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Extreme Microcephaly, Diffuse Agyria, Agenesis of Corpus Callosum, Cerebellar Hypoplasia with Dandy-Walker Malformation: Is This A Severe Form (Barth Syndrome) or A New Variant of Microlissencephaly
By Dr. Himanshu Aneja , Dr. Bedangshu Saikia , Dr. Aneet Patel , Dr. Anuradha Sural
Submited on: 18 Sep 2010 02:06:01 PM GMT
Published on: 18 Sep 2010 03:21:03 PM GMT
 
ectreme microcephaly, diffuse agyria, agenesis of corpus callosum, cerebellar hypoplasia with Dandy-walker malformation: Is this a severe form (? Barth syndrome) or a newvariant of microlissencephaly
Posted by Dr. Rashna Dass on 20 Nov 2010 02:29:27 AM GMT

1 Is the subject of the article within the scope of the subject category? Yes
2 Are the interpretations / conclusions sound and justified by the data? Partly
3 Is this a new and original contribution? Yes
4 Does this paper exemplify an awareness of other research on the topic? Yes
5 Are structure and length satisfactory? Yes
6 Can you suggest brief additions or amendments or an introductory statement that will increase the value of this paper for an international audience? Yes
7 Can you suggest any reductions in the paper, or deletions of parts? Yes
8 Is the quality of the diction satisfactory? Yes
9 Are the illustrations and tables necessary and acceptable? No
10 Are the references adequate and are they all necessary? No
11 Are the keywords and abstract or summary informative? Yes
  • Other Comments:

    A. ABSTARCT:

    1. In the abstarct, the word ''possible classification" should be replaced by "subtype"

    2. Case report(s)- should be singular

    3. Was screening for congenital infections done? This should be mentioned since CMV infection is associated with microcephaly with cerebral migration abnormalities

    4. Vermian hypoplasia and degree of hypoplasia (above or below the level of 4th ventricle) needs to be mentioned

    5. Cerebellar hypoplasia also needs to be shown in an illustrtaion. Description of cerebellar folia and hemispheres- whether normal foliation or dysplastic needs to be clarified.

    B. DISCUSSION:
    1. The statement- "It is a form of cephalic disorder"- is redundant and should be deleted

    2. Statement- "Children with lissencephaly die within several months of birth" (Reference no 5 from Wikipedia search)- is wrong data. Please review and revise from peer reviewed journal. Prognosis differs according to various factors- whether MDS or isolated lissencephaly. Significant proportion of patients with isolated lissencephaly live till 10 years of age.

    3. Barth syndrome- Mendelian inherience in Man Data (MIM ID # 302060) documents barth syndrome as a disorder with cardioskeletal myopathy with neutropenia with abnormal mitochondria. this syndrome does not inlcude lissencephaly or Dandy walker spectrum. reference quoted is not from peer-reviewed journal. May exclude

    C. REFERENCES:

    1. Needs to be arranged in standard format - authors surname first anme initial. journal article title. Journal name. Year;Issue:page nos.

    D. ILLUSTRATIONS:

    1. Legend of illustration 3 & 4- It is not agenesis of vermis- it is hypoplasia of cerebellar vermis above the level of 4th ventricle.

    2. Illustration 5- It is a repetition of illustartions 1 & 2 which also show figure of 8 appearence. It is suggested that this image be removed and in place add an axial image at the cerebellar level

    NOTE: Review process was assisted by valuable and critical comments on the images and text matter by Dr Anindita Sinha, Assistant Professor in charge of MRI, Dept. of Radiodiagnosis, NEIGRIHMS, Shillong-18 email: dranindita@gmail.com

  • Competing interests:
    none
  • Invited by the author to review this article? :
    Yes
  • Have you previously published on this or a similar topic?:
    No
  • References:
    None
  • Experience and credentials in the specific area of science:

    general pediatrics, Pediatric intensive care, Infectious disease, rheumatology

     

    Dr Anindita Sinha's expertise- Magnetic resonance imaging, MR spectroscopy, Interventional radiology

  • How to cite:  Dass R .ectreme microcephaly, diffuse agyria, agenesis of corpus callosum, cerebellar hypoplasia with Dandy-walker malformation: Is this a severe form (? Barth syndrome) or a newvariant of microlissencephaly[Review of the article 'Extreme Microcephaly, Diffuse Agyria, Agenesis of Corpus Callosum, Cerebellar Hypoplasia with Dandy-Walker Malformation: Is This A Severe Form (Barth Syndrome) or A New Variant of Microlissencephaly ' by Sural A].WebmedCentral 2010;1(11):WMCRW00153
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