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... is under-weight and stunted for age and has relative macrocephaly. She had the following facial dysmorphic features: a prominent forehead, bitemporal narrowing, flattened facial profile, epicanthic folds, depressed nasal bridge with mild midface hypoplasia, prominent lips and fleshy ear helices (Figure 1). ...
Citations
... Mucopolysaccharidosis (MPS) is a collection of genetic mistakes in complex chemical catabolism, mostly affecting patients in their childhood, that comes in different forms that are caused by enzyme deficits and result in different clinical symptoms for each form [1][2][3][4]. Mucopolysaccharidosis VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive multi-systemic lysosomal storage disease that is autosomal recessive and caused by a lack of arylsulfatase B (ARSB), which causes dermatan sulfate to build up in the body, leading to the degradation of glycosaminoglycans (GAG), which is caused by mutations in the ARSB gene. It was first described by French doctors Pierre Maroteaux and Maurice Lamy in 1963 [5][6][7][8][9][10][11]. ...
... In general, examining the excretion of GAGs in the urine is typically the first step in the diagnosis of MPS VI. X-ray, ultrasound, computed tomography (CT), and magnetic resonance imaging (MRI) are routinely utilized diagnostic techniques for skeletal, cardiac, and cerebral involvements, as well as genetic studies [2,14]. ...
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.
