Department of Pediatrics, National Cheng Kung University Hospital, Tainan, Taiwan.
J Formos Med Assoc. 2009 Oct;108(10):803-7. doi: 10.1016/S0929-6646(09)60408-3.
BACKGROUND/PURPOSE: LEOPARD syndrome (LS) is a rare, autosomal dominant disorder. The typical clinical presentation includes multiple lentigines and cardiac defects. Mutation analysis of the PTPN11 gene is feasible. We report four cases of LS, which were confirmed by molecular genetic study.
The clinical features and mutations of the four patients were summarized.
The diagnosis of all four patients was made when lentigines appeared during childhood. Three cases had hypertrophic cardiomyopathy. No electrocardiographic conduction abnormality was noted in any of the cases. Three patients had hypertelorism and three had short stature. Two patients, identical twins, presented with the atypical phenotype of tongue protrusion and hepatosplenomegaly at birth. Twin B had mild mental retardation. Case 4 had moderate hearing impairment. Point mutation of the PTPN11 gene was found in all patients.
LS has typical skin manifestations. All patients should undergo a comprehensive examination, especially echocardiography and electrocardiography. The diagnosis can be confirmed by genetic study.
背景/目的：LEOPARD 综合征（LS）是一种罕见的常染色体显性遗传疾病。其典型的临床表现包括多发性痣和心脏缺陷。PTPN11 基因突变分析是可行的。我们报告了 4 例 LS 患者，这些患者均通过分子遗传学研究得到了证实。
总结了 4 例患者的临床特征和突变情况。
所有 4 例患者的诊断均在儿童期出现痣时做出。3 例患者患有肥厚型心肌病。在任何患者中均未发现心电图传导异常。3 例患者存在内斜视，3 例患者存在身材矮小。2 例同卵双胞胎患者出生时表现为舌突出和肝脾肿大的非典型表型。双胞胎 B 存在轻度智力障碍。第 4 例患者存在中度听力障碍。所有患者均发现 PTPN11 基因突变。
LS 具有典型的皮肤表现。所有患者均应进行全面检查，尤其是超声心动图和心电图检查。通过遗传学研究可以确诊。
