Multi-disciplinary clinical protocol for the diagnosis of bulbar amyotrophic lateral sclerosis / Protocolo clínico multi-disciplinar para el diagnóstico de la esclerosis lateral amiotrófica bulbar

Introduction and objectives: The objective of this study was to examine the role of different specialists in the diagnosis of amyotrophic lateral sclerosis (ALS), to understand changes in verbal expression and phonation, respiratory dynamics and swallowing that occurred rapidly over a short period of time. Materials and methods: 22 patients with bulbar ALS were submitted for voice assessment, ENT evaluation, Multi-Dimensional Voice Program (MDVP), spectrogram, electroglottography, fiberoptic endoscopic evaluation of swallowing. Results: In the early stage of the disease, the oral tract and velopharyngeal port were involved. Three months after the initial symptoms, most of the patients presented hoarseness, breathy voice, dysarthria, pitch modulation problems and difficulties in pronunciation of explosive, velar and lingual consonants. Values of MDVP were altered. Spectrogram showed an additional formant, due to nasal resonance. Electroglottography showed periodic oscillation of the vocal folds only during short vocal cycle. Swallowing was characterized by weakness and incoordination of oro-pharyngeal muscles with penetration or aspiration. Conclusions: A specific multidisciplinary clinical protocol was designed to report vocal parameters and swallowing disorders that changed more quickly in bulbar ALS patients. Furthermore, the patients were stratified according to involvement of pharyngeal structures, and severity index

Introducción y objetivos: El objetivo de este estudio fue examinar la función de los diferentes especialistas en el diagnóstico de la esclerosis lateral amiotrófica (ELA), para comprender qué cambios se produjeron en cuanto a expresión verbal, dinámica fonatoria y respiratoria, y deglución, en un breve periodo de tiempo. Materiales y métodos: Se sometió a 22 pacientes con ELA bulbar a evaluación de la voz, examen ORL, programa de voz multi-dimensional (MDVP), espectrograma, electroglotografía y evaluación de la deglución mediante endoscopía de fibra óptica. Resultados: En la etapa temprana de la enfermedad, el tracto oral y el cierre velofaríngeo se vieron comprometidos. Transcurridos 3 meses de los síntomas iniciales, la mayoría de los pacientes presentó ronquera, voz entrecortada, disartria, problemas de modulación de la afinación y dificultades de pronunciación de las consonantes oclusivas, velares y linguales. Los valores del MDVP se vieron alterados. El espectrograma reflejó un formante adicional, debido a la resonancia nasal. La electroglotografía mostró una oscilación periódica de las cuerdas vocales únicamente durante el ciclo vocal corto. La deglución se vio caracterizada por debilidad y descoordinación de los músculos orofaríngeos, con penetración o aspiración. Conclusiones: Se diseñó un protocolo clínico multidisciplinar específico para reportar los parámetros vocales y los trastornos deglutorios que experimentan un cambio más rápido en los pacientes con ELA bulbar. Además, se estratificaron los pacientes con arreglo al compromiso de las estructuras faríngeas y el índice de gravedad

Multi-disciplinary clinical protocol for the diagnosis of bulbar amyotrophic lateral sclerosis.

INTRODUCTION AND OBJECTIVES: The objective of this study was to examine the role of different specialists in the diagnosis of amyotrophic lateral sclerosis (ALS), to understand changes in verbal expression and phonation, respiratory dynamics and swallowing that occurred rapidly over a short period of time. MATERIALS AND METHODS: 22 patients with bulbar ALS were submitted for voice assessment, ENT evaluation, Multi-Dimensional Voice Program (MDVP), spectrogram, electroglottography, fiberoptic endoscopic evaluation of swallowing. RESULTS: In the early stage of the disease, the oral tract and velopharyngeal port were involved. Three months after the initial symptoms, most of the patients presented hoarseness, breathy voice, dysarthria, pitch modulation problems and difficulties in pronunciation of explosive, velar and lingual consonants. Values of MDVP were altered. Spectrogram showed an additional formant, due to nasal resonance. Electroglottography showed periodic oscillation of the vocal folds only during short vocal cycle. Swallowing was characterized by weakness and incoordination of oro-pharyngeal muscles with penetration or aspiration. CONCLUSIONS: A specific multidisciplinary clinical protocol was designed to report vocal parameters and swallowing disorders that changed more quickly in bulbar ALS patients. Furthermore, the patients were stratified according to involvement of pharyngeal structures, and severity index.

