A 15-year-old male with isolated left-sided hearing loss for more than 3 months was referred to the department of otorhinolaryngology with the suspected diagnosis of cholesteatoma. A computed tomography (CT) scan of the temporal bone, showing osseous destructions in the area of the jugular foramen but relatively little affection of the middle ear, had been performed prior to referral (Fig. 1). The patient had no vertigo, pain, or otorrhea, and the auditory canal and tympanic membrane appeared normal. For further evaluation, pure-tone audiometry showing a 40 to 75 dB conductive hearing loss over all frequencies, tympanometry showing a flat curve, and magnetic resonance imaging (MRI) of the temporal bone were performed. The first MRI images showed a lesion with polycyclic borders and osseo-destructive components in the left temporal bone.
PatientID: None
KindredID: 1
Case: M, 15Y0M, Ethnicity Unknown
DiseaseAssertion: VHL
FamilyInfo: None
CasePresentingHPOs: HP:0030393 (Endolymphatic sac tumor)
CaseHPOFreeText: The patient had isolated left-sided hearing loss for more than 3 months. MRI showed a highly enhancing mass in the left temporal bone in the region of the jugular foramen, that measured 3.4 × 2.3 × 3.3 cm and exhibited a salt and pepper pattern in some areas. Definite histology confirmed ELST, and because a radical resection could not be guaranteed due to the highly infiltrative growth of the tumor, postoperative stereotactic radiation was initiated. The patient also had angiomatous lesions of the nasal and pharyngeal mucosa.
CaseNotHPOs: N/A
CaseNotHPOFreeText: The patient was screened for other VHL-associated tumors by fundoscopy and whole body positron-emission tomography-computed tomography, which did not show any pathological findings.
CasePreviousTesting: N/A
PreviouslyPublished: N/A
SupplementalData: N/A
Variant: p.N78S (c.233A>G)
CaseProblemVariantFreeText: N/A
LegacyVariant: N/A
ClinVarID: 93326 https://www.ncbi.nlm.nih.gov/clinvar/variation/93326/
CAID: N/A
gnomAD: N/A
VariantEvidence: N/A
MutationType: missense_variant; transition
CivicName: N78S (c.233A>G)
MultipleGeneVariants: N/A