Middle Ear Fibrosis Contributes to Hearing Loss in Patients With Myhre Syndrome.

On the basis of strong research, universal newborn screening should be performed before age 1 month with repeat or follow-up testing for those who do not pass performed before age 3 months and intervention started before age 6 months. On the basis of strong research and consensus statement, tympanostomy tubes should be considered for individuals with bilateral persistent middle ear effusion for 3 months or greater and a documented conductive hearing loss. On the basis of consensus statement, all children with suspected hearing loss should have an age appropriate hearing test. On the basis of strong research, the most common form of congenital hearing loss is genetic. Most of this is nonsyndromic hearing loss.

Symptoms: Clogged Ears and Muffled Hearing

Myhre syndrome is a rare multisystem genetic disorder that is caused by de novo heterozygous gain-of-function variants in SMAD4. Patients with Myhre syndrome exhibit several phenotypes at different ages such as small size, autism, developmental delay, left-sided heart defects, and hearing loss and often have a characteristic facial appearance. The early clinical diagnosis of Myhre syndrome remains a major challenge, particularly in the first year of life. A Chinese male infant with syndactyly of fingers, hypertelorism, short palpebral fissures, and short philtrum was enrolled into the ENT department of the Chinese PLA General Hospital. Whole exome sequencing analysis was used to detect the disease-causing variant. A literature review of Myhre syndrome was also performed. A recurrent de novo missense variant c.1498A > G p.I500V(p. Ile500Val) in SMAD4 was detected confirming the clinical diagnosis of Myhre syndrome at the age of 38 days. The infant appears to be the youngest reported case of Myhre syndrome. At 23-month follow-up, the affected infant has dysmorphic facial features, growth retardation, and previously undescribed complete syndactyly. Review the literatures noted several common features in Myhre syndrome patients including hearing loss (72.7%), characteristic facial features (26.0%-54.5%), finger and toe abnormalities (3.9%-48.1%), short stature (45.5%), and respiratory (30.0%) and cardiovascular problems (65.0%). Clinicians should have a low threshold to perform genetic testing on patients with features suggesting Myhre syndrome even in the first year of life. Although some individuals with Myhre syndrome have normal hearing, early onset or progressive hearing loss usually occur in one or both ears in most patients, with remarkable phenotypic heterogeneity. Syndactyly may be minor such as typical 2-3 toe involvement, or more complicated as was observed in our patient.

