Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.

BACKGROUND AND PURPOSE: BSCL2 heterozygote mutations are a common cause of distal hereditary motor neuropathies (dHMNs). A series of BSCL2 patients is presented and clinical, neurophysiological and muscle magnetic resonance imaging (MRI) findings are correlated. METHODS: Twenty-six patients from five families carrying the p.N88S mutation were identified. Age of onset, clinical phenotype (dHMN, Charcot-Marie-Tooth, spastic paraplegia), physical examination, disability measured as a modified Rankin Scale score and neurophysiological findings were collected. A whole body muscle MRI had been performed in 18 patients. The pattern of muscle involvement on T1-weighted and short time inversion recovery sequences was analysed. Hierarchical analysis using heatmaps and an MRI Composite Score were generated. Statistical analysis was carried out with STATA SE v.15 (TX, USA). RESULTS: The mean age was 51.54 ± 19.94 years and 14 patients were men. dHMN was the most common phenotype (50%) and five patients (19.23%) showed no findings on examination. Disease onset was commonly in childhood and disability was low (modified Rankin Scale score 1.34 ± 1.13) although median time since onset of disease was 32 years (range 10-47). Charcot-Marie-Tooth-like patients were more disabled and disability correlated with age. On muscle MRI, thenar eminence, soleus and tibialis anterior were most frequently involved, irrespective of clinical phenotype. MRI Composite Score was strongly correlated with disability. CONCLUSION: Patients with the p.N88S BSCL2 gene mutation are phenotypically variable, although dHMN is most frequent and generally slowly progressive. Muscle MRI pattern is consistent regardless of phenotype and correlates with disease severity, probably serving as a reliable outcome measure for future clinical trials.

[Evaluation of the Mullan's technique in the treatment of trigeminal neuralgia]. / Valoración de la técnica de Mullan en el tratamiento de la neuralgia del trigémino.

OBJECTIVE: The aim of the present study is to examine the operative technique and results of the treatment of trigeminal neuralgia (TN) by percutaneous microcompression of the trigeminal ganglion (Mullan's technique) in 20 consecutive patients over 3 years. PATIENTS AND METHODS: The average age of the patients was 63 years. There were 8 men and 12 women. The operative technique is similar to Mullan and Lichtor's original description with some modifications. RESULTS: On average it takes 30 minutes to complete the procedure. On 2 occasions the catheter had to be replaced as the balloon burst without clinical repercussions. Detectable changes were noted in systemic blood pressure and cardiac rhythm in 10 cases. On 17 occasions the radiographic appearance of the balloon was pear-shaped and in the remaining cases it was oval or irregular. Follow-up ranged from 6 months to 3 years. All but 1 patient were initially relieved of pain and it was progressively possible to suspend treatment with carbamazepine. The recurrence rate was 25%. Mean time until recurrence was 18 months. There was no relation between pain location and recurrence. Morbidity: some degree of transient cheek discomfort, herpes simplex perioralis, hypesthesia and masseter weakness were the rule. Meningitis in one case. CONCLUSIONS: Early results indicate that Mullan's technique provides a reliable, safe, cheap and effective, with low morbidity and no mortality.

[Spontaneous syncope as the only sign of Arnold-Chiari type I malformations]. / Síncope espontáneo como único síntoma de la malformación de Arnold-Chiari tipo I. Base fisiopatológica.

We present a patient suffering from spontaneous recurrent syncopes as the sole symptom of Arnold-Chiari type I malformation. The syncopes were attributed to transient compression of neural and/or vascular structures at the cranio-cervical junction by the descended cerebellar tonsils, triggered by an increase in intracranial pressure. The disappearance of symptoms after posterior fossa decompression confirmed our hypothesis.