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.

Mönckeberg's disease, a rare medial calcific arteriosclerosis, predominantly affects lower extremity arteries with an unclear etiology. If untreated, severe complications like ischemic necrosis and gangrene may arise. We present a case of a 28-year-old male with spontaneous lower limb swelling, abscess, and itching. Despite a history of deep vein thrombosis and warfarin therapy, Mönckeberg's disease was suspected. Imaging revealed diffuse vascular calcification of the media of the arterial wall bilaterally in the right and left femoral vessels with heterogenous irregular soft tissue collection in the right with suspected infection. Following treatment, the patient's symptoms improved, and follow-up imaging showed resolution of fluid collections and improved calcification appearance. This report highlights the importance of considering Mönckeberg's disease in the differential diagnosis of lower extremity swelling and the need for timely management to prevent serious complications.

Background: Medullary brainstem lesions are rare tumors that are challenging to treat due to their location in the brainstem, which controls vital functions such as breathing, heart rate, and blood pressure. While the most common subtype is the aggressive diffuse intrinsic pontine glioma, other subtypes exist, including focal brainstem gliomas and cervicomedullary gliomas. The prognosis for patients with brainstem gliomas is generally poor, and treatment options are limited. Early detection and treatment are crucial to improve outcomes for patients with these tumors. Case Description: In this case report, the authors describe a 28-year-old male from Saudi Arabia who presented with headaches and vomiting. Imaging studies and clinical examination revealed a high-grade astrocytoma medullary brainstem lesion. The patient underwent radiation therapy and chemotherapy, effectively controlling tumor growth and improving his quality of life. However, a residual tumor remained, and the patient underwent neurosurgery to resect the remaining tumor was successful in removing the tumor, and the patient showed significant improvement in his symptoms and overall health. Conclusion: This case highlights the importance of early detection and treatment of medullary brainstem lesions. While radiation therapy and chemotherapy are primary treatment options, neurosurgery may be necessary to resect residual tumors. In addition, cultural and social factors may need to be considered in managing these tumors in Saudi Arabia.