背景:婴儿桑霍夫病是一种罕见的遗传性疾病,会逐渐破坏大脑和脊髓中的神经细胞,分类为溶酶体贮积症。它是鞘脂代谢的常染色体隐性遗传疾病,由溶酶体酶β-己糖胺酶A和B的缺乏引起。由此产生的GM2神经节苷脂在白质的灰质核和髓磷脂鞘中的积累导致最终严重的神经元功能障碍和神经变性。
方法:我们评估了一名来自阿拉伯联合酋长国的3.5岁科摩罗女孩,她因室间隔缺损而反复出现胸部感染伴心力衰竭,神经回归,反复发作,黄斑上有樱桃红色斑点。她有大头畸形,轴向低张力,高音,胃食管反流.没有器官肿大。脑磁共振成像,代谢测试,基因突变证实了诊断。尽管多学科治疗,那个女孩死于疾病。
结论:虽然早期的心脏受累可以观察到新的突变,在婴儿桑霍夫病中发现室间隔缺损的关联极为罕见。神经回归通常在6月龄左右开始。我们报告此病例是因为先天性心脏病与潜在的婴儿Sandhoff病和症状性心力衰竭在出生后的第一个月内异常相关,最终导致致命的后果。
BACKGROUND: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration.
METHODS: We evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect,
neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness.
CONCLUSIONS: Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease.
Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.