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Collective Conversational Review around the Case Report of Dandy Walker Malformation

What follows below is an original version of the WhatsApp conversational review that began with an invitation statement from the teacher and each participant critically appraised and reviewed the case report. As the discussion progressed, dialogue between the moderator and students centred around study, and a review report was summarized (the moderator is indicated by the title “teacher” and/or initials (R.B.) and student reviewers are indicated by their initials).

AKG: Please introduce each other. we will share a manuscript for reviewing here soon. One important guideline to follow is, you must not share the paper to be reviewed anywhere. Please follow this as its important. The manuscript is shared above. After review completes, we will blog whole conversational review. If you don't know how to do it, read paper, give your comments, ask questions, freely use google youtube and anything and also share if any useful relevant links.

RB: Here's a guideline https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-016-0853-3 Again it's not absolutely necessary to follow it but may help you to start. 

S: Hi, how was the diagnosis of associated Dandy Walker malformation, made and were symptoms of associated ciliopathies looked for? Please elaborate. The article and presentation are pretty solid, despite low reproducibility of results based on extremely small sample size.

RB: Reproducibility of what results?

VP: Small sample size?

S: Just 5 cases on record. Already management of downs advocates early behavioral, speech, occupational therapy. Emphasis be made on early detection to prevent further disability.

RB: Early detection of this association?

S: Yes. That seems to be the only productive strategy.

RBl How would early detection be productive if you can elaborate. My hunch is it would be productive if you have a definitive solution for something that is detected early?

S: I was thinking of early shunting to prevent pressure effects of an enlarged ventricle system. A precaution in diagnosed cases to limit morbidity. There are cases where CSF abnormalities developed over time. The disease may also have an indolent course. Gestational detection with USG is a possibility. Why not steps be taken at the earliest levels with early shunting in infancy. Amniocentetic info to further corroborate evidence and also test for Downs. 

Regarding shunting. Hence emphasis on early detection of the problem



RB: Yes and my question was what is the evidence that it helps in dandy walker. Can you search and share? The most important part that has been left out here is the outcomes of the patient on whom the decompression intervention was done in various stages. What happened to those who received those interventions in comparison to those who didnt? That is the question we need to answer.

VP: That is till now 5 cases have been reported till now. This case report describes about only one patient. 

S: Han I know, I was just observing a fact.

RB: You mean globally only five cases have been reported? Can you share the link to this fact? Is this for Dandy walker in general or any particular association with dandy walker?

S: DS with Dandy Walker. It's as per the case study. Read 1st para of abstract. 

RB: Great. Thanks for pointing it out. 👍

RB: Thanks to your inputs I managed to read this case report now, months after our editorial team  received it for review. 

One of the holes in this report lies in the last paragraph here in this statement and I quote, "Hence, occupational therapy should be begun in early years of life."

Should be is fine but what was actually done for this case? This is something I would be looking forward to finding out from the authors

U1: When treatment is necessary, the posterior fossa cyst needs to be shunted to allow proper flow of cerebrospinal fluid. If there is no communication between the posterior fossa cyst and the lateral ventricles, then the lateral ventricles need to be shunted also. According to UCLA.

RB: Here's a suggested intervention based on pathophysiologic rationale but that rationale would be proven as per current science once we can unbiasedly demonstrate that there is a positively significant correlation between the intervention and better patient outcomes once we define our expected outcomes meticulously

RB: How do we know if when a surgical decompression treatment may help this particular patient? Good point. The authors don't appear to have made this point?

U1: There is ventricular dilation, hypotonia...so shunt could be used.

RB: What is the evidence that a shunt can reverse hypotonia symptoms in Dandy walker?

U1: If the underlying cause is known, treatment is tailored to the specific disease, followed by symptomatic and supportive therapy for the hypotonia. In very severe cases, treatment may be primarily supportive, such as mechanical assistance with basic life functions like breathing and feeding, physical therapy to prevent muscle atrophy and maintain joint mobility, and measures to try to prevent opportunistic infections as pneumonia. Treatments to improve neurological status might involve such things as medication for a seizure disorder, medicines or supplements to stabilize a metabolic disorder, or surgery to help relieve the pressure from hydrocephalus (increased fluid in the brain).

shunt may be required to drain off excess fluid within the brain, which will reduce pressure inside the skull and improve symptoms. If symptoms are improved we can say that decompression treatment is useful and look further. What does this occupational therapy mean particularly? 

