Journal of Clinical and Diagnostic Research, ISSN - 0973 - 709X

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Dr Archana Dambal

"Journal of clinical and diagnostic research is a welcome change in publishing practices. It aims to reach out to the grass-root level researchers who do not lack in experience, clinical material and ideas, but lack in their knowledge in English language and statistics. The journal achieves it's aim by supporting in these exact domains.
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Dr. Archana Dambal
Department of General Medicine,
Belgaum Institute of Medical Sciences,Belgaum, Karnataka,INDIA,
On 30 Nov 2018




Dr Bhanu K Bhakhri

"The Journal of Clinical and Diagnostic Research (JCDR) has been in operation since almost a decade. It has contributed a huge number of peer reviewed articles, across a spectrum of medical disciplines, to the medical literature.
Its wide based indexing and open access publications attracts many authors as well as readers
For authors, the manuscripts can be uploaded online through an easily navigable portal, on other hand, reviewers appreciate the systematic handling of all manuscripts. The way JCDR has emerged as an effective medium for publishing wide array of observations in Indian context, I wish the editorial team success in their endeavour"



Dr Bhanu K Bhakhri
Faculty, Pediatric Medicine
Super Speciality Paediatric Hospital and Post Graduate Teaching Institute, Noida
On Sep 2018




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I wish all success to your journal and look forward to sending you any suitable similar article in future"



Dr Mohan Z Mani,
Professor & Head,
Department of Dematolgy,
Believers Church Medical College,
Thiruvalla, Kerala
On Sep 2018




Prof. Somashekhar Nimbalkar

"Over the last few years, we have published our research regularly in Journal of Clinical and Diagnostic Research. Having published in more than 20 high impact journals over the last five years including several high impact ones and reviewing articles for even more journals across my fields of interest, we value our published work in JCDR for their high standards in publishing scientific articles. The ease of submission, the rapid reviews in under a month, the high quality of their reviewers and keen attention to the final process of proofs and publication, ensure that there are no mistakes in the final article. We have been asked clarifications on several occasions and have been happy to provide them and it exemplifies the commitment to quality of the team at JCDR."



Prof. Somashekhar Nimbalkar
Head, Department of Pediatrics, Pramukhswami Medical College, Karamsad
Chairman, Research Group, Charutar Arogya Mandal, Karamsad
National Joint Coordinator - Advanced IAP NNF NRP Program
Ex-Member, Governing Body, National Neonatology Forum, New Delhi
Ex-President - National Neonatology Forum Gujarat State Chapter
Department of Pediatrics, Pramukhswami Medical College, Karamsad, Anand, Gujarat.
On Sep 2018




Dr. Kalyani R

"Journal of Clinical and Diagnostic Research is at present a well-known Indian originated scientific journal which started with a humble beginning. I have been associated with this journal since many years. I appreciate the Editor, Dr. Hemant Jain, for his constant effort in bringing up this journal to the present status right from the scratch. The journal is multidisciplinary. It encourages in publishing the scientific articles from postgraduates and also the beginners who start their career. At the same time the journal also caters for the high quality articles from specialty and super-specialty researchers. Hence it provides a platform for the scientist and researchers to publish. The other aspect of it is, the readers get the information regarding the most recent developments in science which can be used for teaching, research, treating patients and to some extent take preventive measures against certain diseases. The journal is contributing immensely to the society at national and international level."



