ABSTRACT
Progressive myelopathies can be secondary to inborn errors of metabolism (IEM) such as mucopolysaccharidosis, mucolipidosis, and adrenomyeloneuropathy. The available scale, Japanese Orthopaedic Association (JOA) score, was validated only for degenerative vertebral diseases. Our objective is to propose and validate a new scale addressing progressive myelopathies and to present validating data for JOA in these diseases. A new scale, Severity Score System for Progressive Myelopathy (SSPROM), covering motor disability, sphincter dysfunction, spasticity, and sensory losses. Inter- and intra-rater reliabilities were measured. External validation was tested by applying JOA, the Expanded Disability Status Scale (EDSS), the Barthel index, and the Osame Motor Disability Score. Thirty-eight patients, 17 with adrenomyeloneuropathy, 3 with mucopolysaccharidosis I, 3 with mucopolysaccharidosis IV, 2 with mucopolysaccharidosis VI, 2 with mucolipidosis, and 11 with human T-cell lymphotropic virus type-1 (HTLV-1)-associated myelopathy participated in the study. The mean ± SD SSPROM and JOA scores were 74.6 ± 11.4 and 12.4 ± 2.3, respectively. Construct validity for SSPROM (JOA: r = 0.84, P < 0.0001; EDSS: r = -0.83, P < 0.0001; Barthel: r = 0.56, P < 0.002; Osame: r = -0.94, P < 0.0001) and reliability (intra-rater: r = 0.83, P < 0.0001; inter-rater: r = 0.94, P < 0.0001) were demonstrated. The metric properties of JOA were similar to those found in SSPROM. Several clinimetric requirements were met for both SSPROM and JOA scales. Since SSPROM has a wider range, it should be useful for follow-up studies on IEM myelopathies.
Subject(s)
Adolescent , Adult , Child , Female , Humans , Male , Middle Aged , Young Adult , Disability Evaluation , Severity of Illness Index , Spinal Cord Diseases/diagnosis , Observer Variation , Spinal Cord Diseases/etiologyABSTRACT
Introducción: La herniación medular transdural idiopática es una entidad rara cuyas formas son la postraumática y posquirúrgica; es omitida en la valoración preoperatoria y con frecuencia afecta al segmento torácico. Clínicamente puede causar mielopatía progresiva o síndrome de Brown-Séquard, cuyo diagnóstico se establece por resonancia magnética. La finalidad de informar esta entidad es su dificultad diagnóstica y, por lo tanto, para establecer un manejo óptimo. Casos clínicos: Dos pacientes mal diagnosticados al inicio e intervenidos en otros segmentos del raquis. Finalmente fueron valorados por sospecha clínica de herniación medular transdural idiopática y por exclusión de otras patologías. Se les realizó laminectomía en los niveles afectados, reducción de la hernia medular y colocación de parche sintético en duramadre. Conclusiones: La herniación medular transdural idiopática se ha atribuido a debilidad congénita de la duramadre o duplicación dural ventral con herniación a través de la capa interna debido a la presión continua del líquido cefalorraquídeo que empuja la médula fuera del espacio subdural. Se estima que el diagnóstico preoperatorio se realiza en una tercera parte de los casos, confirmándose con resonancia magnética. El tratamiento quirúrgico se efectúa en pacientes con progresión de los síntomas; los pacientes cuyos síntomas son leves o ausentes se mantienen bajo monitoreo. El tratamiento oportuno puede permitir la recuperación del déficit neurológico, mejorando la afección motora en 80% y la afección sensitiva en 35%.
BACKGROUND: Idiopathic transdural spinal cord herniation (ISCH) is a rare entity with postsurgical and post-trauma forms. ISCH is often omited in the preoperative evaluation. It often affects the thoracic segment and presents clinically as a rare cause of progressive myelopathy or Brown-Séquard syndrome, whose diagnosis is established by magnetic resonance imaging (MRI). We report on this rare entity due to its difficult diagnosis, making optimal management difficult. CLINICAL CASE: We present the cases of two patients with ISCH who were misdiagnosed and operated on in other spinal segments without reaching an accurate diagnosis. In our institution, patients with clinical suspicion were evaluated by imaging studies in order to rule out other pathologies. Laminectomy was performed on the involved levels, reducing herniation and with the placement of a synthetic spinal patch to the duramater. CONCLUSIONS: ISCH has been attributed to congenital weakness of the duramater or the dural ventral duplication with herniation through the inner layer due to continuous pressure from cerebrospinal fluid that pushes the marrow out of the subdural space. It is estimated that presurgical diagnosis is done only in one third of the cases, confirmed by MRI. Surgery is performed on patients with symptom progression. Surveillance in those patients with mild symptoms is recommended. Treatment may allow recovery of the neurological deficit, improving motor affection in 80% of patients and sensory affection in 35%.