Symptom: Conductive Hearing Loss after Cholesteatoma Surgery

A40-year-old patient presented to the clinic with a history of persistent aural fullness and exacerbating hearing loss on the right. He denied tinnitus, otalgia, headaches, vertigo, facial nerve symptoms, or trauma. His medical history is significant for surgery and radiation for olfactory neuroblastoma (tumor of the anterior skull base above the nose) and a sphenoid mucocele that was endoscopically excised one month before presentation. Physical examination demonstrated bulging of the tympanic membrane and a purple-colored tympanic membrane (Figure 1). The left ear was normal. The audiogram demonstrated a mixed moderately severe to severe hearing loss on the right with a 20-30 dB air-bone gap and mild sensorineural hearing loss on the left (Figure 2).Figure 1: Image of patient’s ear. Arrows point to the tympanic membrane. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.Figure 2: Patient’s audiogram. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.Figure 3: Axial (horizontal) T1 fat saturated without (A) and with (B) gadolinium MRI showing hyperintensity (brighter than brain) in the middle ear, mastoid, and Eustachian tube. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.Figure 4: Coronal (parallel to the face) T2 MRI showing middle ear fluid is slightly hyperintense (brighter) compared with the brain. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.Figure 5: Axial (horizontal) CT of temporal bones showing bulging of the tympanic membrane. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.Figure 6: Axial (horizontal) T2 MRI from 14 years prior showing fluid in Eustachian tube but middle ear with no fluid or cholesterol granuloma. Clinical Consultation, purple ear drum, middle ear cholesterol granuloma.DIAGNOSIS: MIDDLE EAR CHOLESTEROL GRANULOMA Our patient presented with a purplish-red mass bulging from the tympanic membrane. At first, this lesion is suspected to be a hypervascular mass. Vascular masses in the middle ear are uncommon and usually asymptomatic; however, patients may present with nonspecific symptoms such as pulsatile tinnitus, aural fullness, otalgia, and hearing loss. It is important to make the diagnosis before any middle ear surgery to avoid significant blood loss. The differential diagnosis can range from a dehiscent jugular bulb, aberrant internal carotid artery, and glomus tympanicum, to cholesterol granuloma and hemorrhage. A dehiscent high-riding jugular bulb is the most commonly encountered cause for a blue/light purple mass under the tympanic membrane usually in the posterior inferior aspect of the middle ear. It would be unusual for it to be present behind the entire tympanic membrane. The internal jugular vein constitutes the continuum of the dural venous sinuses in the neck and lies below the hypotympanum. However, in rare instances, the bony jugular fossa can be absent, and a jugular bulb may extend above the level of the inferior tympanic annulus and show an indentation in the middle ear. It’s usually asymptomatic. When symptomatic, a high-riding jugular bulb may cause pulsatile tinnitus, conductive hearing loss, and vertigo. Conductive hearing loss can be due to the mass loading of the tympanic membrane, the ossicles, or blockage of the round window. A high-resolution computed tomography (CT) scan usually demonstrates dehiscence of the right bony septum since the dural sinuses and jugular vein are larger on the right. 1 Surgical repair can be performed to improve the conductive hearing loss. Another possible cause of a purplish-red mass behind the tympanic membrane is an aberrant internal carotid artery (ICA). It’s a rare vascular anomaly to be seen in the middle ear (< 1%). The dehiscence of the cervical part of the ICA can be due to an error in embryogenesis (absence of the carotid canal and lateral posterior displacement of the carotid due to the persistence of embryonic vasculature) or acquired factors such as malignancies or skull base surgeries. Based on otoscopic findings and non-specific clinical presentation, an aberrant ICA often will be present in the anterior middle ear (where the carotid artery is located) and can appear purple, white, or red depending on the prominence and dominance of the overlying vasa vasorum (small blood vessels that feed the wall of the carotid artery). When present low in the middle ear, it can mimic a glomus tympanicum – a highly vascular benign tumor of the middle ear. However, a CT scan of the temporal bone helps avoid misdiagnosis, since, in the case of a glomus tumor, the size and aspect of the carotid canal are normal. 2 In addition, glomus tympanicum usually develops later in life, around the fifth to sixth decades and present with pulsatile tinnitus and conductive hearing loss. Another consideration for a purple tympanic membrane is hemorrhage in the middle ear that can be due to direct trauma (e.g., temporal bone fracture) or barotrauma. Barotrauma can occur from aggressive attempts at ear popping with severe Eustachian tube dysfunction, barotrauma following a flight. The patient’s history can usually give the clinician the information needed to understand the etiology. Usually, barotrauma will present with bleeding just anterior to the malleus but can include the entire middle ear. Cholesterol granulomas are cystic lesions commonly involving the petrous apex. Rarely, they can present behind the tympanic membrane as a purple or blue mass. First described by Paparella and Lim 3, two theories attempted to explain the development of cholesterol granuloma. The obstruction-vacuum theory states that the negative pressure due to Eustachian tube dysfunction or pneumatized air cells causes the extravasation of intravascular fluid which leads to chronic mucosal edema and breakdown and subsequent repeated episodes of bleeding. The hemorrhage incites an inflammatory reaction and the formation of cysts surrounding degrading blood products (cholesterol). The cysts gradually expand following a repeat of the described cycle. On the other hand, the exposed marrow hypothesis (primarily discussed for petrous apex cholesterol granuloma) states that the pneumatization of the bone expose the bone marrow to the hyperplastic mucosa. The coaptation of the bone marrow and mucosa will bleed, which will result in the inflammatory reaction and the formation of cysts. 4 Symptoms associated with cholesterol granuloma include hearing loss, tinnitus, aural fullness, headaches, and vestibular symptoms depending on how they expand and what structures are involved. Cholesterol granuloma can be identified by its high signal intensity (brighter than the brain) on FLAIR, T1-, and T2-weighted magnetic resonance imaging (MRI). On CT scan, middle ear cholesterol granulomas tend to not be as aggressive in growth and destruction compared with the petrous apex cholesterol granulomas that can be more aggressive. In order to differentiate the aforementioned lesions, an MRI and CT scan of the temporal bone should be obtained. The patient’s MRI showed hyperintense (brighter than the brain) fluid in the right middle ear on T1 and T2-weighted images of the temporal bones (Figures 345). The temporal bone CT showed fluid in the right middle ear and mastoid (gray color) and bulging of the tympanic membrane without bony destruction. The absence of bony erosion indicates that a tumor is less likely to be present (Figure 6). These findings indicate that the bulging mass is a cholesterol granuloma. Based on the history of our patient, it is most probably due to Eustachian tube dysfunction caused by his previous surgery and radiation for his olfactory neuroblastoma. Cholesterol granuloma can be managed by surgical drainage to prevent further expansion. When the cyst is symptomatic and located in the petrous apex, the treatment is challenging due to its proximity or erosion of critical structures (cochlea, carotid artery, and jugular vein). Its surgical drainage can be accomplished via infracochlear, transmastoid, middle fossa, transarcuate, or retrolabyrinthine approach. Resection is generally not attempted as drainage of the cholesterol granuloma suffices to stop its growth. 5 On the other hand, in case of a middle ear cholesterol granuloma, myringotomy and tube placement in the office treats the problem. The patient underwent a myringotomy in the posterior inferior quadrant and tube placement in the office. Brown (motor oil-like) fluid was aspirated from the middle ear; thus relieving the aural pressure and normalizing the tympanic membrane. BONUS ONLINE VIDEOS: VISUAL DIAGNOSIS Read this month’s Clinical Consultation case, then watch the accompanying videos from Hamid R. Djalilian, MD, to review the patient’s imaging for yourself. Video 1. Axial (horizontal) T1 fat saturated MRI showing the hyperintensity in the middle ear and Eustachian tube. Video 2. Coronal (parallel to the face) T2 MRI showing the fluid consistency on T2 images and the mucocele in sinus. Video 3. Axial (horizontal) T1 fat saturated post-gadolinium MRI showing the subtle inflammatory reaction around the cholesterol granuloma. Video 4. Axial (horizontal) CT of temporal bones showing no destruction of the mastoid. Video 5. Coronal (parallel to the face) CT of temporal bones showing no ossicular destruction. Video 6. Axial (horizontal) T2 MRI from 2008 showing no cholesterol granuloma is present. Watch the patient videos online at thehearingjournal.com.

