Management and Therapeutic Strategies for Spinal Muscular Atrophy
Published on: 29th March, 2024
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder characterized by progressive muscle weakness and atrophy. It is one of the most common single-gene disorders with an incidence rate of approximately 1 in 10,000 live births. The clinical manifestations are progressive hypotonia and muscle weakness due to the degeneration of alpha neurons in the anterior horn cells of the spinal cord and motor nuclei in the lower brain stem. Depending on the severity of the symptoms, SMA has five subtypes. Supportive measures can be offered for respiratory, gastrointestinal, and musculoskeletal complications. Carrier testing for all couples is recommended and this can be done by Multiplex Ligation-dependent Probe Amplification (MLPA). Prenatal diagnosis can be offered to carrier couples. Therapies must be given within the newborn period for maximum benefit and before the loss of motor neurons. It is achieved by identifying the SMA babies through Newborn screening. Several new FDA-approved drugs can reduce the progression of symptoms in SMA. However, they cannot offer a definite cure. Clinical follow-up and Neurological assessment demonstrate that SMA children can attain developmental milestones after receiving treatment, which is never normally attained in untreated cases. In utero SMA treatment with Zolgensma would enhance the survival rate and favorable neurological outcomes in the future. Base editing and Gene editing with CRISPR-Cas technologies to target the mutations and restore functional and stable SMN protein levels are the future hopes for a permanent cure of SMA.
Primary Diffuse Leptomeningeal Melanocytosis: A Rare and Challenging Diagnosis
Published on: 17th April, 2024
Primary melanocytic neoplasms of the central nervous system are rare entities and can present in different clinical forms with mild and non-specific symptoms (such as headache and tinnitus) to severe and limiting symptoms (focal deficits and intracranial hypertension), mimicking the most diverse pathologies. In addition to the peculiar changes in imaging tests, diagnosis is always a challenge given the multitude of possible differential diagnoses, including aseptic meningitis. Given this, we bring here the case of a 59-year-old patient who attended care due to headache and vertigo followed by involvement of the cranial nerves and spinal cord, corroborated by physical examination and imaging study suggesting diffuse involvement of the meninges, which was subsequently confirmed by anatomopathological examination as a primary melanocytic neoplasm of the central nervous system but ended up dying due to complications resulting from late diagnosis. The objective of this work is to raise awareness about the possibility of this pathology as a differential diagnosis in these cases where there are often frustrating clinical manifestations but with changes in imaging tests, to enable an early diagnosis and consequently the possibility of a better therapeutic result, in addition to a brief review of the propaedeutic findings of this pathology.
Bicytopenia Revealing an Intramedullary Spinal Cord Metastatic Prostatic Carcinoma
Published on: 30th May, 2024
Usually revealed by lower urinary tract symptoms, prostate neoplasms are the most frequent urological cancer.The patient was a 70-year-old man being explored for bicytopenia in the hematology department: anemia and bicytopenia with no urinary symptoms in the first plan.Bone marrow biopsy was done and the histological and immunohistochemical concluded in an intramedullary spinal cord metastasis of an undifferentiated prostatic carcinoma.We have reviewed the literature one other case of intramedullary metastasis of prostatic cancer was detected but the main symptoms were neurological and the patient was already diagnosed with his cancer.
An Observational Study on Clinical Outcome and Predictors of Traumatic Cervical Injury at a Tertiary Care Facility
Published on: 26th March, 2025
Introduction: Cervical spinal cord injuries (CSIs) account for 2% - 3% of trauma cases and 8.2% of trauma- related fatalities, making them a significant cause of disability and mortality. Effective management and timely interventions are essential to improve neurological and functional outcomes. This study aimed to evaluate the outcomes of patients with CSIs and identify key predictors of neurological and functional improvement.Materials and methods: This prospective observational study was conducted over 12 months at SMS Medical College, Jaipur, involving 100 patients with CSIs from C1 to C7 vertebrae. Patients presenting within one week of injury were included. Clinical evaluation was conducted using the ASIA scoring system, and functional outcomes were assessed with the Functional Independence Measure (FIM) scale. MRI findings were analyzed to classify injuries and identify critical predictors, including the presence and extent of edema and listhesis grading.Results: Significant predictors of neurological improvement included injury type, management approach, MRI findings, extent of edema (≤ 2 vs. >2 segments), and listhesis grading. Operative management and incomplete injuries showed better outcomes. The median Barthel Index improved from 4.0 preoperatively to 7.0 at four months (p < 0.001). The mean FIM score also significantly increased from 43.25 ± 26.5 to 56.8 ± 40.75 (p < 0.05). ASIA Grades C and D demonstrated significant neurological recovery, with no grade deterioration observed.Conclusion: Age, injury type, management strategy, MRI findings, extent of edema, and listhesis grading are key predictors of outcomes in CSIs. These findings emphasize the importance of early diagnosis, timely surgical intervention, and comprehensive management in improving neurological and functional recovery. Multicentric studies with larger cohorts are recommended for broader generalizability.
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