dignosis? - medicine_king

[ArchivalUser]

an 8 yr old child has difficulty in vision, difficulty in hearing, glucose intolrance and she is easily stressed out and easily sweating on hot temp..

diagnosis?

[ArchivalUser]

Alstrom Syndrome.

[ArchivalUser]

nope.

[ArchivalUser]

Alström syndrome is characterized by cone-rod dystrophy, obesity, progressive sensorineural hearing impairment, dilated or restrictive cardiomyopathy, the insulin resistance syndrome, and multiple organ failure. Wide clinical variability is observed among affected individuals, including sibs. Cone-rod dystrophy presents as progressive visual impairment, photophobia, and nystagmus usually starting between birth and age 15 months. Affected individuals have no light perception by age 20 years. Children usually have normal birth weight but develop truncal obesity during their first year. Progressive sensorineural hearing loss presents in the first decade in as many as 70% of individuals. Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. Insulin resistance/type 2 diabetes mellitus often presents in childhood and is typically accompanied by the skin changes of acanthosis nigricans. Other endocrine abnormalities can include hypothyroidism and hypogonadotropic hypogonadism.

DIAGNOSIS based on clinical findings. Molecular genetic testing of ALMS1, the only gene currently known to be associated with Alström syndrome, is estimated to detect mutations in 25%-40% of individuals. Such testing is available clinically.

Treatment : red-tinted prescription lenses for photodysphoria; instruction for the blind or visually impaired; healthy diet and regular exercise; myringotomy tubes and/or hearing aids as needed for hearing impairment; anti-congestive measures as needed for cardiomyopathy; treatment of insulin resistance/type 2 diabetes as in the general population; consider high-dose statins for hyperlipidemia; consultation with an endocrinologist if pubertal development and/or menses are abnormal; appropriate therapy of portal hypertension and esophageal varices; treatment of chronic obstructive pulmonary disease and associated infection per accepted guidelines.

I think this data can suits to few of other diagnosis as well that u have given.I think it can also be some sellar tumors or neuromas etc.

[ArchivalUser]

A child with deafness,wide set eyes due to broad nasal root,eyes of two different colors,premature graying of hairs,low hairline and eyebrows that touch in the middle,patches of white pigmentation on skin and presence of Hirshprung disease.

what is the Dx?

[ArchivalUser]

Excellent luv....very good ..you find out similar syndrome with very very similar charc.finding..but its not alstrom syndrome.. its Wolfram ( DIDMOAD) syndrome..The difference is that in wolfram siblings are not affected while in alstrom siblings are also suffered. and in wolfram deafness progress more in 2nd decade..

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1051091/

[ArchivalUser]

yr answer is waardunberg syndrome,.. right?

[ArchivalUser]

Exactly right.Excellent.

[ArchivalUser]

wow tough qns are we expecting in exams this stuff?

[ArchivalUser]

Yes,in the experimental section,genetics is the key for them for to present these ones most of the time.