Cureus · 7 authors, 4 centres
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This case report describes a three-year-old Saudi male with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome) who presented with recurrent chest infections, skeletal deformities, and cardiac abnormalities. The diagnosis was confirmed by genetic testing, and the patient received enzyme replacement therapy. The case highlights the need for early recognition of MPS VI in children with recurrent respiratory symptoms and dysmorphic features to improve outcomes.
**Background** Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a rare autosomal recessive lysosomal storage disease caused by deficiency of arylsulfatase B (ARSB), leading to accumulation of dermatan sulfate. It presents with multi-systemic involvement including skeletal, cardiovascular, and respiratory systems. Early diagnosis is crucial for timely enzyme replacement therapy (ERT) to slow disease progression. This case report describes a Saudi male child with MPS VI who had recurrent chest infections as a key presenting feature.
**Methods** This is a single case report of a three-year-old Saudi male child born after normal vaginal delivery. He had multiple hospital admissions starting at two months of age due to nasal obstruction, cough, and shortness of breath, initially diagnosed as bronchiolitis and pneumonia. Over subsequent admissions (at 7 months, 1 year, 15 months, 23 months, and 3 years), he presented with recurrent respiratory complaints, developmental delay, dysmorphic features, hepatosplenomegaly, and skeletal abnormalities. Diagnostic workup included complete blood count (CBC), fasting glucose, serum electrolytes, liver and renal function tests, thyroid function test (TFT), blood culture, MRSA screening, genetic testing, abdominal ultrasound, echocardiography, and X-rays of the forearm and chest.
**Key Results** - Laboratory findings at diagnosis: hemoglobin 10 g/dL (low), eosinophils 0.19 cells/μL (low), hematocrit 32.5% (low), mean platelet volume 9.1 fL (high), fasting glucose 6.7 mmol/L (high), alkaline phosphatase 298 IU/L (high). Other labs were normal. - Genetic study confirmed mucopolysaccharidosis type VI. - Abdominal ultrasound showed hepatosplenomegaly. - Echocardiography revealed situs solitus, concordant connections, intact interatrial septum, thickened bicuspid aortic valve, mild aortic regurgitation, and mitral regurgitation. No VSD, PDA, aortic stenosis, ventricular hypertrophy, LVOT, or RVOT. - Forearm X-ray showed wide short diaphysis, flattened epiphysis flares of upper limb bones, and bullet-shaped metacarpal bones. - Chest X-ray showed narrowing of ribs on sternal end and widening on vertebral end, scapular dyskinesis, hypoplasia of lateral end of clavicle, broadening clavicles, and short neck. - The patient received ERT plus conservative treatment (antibiotics, oxygen, nebulizers, IV fluids).
**Clinical Implications** This case underscores the importance of considering MPS VI in children presenting with recurrent respiratory infections, dysmorphic features, skeletal deformities, and hepatosplenomegaly. Early diagnosis allows initiation of ERT, which can slow disease progression and improve quality of life. The report also highlights the need for increased physician awareness, especially in regions with higher prevalence like Saudi Arabia, to avoid delayed diagnosis and irreversible organ damage.