charcot spine

Charcot spinal arthropathy is a progressively degenerative joint disorder of the vertebrae. Historically, it was a common consequence of tertiary syphilis. Currently, it is a rare complication of spinal cord injury (SCI). We present the case of a 28-year-old patient with paraplegia who developed progressive, neurogenic bowel dysfunction due to Charcot spinal arthropathy. Our patient had upper motor neuron bowel syndrome secondary to SCI which advanced to lower motor neuron bowel syndrome. Charcot spinal arthropathy should be considered as a possible cause for symptom progression in SCI patients...

OBJECTIVE: Active Charcot Neuro-osteoarthropathy (CN) is a rare and severe complication of peripheral neuropathy that leads to deformity and disability. No pharmacological treatment is available. Increased osteoclastic activity plays a central role in active CN, particularly via receptor activator of nuclear factor ligand (RANK-L). We aimed to describe clinical, morphological and metabolic imaging effects of denosumab, a fully human monoclonal anti- RANK-L antibody, in active CN. METHODS: In this open-label study, we included all consecutive patients with active refractory CN treated with denosumab in our tertiary center...

BACKGROUND: Charcot-Marie-Tooth disease (CMT) type 4B3 (CMT4B3) is a rare form of genetic neuropathy associated with variants in the MTMR5/SBF1 gene. MTMR5/SBF1 is a pseudophosphatase predicted to regulate endo-lysosomal trafficking in tandem with other MTMRs. Although almost ubiquitously expressed, pathogenic variants primarily impact on the peripheral nervous system, corroborating the involvement of MTMR5/SBF1 and its molecular partners in Schwann cells-mediated myelinization. CASE PRESENTATION: We report a case of severe CMT4B3 characterized by early-onset motor and axonal polyneuropathy in an Italian child in absence of any evidence of brain and spine MRI abnormalities or intellectual disability and with a biochemical profile suggestive of mitochondrial disease...

BACKGROUND: Spinal neuroarthropathy (SNA), also known as Charcot spine, is an uncommon aggressive arthropathy, secondary to loss of proprioceptive and nociceptive feedback from the spine. A diagnosis of SNA is frequently delayed due to the scarcity of symptoms in its early stages, leading to significant neurological deterioration. Therefore, prompt suspicion of the disease is critical to providing better outcomes. This case assembles two rare characteristics of SNA: diabetic aetiology and a precocious time of diagnosis, and aims to highlight the magnetic resonance imaging (MRI) findings that allowed for the diagnosis...

BACKGROUND: Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of volunteer women with motor impairment due to a rare disease. In a parenting support institution, we recruited a consecutive series of 22 volunteer pregnant women or young mothers, recorded perinatal outcomes, and followed mother-infant interaction and relationship and infant development up to 14 months postpartum...

BACKGROUND: Charcot spinal arthropathy, also known as Charcot spine and neuropathic spinal arthropathy, is a progressive and destructive condition that affects an intervertebral disc and the adjacent vertebral bodies following loss of spinal joint innervation. We report the first case of Charcot spinal arthropathy (CSA) associated with cerebrospinal fluid (CSF)-cutaneous fistula. CASE PRESENTATION: A 54-year-old male who underwent T10-L2 posterior instrumented spinal fusion seven years prior for treatment of T11 burst fracture and accompanying T11 complete paraplegia visited our department complaining of leakage of clear fluid at his lower back...

INTRODUCTION: Patients with complete spinal cord injury (SCI) may develop concurrent sequalae that interact and share symptoms; thus, a careful approach to diagnosis and management of new symptoms is crucial. CASE PRESENTATION: A patient with prior T4 complete SCI presented with progressive autonomic nervous system (ANS) dysfunction. The initial differential diagnosis included syringomyelia and lumbar Charcot arthropathy. He had comorbid heterotopic ossification (HO) of the left hip...

BACKGROUND: Scoliosis is a common complication of severe neuromuscular diseases. The aim of this study is to determine the impact of posterior spinal fusion on pulmonary function parameters in patients with severe neuromuscular disease at our medical center. METHODS: Retrospective chart review of all patients with severe neuromuscular disease who had posterior spinal fusion between 2012 and 2017 at Texas Children's Hospital. Patients with growing rods, brain injury or malformation, and/or spina bifida were excluded...

CASE: We present a rare case of cervical Charcot disease that was diagnosed in a paraplegic patient by loss of function caudal to the original level of spinal cord injury. Clinical imaging, diagnosis, differentials, and operative management are discussed. CONCLUSIONS: Charcot disease of the cervical spine is rare and very difficult to diagnose in the paraplegic patient population. High clinical suspicion should be maintained in these patients who demonstrate any form of neurologic deterioration, mechanical instability, or change in spinal alignment...

BACKGROUND: Cavovarus foot is a common form of foot deformity in children, which is clinically characterized by an abnormal increase of the longitudinal arch of the foot, and it can be simultaneously complicated with forefoot pronation and varus, rearfoot varus, Achilles tendon contracture, or cock-up toe deformity. Muscle force imbalance is the primary cause of such deformity. Many diseases can lead to muscle force imbalance, such as tethered cord syndrome, cerebral palsy, Charcot-Marie-Tooth disease, and trauma...

