Furthner D, Biebl A, Weinzettel R, Schmitt K, Lahr G, Ebetsberger G, Rittinger O, Schulz A S
Department of Paediatrics, Children's Hospital Linz, Linz, Austria.
Klin Padiatr. 2010 May;222(3):180-3. doi: 10.1055/s-0029-1233492. Epub 2009 Nov 10.
We report on the fatal clinical course of a 3 year old male Turkish patient suffering from osteopetrosis caused by a homozygous mutation in the chloride channel gene ClCN7 with developing pancytopenia and severe neurological impairment. Hepatosplenomegaly due to extramedullary hematopoesis, severe transfusion-dependent anemia and growth failure initially suggested metabolic or oncologic disorder. Particular haematological parameters like tear drop cells basophilic punctation of the polymorphonuclear cells in the absence of haemolysis caused the diagnostic X-ray investigations of the skull and vertebral column. Raised serum creatinkinase-BB isoenzyme and genetic testing were in line with the diagnose of osteopetrosis at an age of 2(1/2) years.
Osteopetrosis is a rare but considerable differential diagnose for unclarified change in haematopoetic cell lines combined with severe neurological symptoms mimicking metabolic or haematological disease. Because of this rare disease a consensus protocol for diagnostics, treatment and follow up of patients suffering from osteopetrosis is recently worked out from the European Group of Blood and Marrow Transplantation (EBMT) and the European Society for Immundeficiencies (ESID) to build up a central registry for this disease (available by ansgar.schulz@uniklinik-ulm.de).
我们报告了一名3岁土耳其男性患者的致命临床病程，该患者患有由氯离子通道基因ClCN7纯合突变引起的骨硬化症，并出现全血细胞减少和严重神经功能障碍。由于髓外造血导致肝脾肿大、严重的依赖输血的贫血和生长发育迟缓，最初提示代谢或肿瘤性疾病。在无溶血情况下，特殊的血液学参数如泪滴状细胞、多形核细胞嗜碱性点彩，促使对头骨和脊柱进行诊断性X线检查。血清肌酸激酶 - BB同工酶升高和基因检测结果与2岁半时骨硬化症的诊断相符。
骨硬化症是一种罕见但重要的鉴别诊断，用于解释造血细胞系不明变化并伴有类似代谢或血液系统疾病的严重神经症状。由于这种罕见疾病，欧洲血液和骨髓移植组（EBMT）和欧洲免疫缺陷学会（ESID）最近制定了骨硬化症患者诊断、治疗和随访的共识方案，以建立该疾病的中央登记处（可通过ansgar.schulz@uniklinik-ulm.de获取）。
