RESUMO
BACKGROUND: We report a case of type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease. METHODS: This was a descriptive case report. The patient was in the pediatric intensive care unit of a medical center. CASE REPORT: The patient was a 5 1/2 month-old male admitted to the emergency room from another hospital with a diagnosis of pneumonia with right apical atelectasis and with poor clinical evolution. The patient showed symptoms of acute respiratory failure and also generalized muscular weakness. Auscultation showed disseminated crackles, ronchi and hypotonic limbs. In view of his respiratory condition he was admitted to the Pediatric Intensive Care Unit and intubated. Chest X-ray showed a narrow chest with an apical infiltration and a left parahilar atelectasis. During the first days in the ICU, successful extubation was not possible because the patient showed hypoxemia and bradycardia. SMA was suspected because of the general muscular weakness; therefore, biopsy and neurophysiology studies were performed, demonstrating an axonal motor polyneuropathy with tongue fasciculations and signs of chronic denervation. The Pathology Service reported neurogenic fascicular atrophy and genetic analysis supported the diagnosis by blood test sampling, revealing a homozygous state for a deletion on exon 7 of the gene SMN1. Fifteen days after his admission to the hospital, the patient showed severe respiratory and heart failure to the CPR maneuvers. CONCLUSIONS: Type 1 SMA is a rare entity with few cases reported in the literature, but it is important for the pediatrician to be familiar with this disease because of its severe implications.
Assuntos
Atrofias Musculares Espinais da Infância/diagnóstico , Biópsia , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/deficiência , Proteína de Ligação ao Elemento de Resposta ao AMP Cíclico/genética , Evolução Fatal , Humanos , Lactente , Masculino , Músculo Esquelético/patologia , Proteínas do Tecido Nervoso/deficiência , Proteínas do Tecido Nervoso/genética , Condução Nervosa , Pneumonia/complicações , Proteínas de Ligação a RNA/genética , Insuficiência Respiratória/etiologia , Proteínas do Complexo SMN , Deleção de Sequência , Atrofias Musculares Espinais da Infância/genética , Atrofias Musculares Espinais da Infância/patologia , Proteína 1 de Sobrevivência do Neurônio MotorRESUMO
BACKGROUND: To evaluate hearing loss severity according to Brock's gradient and to compare it with the audiometric curve during cisplatin treatment in children with retinoblastoma. METHODS: This was an observational retrospective and retrolective study. Twenty children with the diagnosis of retinoblastoma under cisplatin treatment were included. Audiometric testing was performed before treatment, after the second and fourth doses, and after the final dose. RESULTS: Decreased audition was observed in 100% of the cases. Ototoxicity can be observed with cumulative doses of 240 mg/m(2) and higher. No improvement in audition was observed and the audition loss progressed from high to medium frequencies; 15% of the patients showed a grade II loss of high frequencies at the end of the second dose. This level was observed in 95% of the cases at the end of treatment. Two years after completion of therapy, no patient showed auditory recovery. Area below the curve showed higher sensitivity to identify initial auditory loss. CONCLUSIONS: Evaluation of audition with Brock's gradient can be performed. The area under the curve is a useful method to identify minor changes in serial conventional audiometry.