Bacchetta J, Douvillez B, Warin L, Girard S, Pagès M-P, Rebaud P, Bertrand Y
Service de pédiatrie, centre hospitalier de Villefranche-sur-Saône, France.
Arch Pediatr. 2008 Aug;15(8):1315-9. doi: 10.1016/j.arcped.2008.04.030. Epub 2008 Jul 1.
Blueberry Muffin baby is a rare neonatal skin disorder. Many causes are known, examples are congenital infections, hemolysis and tumors. We report on a newborn presenting with Blueberry Muffin syndrome and an adrenal mass which lead to the diagnosis of neuroblastoma. Actually, it corresponded to an acute monoblastic leukaemia with an adrenal localization and a cerebrospinal fluid involvement. Leukaemia should always be considered in such patients, even in the absence of blasts on white blood cells count and bone marrow examination, as in this patient. This observation was also unusual due to spontaneous remission. The patient is in complete remission at 1 year follow-up.
蓝莓松饼宝宝是一种罕见的新生儿皮肤疾病。已知有许多病因,例如先天性感染、溶血和肿瘤。我们报告了一名患有蓝莓松饼综合征及肾上腺肿块的新生儿,最终诊断为神经母细胞瘤。实际上,其对应的是一例具有肾上腺定位和脑脊液受累的急性单核细胞白血病。即使像该患者一样白细胞计数和骨髓检查未发现原始细胞,对于此类患者也应始终考虑白血病的可能。该病例因自发缓解也很不寻常。患者在1年随访时处于完全缓解状态。