Introduction: The authors present a case of a 55-year-old male with T10 complete paraplegia diagnosed with Charcot arthropathy of the spine (CAS). Case presentation: He presented to an outside institution with vomiting and productive cough with subsequent computed tomography (CT) and MRI imaging revealing L5 osteomyelitis and a paraspinal abscess. Given the patient's inability to remain in good posture in his wheelchair he underwent a multilevel vertebrectomy and thoracolumbar fusion...

Introduction: Charcot spinal arthropathy (CSA) is an uncommon clinical entity following spinal cord injury (SCI). It is characterized by progressive cartilaginous and bony destruction and is felt to be due to loss of proprioceptive and nociceptive feedback from the spine. CSA is typically diagnosed many years following SCI and has the potential to lead to progressive neurologic decline if left untreated. Case presentation: We describe the case of a 49-year-old male who fell approximately thirty feet from a ladder and sustained a fracture/dislocation at T3-4 and T8-9 resulting in a T4 ASIA A SCI...

Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive neuropathy caused by SH3TC2 mutations, characterized by spine deformities and cranial nerve involvement. This study identified four CMT4C families with compound heterozygous SH3TC2 mutations from 504 Korean demyelinating or intermediate CMT patients. The frequency of the CMT4C was calculated as 0.79% in demyelinating and intermediate patients (n = 504), but it was calculated as 2.02% in patients without PMP22 duplication (n = 198)...

BACKGROUND AND AIM OF THE WORK: Childhood-onset peripheral neuropathies are often of genetic origin. Charcot-Marie-Tooth (CMT), is considered the commonest neuromuscular disorder. Due to its high clinical heterogeneity, especially in the pediatric age, the co-existence of central and peripheral symptoms and signs does not necessarily rule out a diagnosis of hereditary peripheral neuropathy. METHODS: We describe the clinical, neurophysiological and genetic findings in a teen-age patient evaluated for acquired toe-walking and progressive difficulties in walking since the age of 5...

Charcot-Marie-Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized by early onset, spine deformities, and cranial nerve involvement. We screened SH3TC2 in 50 unrelated Greek patients with suspected demyelinating Charcot-Marie-Tooth disease and pedigree compatible with recessive inheritance. All patients had been previously screened for PMP22, GJB1, and MPZ mutations. We found five previously identified pathogenic mutations in SH3TC2 distributed among 13 patients in homozygosity or compound heterozygosity (p...

Introduction: Charcot spinal arthropathy (CSA) is an infrequent but potentially devastating complication after spinal cord injury. Case presentation: We report a case of a man with longstanding T3 complete (AIS A) paraplegia who developed severe CSA with spine disruption and aortic displacement. Discussion: Acute management of this patient is described along with both conservative and surgical management considerations and challenges as described in other reports...

Bcl2-associated athanogene 3 (BAG3) mutations have been reported to cause the myofibrillar myopathy (MFM) which shows progressive limb muscle weakness, respiratory failure, and cardiomyopathy. Myopathy patients with BAG3 mutation are very rare. We described a patient showing atypical phenotypes. We aimed to find the genetic cause of Korean patients with sensory motor polyneuropathy, myopathy and rigid spine. We performed whole exome sequencing (WES) with 423 patients with sensory motor polyneuropathy. We found BAG3 mutation in one patient with neuropathy, myopathy and rigid spine syndrome, and performed electrophysiological study, whole body MRI and muscle biopsy on the patient...

Background: Charcot spinal arthropathy (CSA), a destructive spinal pathology, is seen in patients with impaired sensation. Superimposed infection in the affected spinal segments can lead to a challenge in the diagnosis and management. Spinal cord injury (SCI) is the leading cause of CSA as persons with SCI have significantly impaired sensation. Though infection of the CSA is rare, SCI persons are prone to superimposed infection of the Charcot spine. We report atypical presentations of three cases of CSA with superimposed infection...

INTRODUCTION: Charcot arthropathy is one of the disabling diabetes complications. There are enigmatic areas concerning its underlying pathophysiology and risk predictors. Osteoporosis and local osteopenia have been postulated to have a role in Charcot arthropathy development, but it is still controversial. BACKGROUND: The study aims to compare bone mineral density among type 2 diabetics with and without Charcot arthropathy. METHODS: Two groups with type 2 diabetes participated in this study; Group I [30] patients with Charcot arthropathy while Group II [30] patients without charcot arthropathy...

BACKGROUND: Charcot spinal arthropathy (CSA) clearly represents a challenge in long-term spinal cord injury patients, one that can have extremely uncomfortable and potentially lethal outcomes if not managed properly. CASE DESCRIPTION: A 66-year-old man with a history of complete C7 quadriplegia presented with new-onset autonomic dysreflexia that resulted from Charcot spinal arthropathy (CSA). Pathologic instability, in the atypical site of the mid-thoracic spine, spanning from the T8-T9 vertebral levels was appreciated on physical exam as an audible, palpable, and visible dynamic kyphosis; kyphosis was later confirmed on neuroimaging...