Mucopolysaccharidosis Type VI with Recurrent Chest Infection.

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.

Wernicke's Encephalopathy: A Precipitation of Glycogen Storage Disease.

A 16-year-old Saudi female who is a known case of glycogen storage disease type 1A (GSD1A), presented to the emergency department at King Faisal Specialist Hospital, Riyadh, Saudi Arabia on 15th January 2021 due to a complaint of persistent vomiting. Two weeks after admission, she began developing double vision and progressive leg weakness with intact sensation. She received the primary management to maintain good hydration and was admitted to the ICU for further workup. Over her hospital course, multiple investigations were conducted, the most significant of which was the MRI after sudden ocular deterioration. The result depicted findings classic for Wernicke's encephalopathy (WE) on MRI. The patient was then started on Thiamine supplementation and MRI performed three weeks later showed significant interval improvement of the parenchymal signal abnormality with complete resolution features of Wernicke's encephalopathy. This complex case emphasizes the need for early recognition and immediate treatment with IV thiamine in such a potential condition that can lead to permanent neurological deficits that present in a non-typical fashion.