Collado-Ortiz Miguel Angel, Shkurovich-Bialik Paul, González-De Leo Stefany, Arch-Tirado Emilio
Neurofisiología clínica, The American British Cowdray Medical Center.
Cir Cir. 2007 Mar-Apr;75(2):119-22.
We report a case of type I spinal muscular atrophy (SMA), also known as Werdnig-Hoffmann disease.
This was a descriptive case report. The patient was in the pediatric intensive care unit of a medical center.
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.
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.
我们报告一例I型脊髓性肌萎缩症（SMA），也称为韦尔尼克 - 霍夫曼病。
这是一篇描述性病例报告。患者在一家医疗中心的儿科重症监护病房。
该患者是一名5个半月大的男性，从另一家医院急诊入院，诊断为肺炎伴右肺尖肺不张，临床病情进展不佳。患者表现出急性呼吸衰竭症状以及全身肌肉无力。听诊显示散在的湿啰音、干啰音和肢体张力减退。鉴于其呼吸状况，他被收入儿科重症监护病房并进行了插管。胸部X线显示胸廓狭窄，伴有肺尖浸润和左肺门旁肺不张。在重症监护病房的头几天，由于患者出现低氧血症和心动过缓，无法成功拔管。由于全身肌肉无力怀疑患有脊髓性肌萎缩症；因此，进行了活检和神经生理学研究，结果显示为轴索性运动性多神经病，伴有舌肌束颤和慢性失神经支配的体征。病理科报告为神经源性束状萎缩，基因分析通过血液检测样本支持了诊断，显示SMN1基因第7外显子缺失的纯合状态。入院15天后，患者对心肺复苏操作出现严重呼吸和心力衰竭。
1型脊髓性肌萎缩症是一种罕见病，文献报道的病例较少，但由于其严重影响，儿科医生熟悉这种疾病很重要。