Dr Kalyani R
Professor and Head
Department of Pathology
Sri Devaraj Urs Medical College
Sri Devaraj Urs Academy of Higher Education and Research , Kolar, Karnataka
On Sep 2018




Dr. Saumya Navit

"As a peer-reviewed journal, the Journal of Clinical and Diagnostic Research provides an opportunity to researchers, scientists and budding professionals to explore the developments in the field of medicine and dentistry and their varied specialities, thus extending our view on biological diversities of living species in relation to medicine.
‘Knowledge is treasure of a wise man.’ The free access of this journal provides an immense scope of learning for the both the old and the young in field of medicine and dentistry as well. The multidisciplinary nature of the journal makes it a better platform to absorb all that is being researched and developed. The publication process is systematic and professional. Online submission, publication and peer reviewing makes it a user-friendly journal.
As an experienced dentist and an academician, I proudly recommend this journal to the dental fraternity as a good quality open access platform for rapid communication of their cutting-edge research progress and discovery.
I wish JCDR a great success and I hope that journal will soar higher with the passing time."



Dr Saumya Navit
Professor and Head
Department of Pediatric Dentistry
Saraswati Dental College
Lucknow
On Sep 2018




Dr. Arunava Biswas

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It's a honour and pride to be a part of the JCDR team. My very best wishes to JCDR and hope it will sparkle up above the sky as a high indexed journal in near future."



Dr. Arunava Biswas
MD, DM (Clinical Pharmacology)
Assistant Professor
Department of Pharmacology
Calcutta National Medical College & Hospital , Kolkata




Dr. C.S. Ramesh Babu
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Best regards,
C.S. Ramesh Babu,
Associate Professor of Anatomy,
Muzaffarnagar Medical College,
Muzaffarnagar.
On Aug 2018




Dr. Arundhathi. S
"Journal of Clinical and Diagnostic Research (JCDR) is a reputed peer reviewed journal and is constantly involved in publishing high quality research articles related to medicine. Its been a great pleasure to be associated with this esteemed journal as a reviewer and as an author for a couple of years. The editorial board consists of many dedicated and reputed experts as its members and they are doing an appreciable work in guiding budding researchers. JCDR is doing a commendable job in scientific research by promoting excellent quality research & review articles and case reports & series. The reviewers provide appropriate suggestions that improve the quality of articles. I strongly recommend my fraternity to encourage JCDR by contributing their valuable research work in this widely accepted, user friendly journal. I hope my collaboration with JCDR will continue for a long time".



Dr. Arundhathi. S
MBBS, MD (Pathology),
Sanjay Gandhi institute of trauma and orthopedics,
Bengaluru.
On Aug 2018




Dr. Mamta Gupta,
"It gives me great pleasure to be associated with JCDR, since last 2-3 years. Since then I have authored, co-authored and reviewed about 25 articles in JCDR. I thank JCDR for giving me an opportunity to improve my own skills as an author and a reviewer.
It 's a multispecialty journal, publishing high quality articles. It gives a platform to the authors to publish their research work which can be available for everyone across the globe to read. The best thing about JCDR is that the full articles of all medical specialties are available as pdf/html for reading free of cost or without institutional subscription, which is not there for other journals. For those who have problem in writing manuscript or do statistical work, JCDR comes for their rescue.
The journal has a monthly publication and the articles are published quite fast. In time compared to other journals. The on-line first publication is also a great advantage and facility to review one's own articles before going to print. The response to any query and permission if required, is quite fast; this is quite commendable. I have a very good experience about seeking quick permission for quoting a photograph (Fig.) from a JCDR article for my chapter authored in an E book. I never thought it would be so easy. No hassles.
Reviewing articles is no less a pain staking process and requires in depth perception, knowledge about the topic for review. It requires time and concentration, yet I enjoy doing it. The JCDR website especially for the reviewers is quite user friendly. My suggestions for improving the journal is, more strict review process, so that only high quality articles are published. I find a a good number of articles in Obst. Gynae, hence, a new journal for this specialty titled JCDR-OG can be started. May be a bimonthly or quarterly publication to begin with. Only selected articles should find a place in it.
An yearly reward for the best article authored can also incentivize the authors. Though the process of finding the best article will be not be very easy. I do not know how reviewing process can be improved. If an article is being reviewed by two reviewers, then opinion of one can be communicated to the other or the final opinion of the editor can be communicated to the reviewer if requested for. This will help one’s reviewing skills.
My best wishes to Dr. Hemant Jain and all the editorial staff of JCDR for their untiring efforts to bring out this journal. I strongly recommend medical fraternity to publish their valuable research work in this esteemed journal, JCDR".