Magnetic resonance parkinsonism index in progressive supranuclear palsy and vascular parkinsonism.

To investigate accuracy of the magnetic resonance parkinsonism index (MRPI) in differentiating progressive supranuclear palsy (PSP) from vascular parkinsonism (VP). We retrospectively analyzed radiological data of 12 PSP patients and 17 VP patients group-matched by age and sex who performed a standardized brain magnetic resonance imaging (MRI). Analysis of selected structures morphometry was performed to all study subjects and the MRPI was calculated for each selected patient. MRI midbrain area as well as superior cerebellar peduncle width were significantly lower in PSP patients compared to VP subjects. MRPI was significantly larger in PSP patients compared to VP subjects. MRPI value ≥13 distinguished the two groups with a sensitivity of 100 % (95 % CI 69.9-100) and a specificity of 100 % (95 % CI 77.1-100). MRPI may represent an accurate tool in differentiating PSP from VP.

Role of intraoperative indocyanine green video-angiography to identify small, posterior fossa arteriovenous malformations mimicking cavernous angiomas. Technical report and review of the literature on common features of these cerebral vascular malformations.

OBJECTIVE: To illustrate the usefulness of intraoperative indocyanine green videoangiography (ICG-VA) to identify the nidus and feeders of a small cerebellar AVM resembling a cavernous hemangioma. To review the unique features regarding the overlay between these two vascular malformations and to highlight the importance to identify with ICG-VA, and treat accordingly, the arterial and venous vessels of the AVM. METHODS: A 36-year old man presented with bilateral cerebellar hemorrhage. MRI was equivocal in showing an underlying vascular malformation but angiography demonstrated a small, Spetzler-Martin grade I AVM. Surgical resection of the AVM with the aid of intraoperative ICG-VA was performed. After hematoma evacuation, pre-resection ICG-VA did not reveal tortuous arterial and venous vessels in keeping with a typical AVM but rather an unusual blackberry-like image resembling a cavernous hemangioma, with tiny surrounding vessels. Such intraoperative appearance, which could also be the consequence of a "leakage" of fluorescent dye from the nidal pathological vessels, with absent blood-brain barrier, into the surrounding parenchymal pathological capillary network, is important to be recognized as an unusual AVM appearance. RESULTS: Post-resection ICG-VA confirmed the AVM removal, as also shown by postoperative and 3-month follow-up DSAs. CONCLUSIONS: Despite technical limitations associated with ICG-VA in post-hemorrhage AVMs, this case together with the intraoperative video, demonstrates the useful role of ICG-VA in identifying small AVMs with peculiar features.

Parietal atretic cephalocele: Associated cerebral anomalies identified by CT and MR imaging.

We describe a case of atretic cephalocele (AC) characterized by the presence of various cerebral anomalies of different midline structures. In our patient the presence of a parietal AC was associated with an embryonic position of the straight sinus, fenestration of the superior sagittal sinus, an abnormal insertion of the cerebellar tentorium with prominence of the superior cerebellar cistern and a septum pellucidum cyst. These findings, associated with AC, could lead to a worse prognosis with regard to neurodevelopmental milestones. This suggests that even if AC is a benign lesion, a complete evaluation of the brain structures should always be performed in these young patients.

CT and MR Studies of Giant Dermoid Cyst Associated to Fat Dissemination at the Cortical and Cisternal Cerebral Spaces.

This study focuses on CT and MR studies of adult patient with giant lesion of the posterior cranial fossa associated with micro- and macroaccumulations with density and signal like "fat" at the level of the cortical and cisternal cerebral spaces. This condition is compatible with previous asymptomatic ruptured dermoid cyst. Histological findings confirm the hypothesis formulated using the imaging. We also integrate elements of differential diagnosis by another giant lesion of the posterior cranial fossa.

Elderly patient with dural sinus thrombosis leading to abnormal medullary veins and cerebral venous infarctions.

We present a patient affected by a rapid neurological decline that was connected to subacute partial thrombosis of the straight sinus and associated with dilated superficial and deep medullary veins. An MRI scan confirmed signal alterations compatible with vascular disease and partial thrombosis of the straight sinus associated with dilated superficial and deep medullary veins of the cerebral white matter. Later, another MRI scan showed a replacement of the extensive white matter signal abnormalities, on FSE T2 and FLAIR sequences, by chronic vascular lesions.