Figure - available from: Clinical Case Reports
This content is subject to copyright. Terms and conditions apply.
Physical appearance of the patient: The patient at 1 y of age showing evidence of coarse facies, prominent forehead, thick hair, bushy eyebrows, bulging eyes, broad nasal base, depressed nasal bridge, and macroglossia
Source publication
We report a patient with mucopolysaccharidosis type VI, on long‐term enzyme replacement home therapy. Results support the efficacy and safety benefits, with additional advantage of home therapy to minimize the risk of community‐transmitted infections. We report a patient with mucopolysaccharidosis type VI, on long‐term enzyme replacement home thera...
Citations
... Initially, children with MPS VI typically present in a healthy state at birth, with symptoms typically emerging within the first few months of life as a result of elevated GAG concentrations in cells. Although MPS VI is normally categorized as either slowly advancing or rapidly moving depending on the severity of the symptoms, it is now known to have an intermediate form of MPS between the two [12]. Patients with MPS VI experience a variety of multi-systemic symptoms over a typically progressive and chronic course that primarily affect their cardiovascular, respiratory, and skeletal systems, as well as their skin, cornea, liver, spleen, meninges, and brain. ...
Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) is a progressive multi-systemic autosomal recessive disease resulting from a deficiency of arylsulfatase B (N-acetylgalactosamine-4-sulfatase). Here we report the case of a three-year-old male child born full-term via normal vaginal delivery. He had frequent admissions due to a chest infection that started at two months of age. At the age of 23 months, he was admitted after complaining of shortness of breath (SOB) due to asthma and aspiration pneumonia; additionally, dysmorphic features were noticed (single palmar crease, short round toes, coarse facial features such as a flat nose, big lips).
A genetic study showed mucopolysaccharidosis VI (MPS VI). At three years of age, he was complaining of cough and SOB. Examination showed wheezing all over the chest, normal first and second heart sounds (S1 and S2), a murmur with no clicks, hepatosplenomegaly, and a palpable left kidney. However, the central nervous system (CNS) and eye examinations were normal. Echocardiography revealed a thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation. Therefore, the patient presented with different clinical symptoms of MPS VI.
It is important to increase the physicians' awareness about MPS by focusing on increasing the probability of MPS as a differential diagnosis whenever patients present with abnormal appearance, limb deformities, and recurrent unexplained infections; hence, making early diagnosis and treatment decisions, leading to a slowing down of the progression of the disease and enhancing the patient's quality of life.
