Thurberg Beth L
Department of Pathology, Sanofi Genzyme, Framingham, MA, USA.
Mol Genet Metab Rep. 2020 Jul 16;24:100626. doi: 10.1016/j.ymgmr.2020.100626. eCollection 2020 Sep.
Acid sphingomyelinase deficiency (ASMD; also known as Niemann-Pick Disease [NPD] A and B) is a rare lysosomal storage disease characterized by the pathological accumulation of sphingomyelin within multiple cell types throughout the body. The infantile neurovisceral (ASMD type A, also known as Niemann-Pick Disease type A) form of the disease is characterized by markedly low or absent enzyme levels resulting in both visceral and severe neurodegenerative involvement with death in early childhood. We report here the clinical course and autopsy findings in the case of a 3 year old male patient with infantile neurovisceral ASMD. A comprehensive examination of the autopsy tissue was conducted, including routine paraffin processing and staining, high resolution light microscopy and staining for sphingomyelin, and ultrastructural examination by electron microscopy. Profound sphingomyelin accumulation was present in virtually every organ and cell type. We report the clinicopathologic correlations of these findings and discuss the relevance of these results to the clinical practice of physicians following all patients with ASMD. This case represents one of the most extensive and detailed examinations of ASMD type A to date.
酸性鞘磷脂酶缺乏症（ASMD；也称为尼曼-匹克病[NPD]A 型和 B 型）是一种罕见的溶酶体贮积病，其特征是鞘磷脂在全身多种细胞类型中病理性蓄积。该疾病的婴儿神经内脏型（ASMD A 型，也称为尼曼-匹克病 A 型）的特点是酶水平显著降低或缺乏，导致内脏和严重的神经退行性病变，并在幼儿期死亡。我们在此报告一名 3 岁男性婴儿神经内脏型 ASMD 患者的临床病程和尸检结果。对尸检组织进行了全面检查，包括常规石蜡处理和染色、高分辨率光学显微镜检查和鞘磷脂染色，以及电子显微镜超微结构检查。几乎每个器官和细胞类型中都存在大量鞘磷脂蓄积。我们报告了这些发现的临床病理相关性，并讨论了这些结果与所有 ASMD 患者随访医生临床实践的相关性。该病例是迄今为止对 A 型 ASMD 进行的最全面、最详细的检查之一。
