Rodríguez-Velasco Alicia, Rodríguez-Zepeda María Del Carmen, Ortiz-Hidalgo Carlos
UMAE, Hospital de Pediatría del Centro Médico Nacional IMSS, Department of Pathology. Ciudad de México, Mexico.
UMAE, Hospital de Pediatría del Centro Médico Nacional IMSS Department of Hematology. Ciudad de México, Mexico.
Autops Case Rep. 2019 Apr 5;9(2):e2018081. doi: 10.4322/acr.2018.081. eCollection 2019 Apr-Jun.
Infantile systemic juvenile xanthogranuloma (ISJXG) is an uncommon form of juvenile xanthogranuloma, a non-Langerhans cell proliferation of infancy and early childhood. In a small percentage of patients, the visceral involvement-most commonly to the central nervous system, liver, spleen, or lungs-may be associated with severe morbidity, and eventually fatal outcome. Here we describe the clinical and pathological findings of a 28-day-old girl with ISJXG who died with respiratory distress syndrome. She had few cutaneous lesions but massive liver and spleen infiltration; other affected organs were multiple lymph nodes, thoracic parasympathetic nodule, pleura, pancreas, and kidneys. Additional findings were mild pulmonary hypoplasia and bacteremia. Immunohistochemistry on fixed tissues is the standard for diagnosis. Immunophenotype cells express CD14, CD68, CD163, Factor XIIIa, Stabilin-1, and fascin; S100 was positive in less than 20% of the cases; CD1a and langerin were negative. No consistent cytogenetic or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death.
婴儿系统性幼年黄色肉芽肿（ISJXG）是幼年黄色肉芽肿的一种罕见形式，后者是一种发生于婴儿期和儿童早期的非朗格汉斯细胞增殖性疾病。在一小部分患者中，内脏受累——最常见于中枢神经系统、肝脏、脾脏或肺部——可能与严重的发病情况相关，并最终导致致命后果。在此，我们描述了一名患有ISJXG的28日龄女孩的临床和病理表现，该女孩死于呼吸窘迫综合征。她仅有少量皮肤病变，但肝脏和脾脏有大量浸润；其他受累器官包括多个淋巴结、胸段副交感神经节、胸膜、胰腺和肾脏。另外的发现是轻度肺发育不全和菌血症。固定组织的免疫组织化学检查是诊断的标准。免疫表型细胞表达CD14、CD68、CD163、凝血因子XIIIa、稳定素-1和丝状肌动蛋白；S100在不到20%的病例中呈阳性；CD1a和朗格素呈阴性。尚未发现一致的细胞遗传学或分子遗传学缺陷。该病例表明尸检是一种便捷的工具，因为临床上未考虑到的肝脏浸润导致了限制性呼吸功能障碍。我们认为，这是直接死因。
