PDF(Pubmed)
Abstract：
Germline pathogenic variants found in the phosphatase and tensin homolog gene are associated with a range of rare syndromes that collectively fall under the umbrella of phosphatase and tensin homolog hamartoma tumor syndromes. Due to the wide array of possible clinical presentations and the varying degrees of symptom severity, many individuals with phosphatase and tensin homolog hamartoma tumor syndromes might remain undiagnosed for an extended period. We describe a case of a male child who received the diagnosis at the age of 12. His clinical features included macrocephaly, hypertrophy in the left arm, thyroid nodules, penile freckles, developmental delay, and an autism spectrum disorder. Whole exome sequencing revealed a de novo heterozygous variant in the phosphatase and tensin homolog. The case highlights the diverse and complex nature of phosphatase and tensin homolog hamartoma tumor syndromes, emphasizing the necessity for early diagnosis, multidisciplinary care, and surveillance protocols, offering the potential for improved prognostic outcomes and enhanced quality of life for affected individuals.
摘要：
在磷酸酶和张力蛋白同源基因中发现的种系致病变异与一系列罕见综合征相关，这些罕见综合征共同属于磷酸酶和张力蛋白同源错构瘤肿瘤综合征的范畴。由于广泛的可能的临床表现和不同程度的症状严重程度，许多患有磷酸酶和张力蛋白同源错构瘤综合征的个体可能在很长一段时间内仍未被诊断。我们描述了一个男孩在12岁时接受诊断的病例。他的临床特征包括大头畸形,左臂肥大,甲状腺结节,阴茎雀斑,发育迟缓,和自闭症谱系障碍。全外显子组测序揭示了磷酸酶和张力蛋白同源物中的从头杂合变体。该病例突出了磷酸酶和张力蛋白同源错构瘤肿瘤综合征的多样性和复杂性，强调早期诊断的必要性，多学科护理，和监控协议，为受影响的个体提供改善预后结果和提高生活质量的潜力。