Dr. Mamta Gupta
Consultant
(Ex HOD Obs &Gynae, Hindu Rao Hospital and associated NDMC Medical College, Delhi)
Aug 2018




Dr. Rajendra Kumar Ghritlaharey

"I wish to thank Dr. Hemant Jain, Editor-in-Chief Journal of Clinical and Diagnostic Research (JCDR), for asking me to write up few words.
Writing is the representation of language in a textual medium i e; into the words and sentences on paper. Quality medical manuscript writing in particular, demands not only a high-quality research, but also requires accurate and concise communication of findings and conclusions, with adherence to particular journal guidelines. In medical field whether working in teaching, private, or in corporate institution, everyone wants to excel in his / her own field and get recognised by making manuscripts publication.


Authors are the souls of any journal, and deserve much respect. To publish a journal manuscripts are needed from authors. Authors have a great responsibility for producing facts of their work in terms of number and results truthfully and an individual honesty is expected from authors in this regards. Both ways its true "No authors-No manuscripts-No journals" and "No journals–No manuscripts–No authors". Reviewing a manuscript is also a very responsible and important task of any peer-reviewed journal and to be taken seriously. It needs knowledge on the subject, sincerity, honesty and determination. Although the process of reviewing a manuscript is a time consuming task butit is expected to give one's best remarks within the time frame of the journal.
Salient features of the JCDR: It is a biomedical, multidisciplinary (including all medical and dental specialities), e-journal, with wide scope and extensive author support. At the same time, a free text of manuscript is available in HTML and PDF format. There is fast growing authorship and readership with JCDR as this can be judged by the number of articles published in it i e; in Feb 2007 of its first issue, it contained 5 articles only, and now in its recent volume published in April 2011, it contained 67 manuscripts. This e-journal is fulfilling the commitments and objectives sincerely, (as stated by Editor-in-chief in his preface to first edition) i e; to encourage physicians through the internet, especially from the developing countries who witness a spectrum of disease and acquire a wealth of knowledge to publish their experiences to benefit the medical community in patients care. I also feel that many of us have work of substance, newer ideas, adequate clinical materials but poor in medical writing and hesitation to submit the work and need help. JCDR provides authors help in this regards.
Timely publication of journal: Publication of manuscripts and bringing out the issue in time is one of the positive aspects of JCDR and is possible with strong support team in terms of peer reviewers, proof reading, language check, computer operators, etc. This is one of the great reasons for authors to submit their work with JCDR. Another best part of JCDR is "Online first Publications" facilities available for the authors. This facility not only provides the prompt publications of the manuscripts but at the same time also early availability of the manuscripts for the readers.
Indexation and online availability: Indexation transforms the journal in some sense from its local ownership to the worldwide professional community and to the public.JCDR is indexed with Embase & EMbiology, Google Scholar, Index Copernicus, Chemical Abstracts Service, Journal seek Database, Indian Science Abstracts, to name few of them. Manuscriptspublished in JCDR are available on major search engines ie; google, yahoo, msn.
In the era of fast growing newer technologies, and in computer and internet friendly environment the manuscripts preparation, submission, review, revision, etc and all can be done and checked with a click from all corer of the world, at any time. Of course there is always a scope for improvement in every field and none is perfect. To progress, one needs to identify the areas of one's weakness and to strengthen them.
It is well said that "happy beginning is half done" and it fits perfectly with JCDR. It has grown considerably and I feel it has already grown up from its infancy to adolescence, achieving the status of standard online e-journal form Indian continent since its inception in Feb 2007. This had been made possible due to the efforts and the hard work put in it. The way the JCDR is improving with every new volume, with good quality original manuscripts, makes it a quality journal for readers. I must thank and congratulate Dr Hemant Jain, Editor-in-Chief JCDR and his team for their sincere efforts, dedication, and determination for making JCDR a fast growing journal.
Every one of us: authors, reviewers, editors, and publisher are responsible for enhancing the stature of the journal. I wish for a great success for JCDR."



