Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?

BACKGROUND: Amyotrophic Lateral Sclerosis (ALS) is a rare, progressive, and fatal neurodegenerative disease due to upper and lower motor neuron involvement with symptoms classically occurring in adulthood with an increasing recognition of juvenile presentations and childhood neurodegenerative disorders caused by genetic variants in genes related to Amyotrophic Lateral Sclerosis. The main objective of this study is detail clinical, radiological, neurophysiological, and genetic findings of a Brazilian cohort of patients with a recent described condition known as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency and compare with other cases described in the literature and discuss whether the clinical picture related to SOD1 protein deficiency is a new entity or may be represent a very early-onset form of Amyotrophic Lateral Sclerosis. METHODS: We conducted a case series report which included retrospective data from five Brazilian patients with SOD1 protein deficiency of a Brazilian reference center for Neuromuscular Disorders. Clinical data were obtained from a review of the medical records and descriptive statistics and variables were summarized using counts and percentages of the total population. RESULTS: All 5 patients presented with a childhood-onset neurodegenerative disorders characterized by spastic tetraplegia with axial hypotonia in all cases, with gestational history showing polyhydramnios in 4/5 and intrauterine growth restriction in 3/5 patients, with most patients initially presenting a normal motor development until the six month of life or during the first year followed by a rapidly progressive motor decline with severe dysphagia and respiratory insufficiency in all patients accompanied by cognitive impairment in 3/5 patients. All patients were homozygous for the c.335dupG (p.Cys112Trpfs*11) mutation in the SOD1 gene with completely decreased enzyme activity. CONCLUSIONS: This case series is the biggest data collection of the new recent clinical entity described as Spastic Tetraplegia and Axial Hypotonia (STAHP) due to SOD1 deficiency.

Functional outcomes and survival of patients with oral and oropharyngeal cancer after total glossectomy / Resultados funcionais e sobrevida de pacientes com câncer de cavidade oral e orofaringe submetidos à glossectomia total

Abstract Introduction: Cancer of the oral cavity and oropharynx presents aggressive behavior and its diagnosis is, in most cases, performed in advanced stages. Total glossectomy is a therapeutic option in locally advanced cancer, and the only one in the recurrent or residual disease, after chemoradiotherapy. Objective: To evaluate the clinical-epidemiological profile, postoperative complications, survival rates and functional aspects of patients with oral cavity and oropharynx cancer after total glossectomy. Methods: It was a retrospective study where 22 patients were included with oral cavity and oropharyngeal cancer after total glossectomy at the Hospital Regional do Vale do Paraíba, em Taubaté, São Paulo. Results: All patients were male, with a median age of 57 years, most of tumors are located in the tongue and floor of the mouth and classified as stage IVa. Total glossectomy as initial treatment was performed in 18 and as salvage in four patients. The major pectoralis myocutaneous flap was used for reconstruction in all cases. The main postoperative complication was wound infection and salivary fistula. Conclusion: Overall survival was 19% and cancer-specific survival was 30.8% in five years. Eight patients were rehabilitated for exclusive oral feeding without the dependence tracheostomy and enteral tube, all with an overall survival greater than 15 months.

Resumo Introdução: O câncer da cavidade oral e da orofaringe apresenta comportamento agressivo e seu diagnóstico é, na maioria dos casos, realizado em fases avançadas. A glossectomia total é uma opção terapêutica no câncer localmente avançado e a única no resgate de pacientes com doença residual ou recorrente, após a quimiorradioterapia. Objetivo: Avaliar o perfil clínico-epidemiológico, as complicações pós-operatórias, as taxas de sobrevida e os aspectos funcionais de pacientes com câncer da cavidade oral e da orofaringe submetidos à glossectomia total. Método: Estudo retrospectivo em que foram incluídos 22 pacientes com câncer de cavidade oral e orofaringe submetidos à glossectomia total no Hospital Regional do Vale do Paraíba, em Taubaté, São Paulo. Resultados: Todos os pacientes eram do gênero masculino, com mediana de 57 anos, com tumores principalmente na língua e no assoalho da boca e classificados, em sua maioria, como estádio clínico IVa. A glossectomia total como tratamento inicial foi realizada em 18 e como resgate em quatro pacientes. O retalho miocutâneo peitoral maior foi utilizado para a reconstrução em todos os casos. A principal complicação pós-operatória foi a infecção da ferida operatória e a fístula salivar. Conclusão: A sobrevida global foi de 19% e a específica por câncer de 30,8% em cinco anos. Oito pacientes foram reabilitados para alimentação oral exclusiva sem a dependência de traqueostomia e ou de dieta enteral, todos com sobrevida global maior do que 15 meses.

Functional outcomes and survival of patients with oral and oropharyngeal cancer after total glossectomy.

INTRODUCTION: Cancer of the oral cavity and oropharynx presents aggressive behavior and its diagnosis is, in most cases, performed in advanced stages. Total glossectomy is a therapeutic option in locally advanced cancer, and the only one in the recurrent or residual disease, after chemoradiotherapy. OBJECTIVE: To evaluate the clinical-epidemiological profile, postoperative complications, survival rates and functional aspects of patients with oral cavity and oropharynx cancer after total glossectomy. METHODS: It was a retrospective study where 22 patients were included with oral cavity and oropharyngeal cancer after total glossectomy at the Hospital Regional do Vale do Paraíba, em Taubaté, São Paulo. RESULTS: All patients were male, with a median age of 57 years, most of tumors are located in the tongue and floor of the mouth and classified as stage IVa. Total glossectomy as initial treatment was performed in 18 and as salvage in four patients. The major pectoralis myocutaneous flap was used for reconstruction in all cases. The main postoperative complication was wound infection and salivary fistula. CONCLUSION: Overall survival was 19% and cancer-specific survival was 30.8% in five years. Eight patients were rehabilitated for exclusive oral feeding without the dependence tracheostomy and enteral tube, all with an overall survival greater than 15 months.