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A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia.

ABSTRACT: Mucopolysaccharidoses (MPSs) are a class of lysosomal storage disorders resulting in progressive disease manifestations and are caused by pathogenic variants in genes coding for enzymes needed to degrade glycosaminoglycans. While most of the seven MPSs are autosomal recessive disorders, MPS II, also known as Hunter syndrome, is inherited in an X-linked recessive manner and is the most common MPS. Here, we report a 1-year and 4-month-old boy who presented with delayed developmental milestones, back deformity, and left scrotal swelling noticed by parents at one year of age. He has coarse facial appearance with macrocephaly, widened wrists, congenital dermal melanocytosis on his back, kyphotic deformity in the thoracolumbar area and left-sided inguinal hernia all consistent with a suspected MPS II diagnosis. The MPS II diagnosis was subsequently confirmed with genetic testing of the IDS gene. To our knowledge, this is the first case of MPS II reported from Ethiopia. This case shows the importance of early clinical recognition of genetic conditions and the utility of genetic testing for confirmation. The diagnosis provided important surveillance and natural history information for the patient's providers and family.

SUBMITTER: Deribessa SJ

PROVIDER: S-EPMC8607870 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:BackgroundAbernethy malformation, also known as congenital extrahepatic portosystemic shunt, is an uncommon malformation resulting from aberrant development of the portal venous system. Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene. It mainly affects the exocrine glands of the respiratory, digestive and reproductive systems. It is considered extremely rare in the Asian population. We present a clinical case involving a pediatric patient of Asian descent who was diagnosed with Abernethy malformation and CF.Case summaryA 12-year-old girl presented with a medical history of recurring respiratory infections and hemoptysis, and chest computed tomography (CT) showed bronchiectasis. Whole exome sequencing was performed for the patient, yielding findings that revealed a compound heterozygous variant of the CFTR gene: c.233_c.234insT/p.Trp79fsTer3 (maternal origin); c.2909G>A/p.Gly970Asp (paternal origin). CF was diagnosed. The physician's attention was drawn to the presence of splenomegaly during disease progression. Abdominal enhanced CT revealed splenomegaly, compression of the left kidney, and multiple tortuous dilated vascular shadows were seen at the splenic hilum, which flowed back into the left renal vein and portal vein, suggesting Abernethy malformation type II. Intraoperatively, the abnormal blood flow was seen to merge into the inferior vena cava through the left renal vein without hepatic processing, and the pathology of liver biopsy showed hypoplastic, dilated or absent portal vein branches, both of which supported the diagnosis of Abernethy malformation type II. This represents the initial documented instance of Abernethy malformation accompanied by a CFTR gene mutation in the existing body of literature.ConclusionCoexisting Abernethy malformation and CF are rare. Detailed medical history information, abdominal enhanced CT, venography and genetic testing contribute to diagnosis as well as differential diagnosis.

Project description:Introduction and Importance A stab or penetrating wound is one of the etiologies of chest trauma. In the case of penetrating chest trauma, assessment of probable major vascular injuries must be done. Thoracic, vascular injuries, in particular brachiocephalic rupture, require the surgeon to make swift decisions for repair as the wrong approach or incision could quickly lead to mortality. Case presentation Here, we report a case of a hemodynamically stable 9-year-old boy presenting with a stab wound by a fishing arrow. CT scan showed the fishing arrow projection at the suprasternal notch extended to the right hemithorax where the tip was near the brachiocephalic artery posterior wall. A sternotomy exploration and preservation of the proximal brachiocephalic artery, subclavian artery, and common carotid artery was done. We found a 0.5 cm rupture on the brachiocephalic truncus and performed a direct suture repair. Discussion Through this case, we present a vascular technique repair after the major thoracic artery rupture caused by a stab or penetrating wound. The principle of artery repair is to save the proximal and distal end of the ruptured artery, followed by a further safe and precise procedure. Conclusion The overall combination of approaches of chest trauma by a penetrating wound and vascular injury like brachiocephalic rupture without pseudoaneurysm or other asymptomatic high risks of vascular injury resulted in a satisfactory evaluation. In this case, leaving the arrow undisturbed is the key to the success of the first aid management before the patient is sent to the operating room. Highlights • Thoracic vascular injuries require swift decision-making as the wrong approach could quickly lead to mortality.• We present a hemodynamically stable 9-year-old boy with a fishing arrow stab wound on the right hemithorax.• Axial CT showed that the arrow was attached to the posterior wall of the brachiocephalic artery.• Sternotomy exploration was performed followed by direct vascular repair and release of the fishing arrow.

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A 1-year and 4-month-old child with mucopolysaccharidoses type II: A clinical case report from Ethiopia.

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