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Suggest Treatment For White Patch On Buccal Mucosa And Slanting Palpebral Fissures In Eyes
Question: While interviewing and examining a 17-year-old male, I discovered a white patch on his buccal mucosa and slanting palpebral fissures in his eyes. He also states during the interview that he plays baseball and is hoping to earn an athletic scholarship to college.
What do you suspect this is? What kind of teaching is appropriate in this situation?
When would slanting palpebral fissures be normal?
When performing a retinal examination on this patient, I discover that the margins of the optic disc become blurred and indistinct. What further testing would be required? Why? What is the foremost cause of this clinical finding?
What do you suspect this is? What kind of teaching is appropriate in this situation?
When would slanting palpebral fissures be normal?
When performing a retinal examination on this patient, I discover that the margins of the optic disc become blurred and indistinct. What further testing would be required? Why? What is the foremost cause of this clinical finding?
Brief Answer:
Possible Down Syndrome.Need Karyotype study for confirmation.
Detailed Answer:
Hi Sir/Mam,
I understand your concern.
This male probably seems to have chromosomal disorder most likely to be Down's Syndrome.
The foremost cause of this abnormality is extra 21st chromosome .
Hence a karyotype analysis is needed to confirm this.
The slanting of palpebral fissures is permanent deficit.
The white patch should probably represent a fungal infection Oral thrush/Candidiasis.
Examination of Retina is most important since these individuals are more prone to have Glaucoma and Retinal detachment.
Laboratory studies (baseline)that may be helpful include the following:
Complete blood count with differential.
Bone marrow examination to rule out leukemia.
Thyroid-stimulating hormone (TSH) and thyroxine (T4) to rule out hypothyroidism.
Cytogenetic studies (karyotyping) for diagnosis of trisomy 21.
Interphase fluorescence in situ hybridization (FISH) for rapid diagnosis of trisomy 21.
Intellectual Quotient testing.
Post your further queries if any.
Thank you.
Possible Down Syndrome.Need Karyotype study for confirmation.
Detailed Answer:
Hi Sir/Mam,
I understand your concern.
This male probably seems to have chromosomal disorder most likely to be Down's Syndrome.
The foremost cause of this abnormality is extra 21st chromosome .
Hence a karyotype analysis is needed to confirm this.
The slanting of palpebral fissures is permanent deficit.
The white patch should probably represent a fungal infection Oral thrush/Candidiasis.
Examination of Retina is most important since these individuals are more prone to have Glaucoma and Retinal detachment.
Laboratory studies (baseline)that may be helpful include the following:
Complete blood count with differential.
Bone marrow examination to rule out leukemia.
Thyroid-stimulating hormone (TSH) and thyroxine (T4) to rule out hypothyroidism.
Cytogenetic studies (karyotyping) for diagnosis of trisomy 21.
Interphase fluorescence in situ hybridization (FISH) for rapid diagnosis of trisomy 21.
Intellectual Quotient testing.
Post your further queries if any.
Thank you.
Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
What appropriate teaching would be done with the child and parent if chromosomal studies were positive? Would the child be able to play baseball in college? Due to the progressing visual problems would he be informed he couldnt play ball? Do the parents need genetic counceling. Can these children go on to lead a normal life?
Could he possibly have Mosiac Syndrome? Do children with downs syndrome have a tendency to get thrush? Thank you.
Could he possibly have Mosiac Syndrome? Do children with downs syndrome have a tendency to get thrush? Thank you.
Brief Answer:
Physical athletic activities may diminish with time.
Detailed Answer:
Hi Sir/Mam.
I understand your concern.
If chromosomal studies are positive ,one needs to explain all the sequelae related to Down syndrome to both child and parents.Detailed info is available on the following link:
http://www.unmc.edu/media/mmi/09Symposium/ConoverSymposium09.pdf
Ability to play baseball in the college will grossly diminish if Neuromuscular hypotony sets in.This should be explained to the subject himself.
Yes even visual problems later in life particularly early onset Glaucoma and Retinopathy will also prevent him from playing baseball.
These children can go on with normal life only to a certain extent.
The overall outlook for individuals with Down syndrome has dramatically improved. Many adult patients are healthier, are better integrated into society, and have increased longevity than before. However, their life expectancy is still reduced.
The median age for survival is 49 years. However, some patients reach their sixth decade
Special considerations should be given in adolescents to improve the quality of life are as follows:
1.Ongoing monitoring measures, including annual audiologic evaluation and annual ophthalmologic evaluation
2.Ongoing management of manifestations of the syndrome and associated conditions
3.Discussion of issues related to the transition to adulthood.
4.Timely surgical intervention.
Yes absolutely parents need Genetic counselling.
Children with Down syndrome have poor oral and dental hygiene due to associated oromandibular and airway anomalies,hence they are more prone infections particularly oral thrush.
Mosaicism can be the cause only in 2.5% population.
Mosaicism is considered a postzygotic event (ie, one that occurs after fertilization). Most cases result from a trisomic zygote with mitotic loss of one chromosome. As a result, 2 cell lines are found: one with a free trisomy, and the other with a normal karyotype. This finding leads to great phenotypic variability, ranging from near normal to the classic trisomy 21 phenotype.
Screening for mosaicism with FISH(fluorescent in situ hybridization technique) is indicated in selected patients with mild developmental delay and those with early-onset Alzheimer disease.
Post your further queries if any.
Thank you.
Physical athletic activities may diminish with time.
Detailed Answer:
Hi Sir/Mam.
I understand your concern.
If chromosomal studies are positive ,one needs to explain all the sequelae related to Down syndrome to both child and parents.Detailed info is available on the following link:
http://www.unmc.edu/media/mmi/09Symposium/ConoverSymposium09.pdf
Ability to play baseball in the college will grossly diminish if Neuromuscular hypotony sets in.This should be explained to the subject himself.
Yes even visual problems later in life particularly early onset Glaucoma and Retinopathy will also prevent him from playing baseball.
These children can go on with normal life only to a certain extent.
The overall outlook for individuals with Down syndrome has dramatically improved. Many adult patients are healthier, are better integrated into society, and have increased longevity than before. However, their life expectancy is still reduced.
The median age for survival is 49 years. However, some patients reach their sixth decade
Special considerations should be given in adolescents to improve the quality of life are as follows:
1.Ongoing monitoring measures, including annual audiologic evaluation and annual ophthalmologic evaluation
2.Ongoing management of manifestations of the syndrome and associated conditions
3.Discussion of issues related to the transition to adulthood.
4.Timely surgical intervention.
Yes absolutely parents need Genetic counselling.
Children with Down syndrome have poor oral and dental hygiene due to associated oromandibular and airway anomalies,hence they are more prone infections particularly oral thrush.
Mosaicism can be the cause only in 2.5% population.
Mosaicism is considered a postzygotic event (ie, one that occurs after fertilization). Most cases result from a trisomic zygote with mitotic loss of one chromosome. As a result, 2 cell lines are found: one with a free trisomy, and the other with a normal karyotype. This finding leads to great phenotypic variability, ranging from near normal to the classic trisomy 21 phenotype.
Screening for mosaicism with FISH(fluorescent in situ hybridization technique) is indicated in selected patients with mild developmental delay and those with early-onset Alzheimer disease.
Post your further queries if any.
Thank you.
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Above answer was peer-reviewed by :
Dr. Chakravarthy Mazumdar
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