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Submited on: 26 Oct 2010 05:15:11 AM GMT
Published on: 26 Oct 2010 11:25:49 AM GMT
- Other Comments: This is a very interesting case report about this rare form of congenital cerebellar malformation with gait ataxia, mental retardation and quadrupedal locomotion. I have some comments and suggestions to the authors. 1-Title: I suggest to the authors use a title more objective, such us: Uner Tan syndrome ? Case report with late childhood quadrupedalism. 2-Abstract: Background: I suggest describe the UTS as a syndrome with cerebellar ataxia (truncal and gait ataxia, and dysarthria), mental retardatiom, and quadrupedalism. 3-Introduction: There are some words misspelled, such as cerebrello-vermial hypoplasia, then cerebello-vermial and ponto-medullar hypoplasia. 4-Methods: The authors stated that? One the authors (MT), who is professor of neurology, performed the traditional neurological examinations (muscle tonus, etc, Babinsky sign (?) and so on). My suggestion is: The neurological examination was performed by one the authors (MT). 5-Results: The authors wrote that daughter D1 (27 years old) was completely dystonic,? My suggestion is: Patient D1 had a generalized dystonia. 6-Discussion: I understand that UTS represents a rare form of congenital cerebellar malformation (vermis and pontocerebellar hypoplasia) with cerebellar ataxia, associated to mental retardation and quadrupedalism. The authors discussed a differential diagnosis with DES (Dysequilibrium syndrome, instead disequilibrium syndrome), Hutteries, and Cayman ataxia, but, in fact, there are an expressive number of congenital cerebellar malformations, with autosomal recessive cerebellar ataxia, and then the discussion could be oriented to this topic. The authors stated that a single gene or genes cannot be the primary source of normal or pathological behavior, but I think that molecular genetic studies probably will clarify this syndrome in the future. 7-Conclusion: I think that the word incubation is not a correct word to use in this condition. The authors concluded that: Concerning genetics, the minor role of gene(s) in the origin of diseases including UTS was accentuated. I strongly disagree with the authors, because there is no extensive genetic investigation to support this conclusion. 8-Illustrations: Illustration 2 is not understandable. Illustration 3: Examination: Babinski sign (instead Babinsky!), pes pedus (?).
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Competing interests:
Nothing to declare
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Invited by the author to review this article? :
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Have you previously published on this or a similar topic?:
No
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References:
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Experience and credentials in the specific area of science:
Yes. I have an expertise in movement disorders, particularly, hereditary ataxias. - How to cite: Teive H A.Uner Tan syndrome ? Case report with late childhood quadrupedalism.[Review of the article 'First Quadruped Man Was Found In Turkey A Hundred Years Ago ' by Koroglu B].WebmedCentral 2010;1(10):WMCRW0089
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Eadweard Muybridge (1830-1904) (his real name was Edward James Muggeridge) builds a chapter in the history of medical photography along with Etienne-Jules Marey (1830-1904). His masterwork entitled “Animal Locomotion” was published by the University of Pennsylvania in 1887. The 29 plates with patients can be found in the eighth volume, titled Abnormal Movements, Males and Females (Nude & Semi-Nude). The great majority show neurological patients with gait disorders, including locomotor ataxia, infantile paralysis, spasticity, lateral sclerosis, paraplegia, muscular atrophy, and hydrocephalus. It is surprising to discover the same quadripedalism case as one discribed by Prof Uner Tran. Seee the photo enclosed
Infantile paralysis; child walking on hands and feet, plate 539 from 'Animal Locomotion', 1887
Eadweard Muybridge
American, 1830 - 1904
Collotype
Sheet size 34.5 x 49.5cm
sorry, but I find no link to add the picture that I have found.
can you help me ?
The discussion can be enriched with this report. I find the commentary between the two photos few humorous and without place in a medical report.
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only, knowledges of the history of neurosciences