The first mucopolysaccharidosis type VII in a Taiwanese girl: A case report and review of the literature
| Autor: | Shuan-Pei Lin, Yun-Ting Lo, Chyong-Hsin Hsu, Ru-Yi Tu, Chih-Kuang Chuang, Huei-Ching Chiu, Chung-Lin Lee, Hsiang-Yu Lin, Ya-Hui Chang |
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| Rok vydání: | 2022 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities medicine.medical_specialty business.industry Mucopolysaccharidosis Sly syndrome Hepatosplenomegaly nutritional and metabolic diseases General Medicine Scoliosis Enzyme replacement therapy medicine.disease Short stature Gastroenterology Internal medicine Hydrops fetalis medicine Macroglossia medicine.symptom skin and connective tissue diseases business |
| Zdroj: | Journal of the Formosan Medical Association. 121:712-717 |
| ISSN: | 0929-6646 |
| Popis: | The present study included the first case of mucopolysaccharidosis (MPS) type VII in Taiwan. During pregnancy, the patient was diagnosed with hydrops fetalis and had ascites aspiration 4 times. In the following years, she presented gradually with chronic lung disease, developmental delay, short stature, dysmorphic features of coarse face, macroglossia and pigeon chest with scoliosis. Upon referral at age 4 years, she had corneal clouding, mild limitation of range of motion (ROM) and hepatosplenomegaly. X-ray showed paddle ribs and dysplastic vertebral bodies. MPS was suspected and urine glycosaminoglycans (GAGs) elevated were noted. The leukocyte enzymatic analyses for MPS I, MPS II, MPS IIIB, MPS IVA, and MPS VI were all normal. Afterward, the molecular analysis showed two heterozygous genetic variants of c.104C > A and c.1454C > T in trans in the GUSB gene ( NM_000181.4 ) which were the causes for MPS VII. Then, we checked the leukocyte β-glucuronidase activity for MPS VII and showed extremely low, therefore confirmed the diagnosis. Clinicians should increase the awareness on the early signs of MPS to have a prompt diagnosis and offer the correct treatment like enzyme replacement therapy (ERT) as early as possible. |
| Databáze: | OpenAIRE |
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