Thanking you
With sincere regards
Dr. Rajendra Kumar Ghritlaharey, M.S., M. Ch., FAIS
Associate Professor,
Department of Paediatric Surgery, Gandhi Medical College & Associated
Kamla Nehru & Hamidia Hospitals Bhopal, Madhya Pradesh 462 001 (India)
E-mail: drrajendrak1@rediffmail.com
On May 11,2011




Dr. Shankar P.R.

"On looking back through my Gmail archives after being requested by the journal to write a short editorial about my experiences of publishing with the Journal of Clinical and Diagnostic Research (JCDR), I came across an e-mail from Dr. Hemant Jain, Editor, in March 2007, which introduced the new electronic journal. The main features of the journal which were outlined in the e-mail were extensive author support, cash rewards, the peer review process, and other salient features of the journal.
Over a span of over four years, we (I and my colleagues) have published around 25 articles in the journal. In this editorial, I plan to briefly discuss my experiences of publishing with JCDR and the strengths of the journal and to finally address the areas for improvement.
My experiences of publishing with JCDR: Overall, my experiences of publishing withJCDR have been positive. The best point about the journal is that it responds to queries from the author. This may seem to be simple and not too much to ask for, but unfortunately, many journals in the subcontinent and from many developing countries do not respond or they respond with a long delay to the queries from the authors 1. The reasons could be many, including lack of optimal secretarial and other support. Another problem with many journals is the slowness of the review process. Editorial processing and peer review can take anywhere between a year to two years with some journals. Also, some journals do not keep the contributors informed about the progress of the review process. Due to the long review process, the articles can lose their relevance and topicality. A major benefit with JCDR is the timeliness and promptness of its response. In Dr Jain's e-mail which was sent to me in 2007, before the introduction of the Pre-publishing system, he had stated that he had received my submission and that he would get back to me within seven days and he did!
Most of the manuscripts are published within 3 to 4 months of their submission if they are found to be suitable after the review process. JCDR is published bimonthly and the accepted articles were usually published in the next issue. Recently, due to the increased volume of the submissions, the review process has become slower and it ?? Section can take from 4 to 6 months for the articles to be reviewed. The journal has an extensive author support system and it has recently introduced a paid expedited review process. The journal also mentions the average time for processing the manuscript under different submission systems - regular submission and expedited review.
Strengths of the journal: The journal has an online first facility in which the accepted manuscripts may be published on the website before being included in a regular issue of the journal. This cuts down the time between their acceptance and the publication. The journal is indexed in many databases, though not in PubMed. The editorial board should now take steps to index the journal in PubMed. The journal has a system of notifying readers through e-mail when a new issue is released. Also, the articles are available in both the HTML and the PDF formats. I especially like the new and colorful page format of the journal. Also, the access statistics of the articles are available. The prepublication and the manuscript tracking system are also helpful for the authors.
Areas for improvement: In certain cases, I felt that the peer review process of the manuscripts was not up to international standards and that it should be strengthened. Also, the number of manuscripts in an issue is high and it may be difficult for readers to go through all of them. The journal can consider tightening of the peer review process and increasing the quality standards for the acceptance of the manuscripts. I faced occasional problems with the online manuscript submission (Pre-publishing) system, which have to be addressed.
Overall, the publishing process with JCDR has been smooth, quick and relatively hassle free and I can recommend other authors to consider the journal as an outlet for their work."