Year 2000 Position Statement: Principles and Guidelines for Early Hearing Detection and Intervention Programs.

Etiologies of hearing loss in Fanconi Anemia

Deafness is one of the most common communication disorders in humans. Approximate‐ ly one out of every thousand infants is born with a significant hearing deficit. The preva‐ lence of hearing loss increases dramatically with age. By age 65 years, one out of three of us will suffer from hearing impairment sufficient to interfere with the understanding of speech. Hearing impairment is a very heterogeneous disorder with a wide range of caus‐ es. Worldwide, estimates from the World Health Organization are that hearing loss af‐ fects 538 million people. Hearing loss may be classified into three types: sensorineural, involving the inner ear, cochlea, or the auditory nerve; conductive, when the outer or middle ear structures fail to optimally capture, collect, or transmit sound to the cochlea; and mixed loss, which is a combination of conductive and sensorineural hearing loss. In this chapter, we propose to briefly define each cause of hearing loss as follows: (1) outer ear causes (congenital, infection, trauma, tumor, dermatologic, and cerumen), (2) middle ear causes (congenital, eustachian tube dysfunction, infection, tumors, otosclerosis, tym‐ panic membrane perforation, middle ear barotrauma, and vascular), and (3) inner ear causes (congenital or hereditary, presbycusis, infection, Meniere disease, noise exposure, inner ear barotrauma, trauma, tumors, endocrine/systemic/metabolic, autoimmune hear‐ ing loss, Iatrogenic, ototoxic, and neurogenic).

Meningioma in the Middle Ear: An Unusual Case of Hearing Loss

A 56 year old woman presents with a history of fullness in her ears and reduced hearing, which has persisted for three weeks. She often hears clicking when she swallows....

Molecular Screening for Children With Hearing Loss: Why Do It?

