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Diagnosis of Sanfilippo Disease Correlating Clinical, Radiological and Biochemical Findings–A Case Report

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Abstract

Mucopolysaccharidoses (MPS) are a group of genetic diseases and its diagnosis is a challenging task due to multiple differential diagnosis. We had combined clinical findings, radiological and ophthalmological features. Biochemical test for urine glycosaminoglycans (GAG) was done for confirmation of diagnosis in the patient. The case of Sanfilippo disease was characterized by slowly progressive, severe CNS involvement with mild somatic disease. Radiological features were suggestive of Sanfilippo disease and urine GAG test for MPS was positive in the case. With the clinical features we had multiple differential diagnoses. The radiological investigations minimized the list and the biochemical test confirmed GAG in urine. In this case the combination of clinical, radiological and biochemical findings confirmed the diagnosis of Sanfilippo disease.

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Acknowledgments

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

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The author(s) declare no conflict of interests.

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Authors and Affiliations

  1. Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha, 442004, India

    Udit Agrawal, Ajay Meshram & Kamlesh Palandurkar

  2. Department of Peadiatrics, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.), Wardha, 442004, India

    Jayant Vagha & Kirti Swarnkar

Authors
  1. Udit Agrawal
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  2. Ajay Meshram
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  3. Jayant Vagha
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  4. Kirti Swarnkar
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  5. Kamlesh Palandurkar
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Correspondence to Udit Agrawal.

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Agrawal, U., Meshram, A., Vagha, J. et al. Diagnosis of Sanfilippo Disease Correlating Clinical, Radiological and Biochemical Findings–A Case Report. Ind J Clin Biochem 27, 417–421 (2012). https://doi.org/10.1007/s12291-012-0211-1

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  • DOI: https://doi.org/10.1007/s12291-012-0211-1

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