Dr. P. Ravi Shankar
KIST Medical College, P.O. Box 14142, Kathmandu, Nepal.
E-mail: ravi.dr.shankar@gmail.com
On April 2011

Important Notice

Case report
Year : 2011 | Month : December | Volume : 5 | Issue : 8 | Page : 1641 - 1645

The diagnosis of Morquio disease correlating the clinical, radiological and biochemical findings – a case series

Kamlesh Palandurkar, Sumit Thakur, Udit Agrawal, Madhur M Goyal, Anjan Basak

1. Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha-442004.India. 2. Department of Biochemistry and Paediatrics, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha-442004.India. 3. Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha-442004.India. 4. Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha-442004.India. 5. Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha-442004.India.

Correspondence Address :
Anjan Basak
Department of Biochemistry,
Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.),
Wardha-442004.India.
E-mail: drabasak1@yahoo.com

Abstract

Background: Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis.

Materials and methods: We had conglomerated clinical findings, radiological and Ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in two pediatric patients.

Case summary: Both the cases of Morquio disease were characterized by short-trunk, dwarfism, fine corneal deposits, a skeletal dysplasia that was distinct from other MPS and their intelligence were normal. Radiological features were suggestive of Morquio syndrome and urine GAG test for MPS was positive in both the cases.

Discussion and Conclusion: With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. Combination of clinical, radiological and biochemical findings confirmed the diagnosis of Morquio syndrome in these two cases.

Keywords

Morquio disease, diagnosis, clinical, radiological, biochemical.

How to cite this article :

Kamlesh Palandurkar, Sumit Thakur, Udit Agrawal, Madhur M Goyal, Anjan Basak. THE DIAGNOSIS OF MORQUIO DISEASE CORRELATING THE CLINICAL, RADIOLOGICAL AND BIOCHEMICAL FINDINGS – A CASE SERIES. Journal of Clinical and Diagnostic Research [serial online] 2011 December [cited: 2019 Sep 20 ]; 5:1641-1645. Available from
http://www.jcdr.net/back_issues.asp?issn=0973-709x&year=2011&month=December&volume=5&issue=8&page=1641-1645&id=1781

Introduction
Mucopolysaccharidoses (MPS) are a group of inherited storage diseases which are caused due to the deficiency of lysosomal enzymes which are needed to degrade glycosaminoglycans (GAGs). GAGs are the polymers of a disaccharide unit which are composed generally of uronic acid and sulphated amino or N-acetylated monosacchrides. GAGs are linked to proteins to form proteoglycans, which are the major constituents of the connective tissue as well as the nuclear membranes. The degradation of the proteoglycans starts with the proteolytic removal of the proteins, followed by the stepwise degradation of the GAG moiety. The failure to degrade due to an absent or a grossly reduced activity of the mutated lysosomal enzymes results in the intra-lysosomal accumulation of GAG. The distended lysosomes accumulate in the cell and interfere with the cellular functions. This leads to a characteristic pattern of clinical, radiological and biochemical abnormalities.

The Morquio disease (MPS IV) is caused by a deficiency of N-acetyl galactosamine-6-sulfatase or β-galactosidase. Both results in the defective degradation of keratan sulfate which is abundant in the cornea as well as in the loose connective tissue. Keratan sulfate plays a critical role in the corneal transparency(1).

Case Series
We obtained the Institutional Ethical Committee’s clearance before the start of the study. We also obtained the informed consent from the parents of the study subjects and permission from the patient’s parents for the publication of the pictures and the radiographs.

In the last 10 month period, two cases of Morquio disease were diagnosed at our rural hospital. Case I (05years/F) reported to the Paediatric and the Case II (07years/F) to the Orthopaedic Department of our hospital with similar complaints of multiple deformities in both the upper and lower limbs, a protruding anterior chest and growth retardation.

There was no history of (h/o) constipation, diarrhoea, vomiting, bleeding, jaundice, seizures, weight loss, loss of appetite or consciousness in both the cases. Also, their bladder and bowel habits were normal.

