Tag: congenital

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Familial Chiari malformation: a systematic review and illustrative cases

J Neurosurg Spine 41:105–114, 2024

Chiari malformations (CMs) are a group of congenital or acquired disorders characterized by hindbrain overcrowding into an underdeveloped posterior cranial fossa. CM is considered largely sporadic—however, there exists growing evidence of transmissible genetic underpinnings. The purpose of this systematic review of all familial studies of CM was to investigate the existence of an inherited component and provide recommendations to manage and monitor at-risk family members.

METHODS This paper includes the following: 1) a unique case report of dizygotic twins who presented at the Toronto Western Hospital Spinal Cord Clinic with symptomatic CM type 1 (CM-1) and syringomyelia; and 2) a systematic review of familial CM. The EMBASE and MEDLINE databases were searched on June 27, 2023, in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Only articles in the English language concerning the diagnosis of CM in > 1 human family member presented as a case study, case series, or literature review were included.

RESULTS Among the 29 articles included in the final analysis, a total of 34 families with CM were analyzed. An average of 3 cases of CM were found per family among all generations. Eighty-one cases (88%) reported CM-1, whereas the other 11 (12%) cases reported either CM-0, CM-1.5, or tonsillar ectopia. A syrinx was present in 37 (54%) cases, with 14 (38%) of these patients also reporting a skeletal abnormality, the most common comorbidity. Most family members diagnosed with CM were siblings (18; 35%), followed by monozygotic twins/triplets (12; 23%).

CONCLUSIONS Patients most often presented with headaches, sensory disturbances, or generalized symptoms. Overall, there exists mounting evidence for a hereditary component of CM. It is unlikely to be explained by a classic mendelian inheritance pattern, but is rather a polygenic architecture influenced by variable penetrance, cosegregation, and entirely nongenetic factors. For first-degree relatives of those affected by CM, the authors’ findings may influence clinicians to conduct closer clinical and radiographic monitoring, promote patient education, and consider earlier genetic testing.

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Microsurgical sealing for symptomatic sacral Tarlov cysts: a series of 265 cases

J Neurosurg Spine 37:905–913, 2022

Tarlov cysts (TCs) are a common cystic entity in the sacral canal, with a reported prevalence between 1.5% and 13.2%; 10%–20% of patients are symptomatic and need appropriate clinical intervention. However, the choice of treatment remains controversial. The goal of this study was to describe a new microsurgical sealing technique for symptomatic sacral TCs (SSTCs) as well as its long-term outcomes.

METHODS Microsurgical sealing was performed using a short incision, leakage coverage with a piece of autologous fat, and cyst sealing with fibrin glue. Postoperative data were collected at three stages: discharge, 1-year follow-up, and a follow-up of 3 years or more. According to the improvement in neurological deficits and degree of pain relief, outcomes were divided into four levels: excellent, good, unchanged, and deteriorated.

RESULTS A total of 265 patients with SSTCs were treated with microsurgical sealing from January 2003 to December 2020. The mean follow-up was 44.69 months. The percentages of patients who benefited from the operation (excellent and good) at the three stages were 87.55%, 84.89%, and 80.73%, respectively, while those who received no benefit (unchanged and deteriorated) were 12.45%, 15.11%, and 19.27%, respectively. Of the patients with postoperative MRI, the cysts were reduced in size or disappeared in 209 patients (94.14%). CSF leakage from the wound was observed in 15 patients, and 4 patients experienced an infection at the incision. There were no cases of new-onset nerve injury or aseptic meningitis after the operation.

CONCLUSIONS SSTC patients undergoing microsurgical sealing had persistently high rates of symptom relief and few postoperative complications. Microsurgical sealing is an effective, simple, and low-risk method for treating SSTCs.

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Tethered spinal cord syndrome in adults in the MRI era: recognition, pathology, and long-term objective outcomes

J Neurosurg Spine 34:942–954, 2021

Tethered cord syndrome (TCS) has been well described in pediatric patients. Many recent reports of TCS in adult patients have grouped retethering patients with newly diagnosed ones without separately analyzing each entity and outcome. The authors reviewed their experience of newly diagnosed adult TCS patients to identify and explore TCS misdiagnosis, recognition, subtype pathology, and individual objective outcomes.

