Diagnosis of Sanfilippo disease correlating clinical, radiological and biochemical findings-a case report

被引：1

作者：

Udit Agrawal

Ajay Meshram

Jayant Vagha

Kirti Swarnkar

Kamlesh Palandurkar

机构：

[1] Department of Biochemistry, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.)

[2] Department of Peadiatrics, Jawaharlal Nehru Medical College, D.M.I.M.S. (D.U.)

来源：

Indian Journal of Clinical Biochemistry | 2012年 / 27卷 / 4期

关键词：

Biochemical; Clinical; Diagnosis; Radiological; Sanfilippo disease;

D O I：

10.1007/s12291-012-0211-1

中图分类号：

学科分类号：

摘要：

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. © 2012 Association of Clinical Biochemists of India.

引用

页码：417 / 421

页数：4

共 10 条

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