The developmental milestones were normal as per their age. Both are well immunized as per their age according to the immunization program of the Indian Association of Paediatrics.

There were no past h/o tuberculosis, diabetes mellitus, asthma or any chronic respiratory or gastrointestinal disorder.

The family h/o both the cases did not show any similar complaints.

On examination, both the cases were found to have bossing of the head, pigeon’s chest, Harrisons’s sulcus, ulnar deviation of both the forearms, knock knees, bowing of the legs, kyphosis and short trunks.

Case I also had a depressed nasal bridge and a pot belly appearance of the abdomen, with a normal umbilicus. On palpation, her abdomen was found to be soft and non-tender. The liver was just palpable below the right costal margin, in the mid-clavicular line and she had no other organomegaly. Case II did not have any organomegaly at all.

In both the cases, on auscultation, no murmur was heard with the normal first and second heart sounds. No accessory sound was auscultated.

Neurologically, both the females were normal, except that they had a waddling gait. The intelligence was normal in both these cases.

To differentiate these cases from other neurodegenerative and dwarfing conditions, their pathological, ophthalmologic as well as radiological examinations were done and the findings were as follows:

X-ray findings: The findings which were common to both the cases were -a) Chest: Ribs over ribs appearance (Table/Fig 1) and(Table/Fig 2), b) Bilateral limbs: irregular epiphysial ends with osteopaenia (Table/Fig 3) and (Table/Fig 4), c) Vertebra: bullet vertebra (anterior beaking of the vertebra) (Table/Fig 5) and(Table/Fig 6), d) Hands: irregular epiphysial plates with anterior spiking of the proximal ends of the metaphysis (Table/Fig 7) and(Table/Fig 8), e) Hip: narrowed sciatic notch with flattening of the acetabulum roof (Table/Fig 9) and (Table/Fig 10), f) Both knees: genu vulgus deformity [Table/Fig11 and 12].

In case I, the radiograph of skull showed a ‘J’ shaped sella tursica, which was an unusual presentation (Figure-13).

Pathological findings:
In both the cases, there were no abnormalities in the peripheral smear, except for mildly hypochromic RBCs. Their urine reports were normal.

Ophthalmologic findings:
In case I, there was no corneal clouding or any other significant changes. But in case II, there was a bilateral corneal haze which was detected by slit lamp examination (2), (3).

With the help of all these features and findings, we could successfully distinguish the dysostosis multiplex from other conditions. The biochemistry was diagnostic and it helped in distinguishing MPS from other dysostosis multiplex conditions.

Biochemical findings:
Her blood biochemistry was normal. The phosphate, calcium, vitamin D and the parathromone levels were normal.

The Cetylpyridinium Chloride (CPC) test for Mucopolysaccharidosis (urinary GAG fragments) was positive in the urines of these patients (4).

Principle of the test:
Interaction between the cationic, quaternery ammonium compound, Cetylpyridinium Chloride and polyanionic glycosaminoglycans results in turbidity in the test (T), which can be compared with the standard (S) (chondroitin sulphate). Appearance of turbidity in the test as in the standard suggests the presence of a significant amount of GAG in the urine.

Unfortunately, we could not perform the enzyme assay due to lack of the facility for it in our hospital.

We made the diagnosis of Morquio disease on the basis of the clinical, pathological, ophthalmological,radiological and biochemical examinations of the patients.

Discussion

MPS is a group of inherited diseases which is characterized by defective lysosomal enzymes which are responsible for the degradation of mucopolysaccharides, which leads to the accumulation of incompletely degraded mucopolysaccharides in the lysosomes that affect various organs of the human body.

The incidence of MPS is between 3.5 to 4.5/100,000(5). The most common subtype is MPS III (5).

We have reported these cases of MPS as it is a rare disease and also Morquio is not the common presentation among the MPS.

