Pediatric Pathologies

Alport Syndrome
  • 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