METHODS This study included 24 adult patients (20 female and 4 male) who fit the criteria of being newly diagnosed and aged 20 years and older (age range 20–77 years). Preexisting dermal sinus was present in 6 patients, hypertrichosis in 5, skin tag/cleft/dimple and fatty subcutaneous masses in 5, scoliosis in 2, and neurological abnormalities in 4 patients. The pathology consisted of TCS with taut filum in 8 patients, conus lipoma with TCS in 7, diastematomyelia in 7, and cervical cord tethering in 2 patients. Of the 24 study patients, nondermatomal low-back or perineal pain occurred in 19 patients, bladder dysfunction in 21, and motor, sensory, and reflex abnormalities in 21 patients. Aggravating factors were repeated stretching, multiple pregnancies, heavy lifting, and repeated bending. Urological evaluation included bladder capacity, emptying, postvoid residuals, detrusor function, pelvic floor electromyography (EMG), bladder sensitivity, and sphincter EMG, which were repeated at 6 months and 1 year postoperatively. The follow-up was 1 to 30 years. Detailed postoperative neurological findings and separate patient outcome evaluations were recorded. Four of the 24 patients did not have an operation.

RESULTS Resolution of pain occurred in 16 of the 19 patients reporting low-back or perineal pain. Motor and sensory complaints resolved in 17 of 20 patients. Regarding bladder dysfunction, in the 20 patients with available data, bladder function returned to normal in 12 patients, improved in 3 patients, and was unchanged in 5 patients. If the symptom duration was less than 6–8 months, there was recovery of all parameters of pain, bladder dysfunction, and neurological deficit, and recovery from hyperreflexia matched that from neurological deficit. Fifteen patients were employed preoperatively and returned to work, and an additional 3 others who were unable to work preoperatively were able to do so postoperatively.

CONCLUSIONS Most adults with newly diagnosed TCS have unrecognized neurocutaneous abnormalities and neurological deficits. The triad of nondermatomal sacral or perineal pain, bladder dysfunction, and neurological deficit should not be confused with hip or degenerative lumbosacral disease. Addressing the primary pathology often leads to successful results.

 

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Magnetic resonance imaging–based measures predictive of short-term surgical outcome in patients with Chiari malformation Type I

J Neurosurg Spine 26:28–38, 2017

This study identifies quantitative imaging-based measures in patients with Chiari malformation Type I (CM-I) that are associated with positive outcomes after suboccipital decompression with duraplasty.

Methods Fifteen patients in whom CM-I was newly diagnosed underwent MRI preoperatively and 3 months postoperatively. More than 20 previously described morphological and physiological parameters were derived to assess quantitatively the impact of surgery. Postsurgical clinical outcomes were assessed in 2 ways, based on resolution of the patient’s chief complaint and using a modified Chicago Chiari Outcome Scale (CCOS). Statistical analyses were performed to identify measures that were different between the unfavorable- and favorable-outcome cohorts. Multivariate analysis was used to identify the strongest predictors of outcome.

Results The strongest physiological parameter predictive of outcome was the preoperative maximal cord displacement in the upper cervical region during the cardiac cycle, which was significantly larger in the favorable-outcome subcohorts for both outcome types (p < 0.05). Several hydrodynamic measures revealed significantly larger preoperative-topostoperative changes in the favorable-outcome subcohort. Predictor sets for the chief-complaint classification included the cord displacement, percent venous drainage through the jugular veins, and normalized cerebral blood flow with 93.3% accuracy. Maximal cord displacement combined with intracranial volume change predicted outcome based on the modified CCOS classification with similar accuracy.

Conclusions Tested physiological measures were stronger predictors of outcome than the morphological measures in patients with CM-I. Maximal cord displacement and intracranial volume change during the cardiac cycle together with a measure that reflects the cerebral venous drainage pathway emerged as likely predictors of decompression outcome in patients with CM-I.

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