Morquio disease (MPS IV) is caused by the deficiency of N-acetylgalactosamine-6-sulfatase (MPS IV-A) or β-galactosidase(MPS IV-B). Both the types of Morquio disease are characterized by short-trunks, dwarfism, fine corneal deposits, skeletal dysplasia that are distinct from other MPS, and the preservation of intelligence (5), (6), (7), (8).

Both our patients were females and they had almost similar presentations with some unusual findings. In Morquio disease, the cornea is usually involved but case I had a normal cornea. The cardiac anomalies which are found usually are atrial regurgitation and mitral regurgitation or coronary atrial diseases. But both these cases didn’t have any cardiac involvement. Radiologically, there was no ‘J’ shaped sella in the MPS IV case (9). Case I had this unusual feature in her skull radiograph (9), (10),(11). Usually, in Morquio disease, the diagnosis is missed by the CPC test (5), but in both these cases we got positive results.

These cases mimicked other dwarfing conditions on clinical presentation. Radiologically, we could differentiate the dysostosis multiplex from the other conditions. But for the diagnosis of MPS, biochemical tests are the definitive diagnostic tools (6).

The urinary detection of GAG to distinguish MPS from the other dysostosis multiplex by the CPC test not only helps in making the correct diagnosis, but it is also rapid and inexpensive. Also, there is no need of any costly equipment to do the test. This rapid and cost-effective test is effective for the diagnosis of MPS at rural hospitals.

Conclusion

We could successfully diagnose the atypical presentations of two cases of Morquio disease by the simple, rapid and inexpensive Cetylpyridinium Chloride test.

Acknowledgement

The authors are grateful to the Datta Meghe Institute of Medical Sciences (Deemed University) for funding for this work.

References

1.
Murray RK, Keeley FW. The Extracellular Matrix. In: Harper’s Illustrated Biochemistry, Mc Graw Hill, New Delhi, India 2009;28th ed:536-38.
2.
Ashworth JL, Biswas S, Wraith E, Lloyd IC: Mucopolysaccharidoses and the eye. Surv Ophthalmol 2006; 51:1-17
3.
Käsmann-Kellner B, Weindler J, Pfau B, Ruprecht KW. Ocular changes in Mucopolysaccharidosis IV A (Morquio A Syndrome) and the longterm results of perforating keratoplasty. Ophthalmologica 1999; 213: 200-05
4.
Pennock, C.A A review and selection of simple laboratory methods which are used for the study of glycosaminoglycan excretion and the diagnosis of mucopolysaccharidoses. J. Clin. Pathol., 1976;29 : 111- 23.
5.
Spranger J. Mucopolysaccharidosis. In: Nelson. Textbook of Pediatrics, 18th ed. Elsevier, New Delhi, India, 2008; 620-6.
6.
Maroteaux P, Leveque B, Marie J, Lamy M. A new dysostosis with the urinary elimination of chondroitin sulfate B. Presse Med 1963; 71:1849-52.
7.
Meikle PJ, Grasby DJ, Dean CJ, et al.: Newborn screening for lysosomal storage disorders. Mol Genet Metab 2006;88:307-14
8.
Shah GS, Mahal T, Sharma S. An atypical clinical presentation of mucopolysaccharidosis type II (Hunter syndrome): a case report. J of Med Case Rep. 2010; 4:154-7.
9.
Lachmann R S. Skeletal dysplasias. In: CAFFEY’S Pediatric Diagnostic Imaging, 11th ed. Elsevier, Philadelphia,2008; 2649-53.
10.
Renton P, Green R. Congenital skeletal anomalies, skeletal dysplasias and chromosomal disorders. In: Textbook of Radiology and Imaging, 7th ed. Elsevier, London, 2003; 1145-46.
11.
Eisenberg RL. Spine Patterns. In: Clinical Imaging, An Atlas of Differential Diagnosis, 5th ed. Publisher: Lippincott Williams & Wilkins, Philadelphia, 2010; 1194-212.

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