoral neck fractures at high-volume arthroplasty centers is associated with lower mortality and 90-day complication rates but does not influence 1-year revision rate. THA for femoral neck fractures at top arthroplasty volume quartile hospitals are performed on healthier patients more quickly. Patient health is a critical factor that influences mortality outcomes following THA for femoral neck fractures. LEVEL OF EVIDENCE:Prognostic Level II. See Instructions for Authors for a complete description of levels of evidence.

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Bilateral Femoral Neck Fractures in Cerebrotendinous Xanthomatosis Treated by Hip Arthroplasties: The First Case Report and Literature Review.

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