ABSTRACT
Introduction and importance: Hurler syndrome, also known as mucopolysaccharidoses type I, is a rare autosomal recessive lysosomal storage disorder with decreased activities of α-L iduronidase, resulting in the accumulation of glycosaminoglycans (GAGs) within various tissues. Case presentation: The authors presented a case report of a 15-year-old male who presented with a lower respiratory tract infection and was admitted to the pediatrics department with a history of facial dysmorphism, skeletal abnormalities, and corneal clouding and below-normal cognitive function which is consistent with the Hurler-Scheie syndrome. Skeletal abnormalities include inverted j-shaped sella turcica, bullet-shaped phalanges, thoracolumbar kyphosis, and acetabular dysplasia. Clinical discussion: Mucopolysaccharidosis I is classically divided into three syndromes, that is, Hurler syndrome (the severe form), Hurler-Scheie syndrome (the intermediate form), and Scheie syndrome (the attenuated form). Most of a doctor's first diagnosis is based on their observation of the signs and symptoms. Conclusion: Early disease diagnosis, genetic counseling, and regular follow-up with recent treatment modalities can reduce mortality significantly and improve the child's health status.
ABSTRACT
We present a case of a 22-year-old male presenting in the emergency room with colicky abdominal pain, vomiting, and abdominal distension for which an early computed tomography scan was done and diagnosed as cecal volvulus. Following diagnosis case was managed promptly by laparotomy with right hemicolectomy and primary anastomosis.