U1: Hypotonia cannot be treated by shunting. Prenatal counseling is also an option. Standard 

Hydrocephalus associated with Dandy Walker syndrome is treated with surgery to insert a tube to redirect the fluid that surrounds the brain and to assist fluid drainage into other parts of the body that can absorb the fluid. A supportive team approach for children with Dandy-Waller malformation is often warranted and may include special education, physical therapy and other medical, social or vocational services. Genetic counseling is recommended for families that have a child with Dandy Walker malformation. https://ghr.nlm.nih.gov/condition/dandy-walker-malformation#diagnosis

RB: Is this a quote or your own thoughts? 🤔 

U1: Quote copied!

RB: Link?

U1: I went through the references but couldn't find the logic. https://en.m.wikipedia.org/wiki/Hypotonia#Prognosis_and_treatment

RB: Yes because you were looking at the hypotonia end of the problem which is a sweeping generalization as there are so many causes of hypotonia. If you look at the Dandy walker end by keying in "dandy walker hypotonia interventions" you may get more relevant information?

RB: So the evidence here appears to be based on logic or pathophysiologic rationale? Well can we search and find out how many patients of dandy walker hypotonia benefitted from this decompression and were there other symptoms that may have similarly benefited?

S: The benefit from the procedure is not merely a logical hypothesis. It's also a rational approach by limiting the disability and deformity imposed by genetic defects.The point here is reviewing the case study not, the competency of the management. We're just analysing the reproduction and summation of a medical condition. And the intent and objective of the author, in bringing this particular case to medical limelight.

RB: The case report is a reflection of whatever was done for the patient and the question may not be so much about competency than trying to understand the current knowledge base (science) around what we do. That is our reward for reviewing. We get a commission in learning currency as each report allows us to explore and develop the field through our Socratic questions

RB: The authors as well as the audience's objective would also be to seek current best solutions for the patient.  That was the original intent of case reporting before it was distorted by people who made their name through case reports (think Graves, Parkinson etc)

U1: I agree.

RB: It is the original intent of any case presentation even by the bedside before it was hijacked by a summative exam based curriculum where it was distorted into an exercise where students were encouraged to learn facts rather than use Socratic questioning techniques to arrive at solutions toward meeting patient requirements


RB: Can you quote the relevant outcomes from your understanding after reading the paper you shared?


RB: Again this is a case series with descriptions about patients where intervention was given, without a comparator (where the intervention was not given). Minus valid comparators it would be difficult to judge the outcomes/improvement with the intervention


SC: Thanks Avinash. I have these inputs to add:

1. The authors need to document which milestones were specifically delayed to give clear idea how they concluded the delay of the development in each sphere: gross motor, fine motor, language, social skills

2. They should provide specific information about bone skiagrams showing ossification sites to provide proof of what they have mentioned about bone age 

3. They have not mentioned that consent is obtained from parents to publish or not 

To sum it up they should have a table mentioning all the test results normal or abnormal pertinent  to the case and relevant images, which is not mentioned

SC: Though it is a rare case and few case reports, I think literature review can also be better, comparing the cases in a table and mentioning how this case is similar or different from the earlier ones

RB: Yes very good input.  can we prepare a list of the reviewer recommendations incorporating the above with the extractable themes from the previous conversations here?

SC: Thanks RB. Also if possible the authors may provide some social demographics of the patient.



Dandy Walker reviewer inputs: 

Reviewer 1:

My queries are:

a) Why did we decide to manage him conservatively and not offer surgery for the dandy walker cyst? 

b) what were the results of his occupational therapy?

Reviewer 2:

1. The authors need to document which milestones were specifically delayed to give clear idea how they concluded the delay of the development in each sphere: gross motor, fine motor, language, social skills

2. They should provide specific information about bone skiagrams showing ossification sites to provide proof of what they have mentioned about bone age 

3. They have not mentioned that consent is obtained from parents to publish or not 

To sum it up they should have a table mentioning all the test results normal or abnormal pertinent  to the case and relevant images, which is not mentioned

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