Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Yotsapon Thewjitcharoen; Soontaree Nakasatien; Veekij Veerasomboonsin; Sandra T.F. Tsoi; Cadmon K.P. Lim; Thep Himathongkam

doi:10.12659/AJCR.947141

05 April 2025 : Case report Thailand

Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

Challenging differential diagnosis, Rare coexistence of disease or pathology

Yotsapon Thewjitcharoen^1ABCDEF*, Soontaree Nakasatien

^1BE, Veekij Veerasomboonsin

^2BE, Sandra T.F. Tsoi^345BC, Cadmon K.P. Lim^345CDEF, Thep Himathongkam^1DE

DOI: 10.12659/AJCR.947141

Am J Case Rep 2025; 26:e947141

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Figure 2. Abdominal contrast-enhanced computed tomography showed A) innumerable liver cysts varying in size up to 2.0 cm scattered in both hepatic lobes, B) normal adrenal glands (arrow head) without any abdominal mass, C) a simple renal cyst (sized about 0.9 cm, arrow head) at lower pole of left kidney.

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Co-Occurrence of Neurofibromatosis Type 1 and Polycystic Liver Disease: A Case of Hypertension with PKHD1 Variant

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