Blended Phenotype of Pelger-Huet Anomaly with Osteochondroma and Autosomal Recessive Deafness with Enlarged Vestibular Aqueduct

Pelger-Huet anomaly (PHA) is a benign hematological anomaly that is characterized by impaired lobulation of neutrophils with a coarse nuclear chromatin. Skeletal abnormalities may accompany this anomaly. Autosomal recessive deafness-4 (DFNB4) with enlarged vestibular aqueduct (EVA) comprises a phenotypic spectrum of sensorineural hearing loss (SNHL). We report a case with SNHL, multiple skeletal anomalies including osteochondroma, developmental delay, and PHA. Molecular studies revealed a heterozygous pathogenic variant in the <i>LBR</i> gene and a homozygous likely pathogenic variant in the <i>SLC26A4</i> gene. Due to these 2 variants, he was diagnosed with PHA and DFNB4 with EVA. If goiter develops, DFNB4 with EVA is named Pendred syndrome (PDS), so the patient will be followed up for this condition, and in the current literature, there is no case with PDS and PHA co-existence either. PHA may be accompanied by multiple skeletal abnormalities. In our case, there is also concomitance with osteochondroma. Although these are independent and distinct diagnoses, we present this case due to the concomitance of these situations.

Clinical Implication of Caloric and Video Head Impulse Tests for Patients With Enlarged Vestibular Aqueduct Presenting With Vertigo

Background: By examining the clinical features and results of video head impulse test (vHIT) and caloric tests in patients with enlarged vestibular aqueduct (EVA) presenting with vertigo, we aimed to investigate the function of angular vestibulo-ocular reflex (VOR) and its clinical implications.Methods: Nine patients with EVA manifesting with vertigo were enrolled. The medical history, audiological examination, imaging, and the results of the caloric test and the vHIT were analyzed.Results: Of the nine patients with EVA (eight bilateral and one unilateral case), five were pediatric cases. All 17 ears exhibited sensorineural hearing loss (SNHL). Enlarged vestibular aqueduct patients can present with recurrent (seven cases) or single (two cases) vertigo attack, trauma-induced (two cases), or spontaneous (seven cases) vertigo. Diminished caloric responses were observed in 77.8% (7/9) of the patients (four cases unilaterally and three bilaterally), while unilateral abnormal vHIT results in 11.1% (1/9) patients. Abnormal caloric and normal horizontal vHIT responses were found in 66.7% (6/9) of EVA patients.Conclusions: Vestibular manifestations in EVA are diverse. Enlarged vestibular aqueduct patients with vertigo can present with a reduced caloric response and normal horizontal vHIT, and this pattern of angular VOR impairment was also found in other hydropic ear diseases.

Genetic Determinants of Non-Syndromic Enlarged Vestibular Aqueduct: A Review

Hearing loss is the most common sensorial deficit in humans and one of the most common birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic origin and may arise from pathogenic sequence alterations in one of more than 300 genes known to be involved in the hearing function. Hearing loss of genetic origin is frequently associated with inner ear malformations; of these, the most commonly detected is the enlarged vestibular aqueduct (EVA). EVA may be associated to other cochleovestibular malformations, such as cochlear incomplete partitions, and can be found in syndromic as well as non-syndromic forms of hearing loss. Genes that have been linked to non-syndromic EVA are SLC26A4, GJB2, FOXI1, KCNJ10, and POU3F4. SLC26A4 and FOXI1 are also involved in determining syndromic forms of hearing loss with EVA, which are Pendred syndrome and distal renal tubular acidosis with deafness, respectively. In Caucasian cohorts, approximately 50% of cases of non-syndromic EVA are linked to SLC26A4 and a large fraction of patients remain undiagnosed, thus providing a strong imperative to further explore the etiology of this condition.

CT and MRI Evaluation of Bilateral Enlarged Vestibular Aqueduct Syndrome with Curved Reconstructions – A Case Report and Short Review of Literature

Enlarged Vestibular Aqueduct Syndrome (EVAS) is a known, but rare entity. It represents a common cause of congenital sensorineural hearing loss, diagnosed more often in children with a slight female predominance. Herein, we report a case of bilateral Enlarged Vestibular Aqueduct Syndrome [EVAS] in a 26-year-old male. As it is a subtle finding on imaging, the interpreting radiologist must be aware of this entity to make the diagnosis. The diagnostic CT and MRI images of this patient are given along with curved CT and MRI reconstructions along the plane of the Vestibular Aqueduct [VA] extending to the endolymphatic sac [ES]. The CT reconstructions demonstrate the bony anatomy in great detail and the bilateral dilated VA. These help in excluding diseases like otospongiosis and inner ear anomalies. The curved MRI reconstruction CISS images through the VA demonstrate the entire endolymph channel. The reconstructed MRI Images clearly demonstrate a patent endolymph channel without any focal abnormality such as stricture, or other associated congenital anomalies.