Thewjitcharoen Yotsapon, Nakasatien Soontaree, Veerasomboonsin Veekij, Tsoi Sandra T F, Lim Cadmon K P, Himathongkam Thep
Diabetes, Thyroid, and Endocrine Center, Vimut-Theptarin Hospital, Bangkok, Thailand.
Department of Radiology, Vimut-Theptarin Hospital, Bangkok, Thailand.
Am J Case Rep. 2025 Apr 5;26:e947141. doi: 10.12659/AJCR.947141.
BACKGROUND Neurofibromatosis type 1 (NF1) is a common genetic condition; 0.1-5.7% of patients with NF1 will develop pheochromocytomas in their lifetime. However, other causes of hypertension (HT) in young patients can be present, and polycystic liver disease is not a part of NF1 syndrome. Polycystic liver disease had been described among patients with heterozygotic polycystic kidney and hepatic disease 1 (PKHD1) variant. We report a rare case of a young patient with NF1 who presented with HT and polycystic liver disease. CASE REPORT A 37-year-old Thai woman with history of NF-1 (clinically diagnosed at the age of 20 years from presence of cafe-au-lait spots and neurofibromas) had HT for 2 years without other symptoms. Abdominal computed tomography revealed polycystic liver disease and a simple renal cyst with both adrenal glands normal. Laboratory studies showed normal results. Whole-exome sequencing (WES) confirmed the molecular diagnosis of NF1 with heterozygous pathogenic variants c.5268+1G>A of NF1 and heterozygous pathogenic variants c.7594_7597del of PKHD1 gene. Given the results of genetic testing and no other identified causes of HT, co-occurrence of NF1 and HT-associated heterozygotic PKHD1 variant was diagnosed. CONCLUSIONS Our case highlights the diagnostic challenges of atypical phenotypes among individuals with NF1, which can depend on the background of other genes. With increasing affordability of WES, its utility in uncovering the possibility of being affected by 2 inherited genetic conditions should be considered when findings are incompatible with the primary disease.
1型神经纤维瘤病（NF1）是一种常见的遗传性疾病；0.1%至5.7%的NF1患者一生中会发生嗜铬细胞瘤。然而，年轻患者高血压（HT）的其他病因也可能存在，多囊肝病并非NF1综合征的一部分。多囊肝病已在携带杂合性多囊肾和肝病1（PKHD1）变异的患者中被描述。我们报告了1例罕见的患有NF1的年轻患者，其表现为高血压和多囊肝病。病例报告：一名37岁的泰国女性，有NF - 1病史（20岁时因存在咖啡牛奶斑和神经纤维瘤临床诊断），患高血压2年，无其他症状。腹部计算机断层扫描显示多囊肝病和一个单纯肾囊肿，双侧肾上腺正常。实验室检查结果正常。全外显子测序（WES）证实了NF1的分子诊断，存在NF1基因杂合性致病变异c.5268 + 1G>A以及PKHD1基因杂合性致病变异c.7594_7597del。鉴于基因检测结果且未发现其他HT病因，诊断为NF1与HT相关的杂合性PKHD变异共存。结论：我们的病例突出了NF1个体中非典型表型的诊断挑战，这可能取决于其他基因背景。随着WES成本的降低，当检查结果与原发性疾病不相符时，应考虑其在揭示受2种遗传性疾病影响可能性方面的作用。
