Pediatric Pathologies
Alport Syndrome
Branchio-Oto- Renal Syndrome
CHARGE Syndrome
Down Syndrome
Goldenhar Syndrome
Mitochondrial Disorder
Mohr-Tranabjaerg Syndrome
Neurofibromatosis Type 2
Norrie Disease
Osteogenesis Imperfecta
Connexin 26
Pendred Syndrome
Treacher Collins Syndrome
Usher Syndrome
Stickler Syndrome
Waardenburg Syndrome
ANSD
Cholesteatoma
CMV - Cytolomegalovirus
EVA
- Kidney disease, hearing loss, eye abnormalities
- Blood in the urine is most common symptom
- Males affected more severely than females
- Sensorineural loss developed in late childhood
- Progressive bilateral sensorineural hearing loss
Branchio-Oto- Renal Syndrome
- Autosomal dominant disorders that affects the formation of patient’s ears and kidneys, and disrupts formation of neck tissue
- Hearing loss can be congenital or late onset
- HL can be progressive or non progressive
- SNHL 20%, Conductive 30% Mixed 50%
- Mild to profound
- Preauricular pits and skin tags
- Auricular malformations of outer ear, microtia
CHARGE Syndrome
- Leading cause of congenital deaf-blindness in US
- C-Coloboma, Cranial Nerve Defects
- H-Heart defects
- A-Atresia of the Choanae and occasional Cleft palate
- R-Retardation of growth and development
- G-Genital underdevelopment
- E-Ear abnormalities and SNHL
- Clipped off or looped along helix, triangular cochlea, small or absent lobules, stenosis, ossicular malformations, mondini dysplasia, loss of vestib function.
Down Syndrome
- Craniofacial abnormalities, cognitive impairments, heart defects..
- Stenotic ear canals, microtia, otitis media is very common
- Possible underdeveloped inner ear
- Possible enlarged vestibular aqueduct and endolymphatic sac
- Cerumen impaction
- Fluctuating conductive hearing loss from recurrent OM
- 10% SNHL or Mixed
- ABR Shortened I-II interpeak latencies thus shortened I-V.
Goldenhar Syndrome
- Congenital birth defect that affects face, head, and spine. Underdeveloped muscles and bones on one side of face, dermoid cysts around the eyes, vertebrae fusion.
- Males more susceptible
- Microtia is common, Atresia, ear infections, cholesteatomas, stenosis, malformation of ossicles
- Mild to moderate conductive losses most commonly seen
- Jervell and Lange-Nielsen Syndrome
- Profound hearing loss from birth and arrhythmia
- Vestibular dysfunction and disruption of endolymph homeostasis
Mitochondrial Disorder
- Symptoms include seizures, strokes, developmental delays, low muscle tone, inability to walk and talk
- Progressive and no cure
- Hearing loss results from lack of mitochondrial energy production
- Can be congenital or later onset
- Bilateral SNHL
Mohr-Tranabjaerg Syndrome
- More common in males
- Dystonia, Ataxia, Photophobia, loss of visual acuity, behavioral problems, dementia
- Progressive SNHL beginning in childhood, deafness by age 10.
Neurofibromatosis Type 2
- Cataracts, skin tumors
- Hearing loss, tinnitus, balance problems
- SNHL, uni or bilateral, WRS rollover, Positive decay, abnormal ABR waves
Norrie Disease
- Affects males more often
- Primarily affects the eyes, blindness at birth or shortly after
- Progressive shrinking of eyes, cataracts
- Vascular abnormalities of the cochlea
- Mild hearing loss in early childhood, but progresses SNHL
- Speech discrimination usually well preserved
Osteogenesis Imperfecta
- Brittle bone disease
- Triangular shaped face with broad forehead, short small body, bowing of back
- Progressive HL, ranges in severity based on type.
Connexin 26
- LEADING CAUSE OF CONGENITAL SNHL
- Responsible for 12-24% of childhood SNHL
- Mild to profound SNHL, progressive
Pendred Syndrome
- Inability to make protein pendred, which is important to inner ear and thyroid
- Shortened cochlea with 1.5 turns CT or MRI
- EVA or other vestibular dysfunction CT or MRI
- Severe to profound SNHL, usually bilateral
- Balance issues
Treacher Collins Syndrome
- Hypoplasia of the mandible, dental malocclusion, sunken cheeks
- External ear can be small, deformed, rotated, or absent, atresia.
- Ossicles absence, ossicular fusion ( Malleus and Incus), partial absence of stapes and oval window
- Bilateral conductive hearing loss of about 50 to 70 dB
- Mixed or SNHL is rare
Usher Syndrome
- Affects hearing and vision
- Hearing loss first-damaged hair cells
- Balance problems
- Type 1 profound deaf bilaterally
- Type 2 moderate to severe HF SNHL
- Type 3 progressive hearing loss
Stickler Syndrome
- Affects craniofacial, eyes, inner ear, skeleton, and joints
- Flattened face, far back tongue, small lower jaw, cataracts, flexible joints, early onset arthritis
- Typically mild to moderate HL, can be any of the three types. HF mostly affected.
- Does not progress
Waardenburg Syndrome
- White forelock, pale eyes, different colored eyes, wide set eyes
- Hearing loss ranges mild to profound, unilateral or bilateral
- Vestibular problems including vertigo, dizziness, and balance problems have been reported
ANSD
- Fluctuating hearing loss with poor WRS scores
- Absent reflexes, Robust OAES
- Cochlear microphonic, but absent ABR
- hyperbilirubinemia
- mutations of otoferlin or pejvakin genes
- charcot marie tooth disease
- mohr tranebjaerg syndrome
- mitochondrial diseases
Cholesteatoma
- Multiple ear infections
- Unilateral conductive hearing loss
- Good WRS
- Absent reflexes
- Type As tymp possible
CMV - Cytolomegalovirus
- premature and LBW are red flags
- Mom was sick in first trimester is another red flag
- SNHL
EVA
- Need CT or MRI to confirm
- Can be uni or bilateral
- SNHL
- Consider temporal bone fracture