12/10/2013

12/10/2013

Answers:

A 10 year old boy is found to have severe bilateral hearing loss and a large goiter. What is the most likely diagnosis?
A) MENIIB 
B) Neurofibromatosis Type I 
C) Neurofibromatosis Type II 
D) Pendred Syndrome 
E) Waardenburg Syndrome 
D) Treacher Collins Syndrome

Pendred syndrome is the most common syndromic form of deafness (10%). It includes SNHL + goiter, often before puberty. Hearing loss is congenital, bilateral, mod-profound and sloping in higher frequencies. Pts often have enlarged vestibular aqueduct and mondini-type malformations.

What factors help categorize the four categories of Waardenburg Syndrome?

Dystopia canthorum, upper limb abnormalities and Hirschsprung disease.  

Waardenburg syndrome patients also have pigmentary abnormalities and SNHL. The four subtypes are:
-Type I = + dystopia canthorum, PAX3
-Type II = no dystopia canthorum, MITF, SNA12
-Type III = + dystopia canthorum, + upper limb abnormalities, PAX3
-Type IV = - dystopia canthorum, + Hirschsprung disease, EDNRB, EDN3,
SOX10

MC Questions:
What type of hearing loss is most common in Branchio-Oto-Renal Syndrome?
A) SNHL 
B) CHL 
C) Mixed Hearing Loss 
D) Microtia without hearing loss

Free Response Question:
A patient is found to have bilateral acoustic neuromas. What underlying diagnosis is most likely?

Quick Facts:
Jervell-Lange-Nielsen = SNHL w/ syncopal attacks due to prolong QTC.  
-Death occurs if not treated.

Treacher Collins =Distinct craniofacial abnormalities.  
-Hearing loss due to malformed cochlear/vestibular apparatus.

Stickler Syndrome = eye symptoms include myopia, astigmatisms and cataracts, arthropathy, cleft palate and SNHL.