To conduct a scoping review on etiologic investigation of prelingual hearing loss among children <2 years of age in the era of universal newborn hearing screening (UNHS). PubMed, Embase, PsycInfo, CINAHL, and Cochrane Library databases. We searched for articles published from January 1, 1998, to February 19, 2020. We reviewed studies that (1) included children identified with either congenital or delayed-onset hearing loss before 2 years of age among cohorts who had undergone UNHS and (2) investigated ≥1 etiologies of hearing loss. We defined hearing loss as congenital when confirmed after UNHS failure and as delayed onset when diagnosed after ≥1 assessments with normal hearing. Among 2069 unique citations, 115 studies met criteria for full-text assessment, and 20 met our inclusion criteria. Six studies tested children diagnosed with hearing loss for genetic etiology, 9 for congenital cytomegalovirus (CMV) infection, and 5 for both. Among 1787 children with congenital hearing loss and etiologic investigation, 933 (52.2%) were tested for genetic mutations and 1021 (57.1%) for congenital CMV infection. The proportion of congenital hearing loss cases attributable to genetic etiology ranged between 7.7% and 83.3% and to congenital CMV infection between 0.0% and 32.0%. Data are lacking on the identification and etiology of delayed-onset hearing loss in children <2 years of age in the UNHS era. The proportion of congenital hearing loss cases attributable to genetic etiologies and congenital CMV infection appears to vary widely.

Prevalence and etiology of sensorineural hearing loss in children with down syndrome: A cross-sectional study

BackgroundThe eustachian tube is a tubular structure connecting the middle ear cavity with the nasopharynx, providing ventilation and pressure equalization in the middle ear, mucociliary clearance, and preventing the reflux of sound and fluid from the nasopharynx. Therefore, any kind of deficiency in this tube will lead to eustachian tube dysfunction (ETD).AimThis study aims to evaluate the prevalence and associated factors of ETD in the Taif public.Materials and methodsA descriptive cross-sectional survey was conducted among the public in Taif, Saudi Arabia and it was done during the period between September 7 and September 28, 2021. A predesigned online questionnaire in the Arabic language was used to collect the data. The questionnaire contained three main parts. The first one included demographic questions, the second risk factors, and the third manifestations of ETD. The questionnaire was initiated after a literature review of similar articles and after experts' consultation for validity and reliability.ResultsA total of 693 participants completed the study questionnaire. The exact 546 (78.8%) participants were females and 671 (96.8%) were Saudi. The exact 122 (61%) participants among those who had ETD or hearing loss reported improvement in their symptoms after moving to another city below sea level. The exact 146 (21.1%) participants had ETD while 547 (78.9%) had reported normal function. ETD was detected among 69.2% of those who were previously diagnosed with ETD versus 20.1% of others (P=0.001). Participants with a family history of hearing loss showed a nearly doubled risk for having ETD (OR=1.98; 95% CI: 1.33-2.94) and smokers had nearly the same doubled likelihood(OR=1.83; 95% CI: 1.01-3.48).ConclusionIn conclusion, our study revealed a slightly high prevalence of ETD and hearing loss among the public in Taif, Saudi Arabia, and the factors associated with ETD.

Physical cues, such as extracellular matrix stiffness, direct cell differentiation and support tissue-specific function. Perturbation of these cues underlies diverse pathologies, including osteoarthritis, cardiovascular disease and cancer. However, the molecular mechanisms that establish tissue-specific material properties and link them to healthy tissue function are unknown. We show that Runx2, a key lineage-specific transcription factor, regulates the material properties of bone matrix through the same transforming growth factor-β (TGFβ)-responsive pathway that controls osteoblast differentiation. Deregulated TGFβ or Runx2 function compromises the distinctly hard cochlear bone matrix and causes hearing loss, as seen in human cleidocranial dysplasia. In Runx2+/⁻ mice, inhibition of TGFβ signalling rescues both the material properties of the defective matrix, and hearing. This study elucidates the unknown cause of hearing loss in cleidocranial dysplasia, and demonstrates that a molecular pathway controlling cell differentiation also defines material properties of extracellular matrix. Furthermore, our results suggest that the careful regulation of these properties is essential for healthy tissue function.