PMC9618664_01
CT and MRI scan images of the patient. (A) Cranial MRI showed space- occupying lesions in the right cerebellar hemisphere. (B) Cranial enhanced MRI showed nodular enhancement in the right cerebellar hemisphere lesion (1.0 cm x 0.6 cm). (C) Contrast-enhanced MRI of the head and neck showed narrowing of the space in the fourth ventricle, multiple nodular and tortuous line-like enhancement in the spinal cord from C5 to T2, and round abnormal enhancement in the C6 vertebrae. (D) Abdominal enhanced CT showed multiple round soft tissue density lesions and multiple cystic low-density lesions in both kidneys, multiple low-density lesions of different sizes in the pancreas, and calcifications in the head of the pancreas.
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F1
Contrast-enhanced MRI of the head and cervicothoracic spine (Figure 1) showed nodular enhancement in the lesions of the right cerebellar hemisphere, about 1.0 x 0.6 cm, with clear contour; the fourth ventricle crushed and narrowed, enlargement of the lateral and third ventricles; multiple nodular and tortuous linear enhancement lesions at
First-generation sequencing peak diagram. (A) The proband carried a heterozygous variant at the VHL c.499C>G site. (B) The proband's daughter did not carry this heterozygous mutation. (C) The proband's son did not carry this heterozygous mutation. (D) The proband's only younger brother did not carry this heterozygous mutation.
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F2
This mutation was not detected in the peripheral blood of any other family member (Figure 2).