Mucopolissacaridose tipo I em cão / Mucopolysaccharidosis type I in a dog

ABSTRACT

Background: Mucopolysaccharidoses (MPS) are a group of rare illnesses caused by deficient activity of enzymes requiredfor degradation of glycosaminoglycans (GAGs). Each type of MPS is caused by mutations in one of the genes that encodethe 11 acid hydrolases involved in this degradation process, which are present in the lysosomes. Progressive accumulationof GAGs in the lysosomes result in cellular dysfunction and multisystemic clinical signs, with consequent decrease in quality of life and lifespan of the affected patients. The objective of the present work is to report a case of MPS type I in a dog.Case A mixed-breed male dog of approximately 2-month-old weighing 2.5 kg was referred to Hospital Veterinário deUberaba with a distended abdomen. At the clinical examination, the patient exhibited a regular nutritional status, pale mucous membranes, 7% dehydration, an arterial pulse rate of 120 beats per minute, a respiratory rate of 40 breaths per minute,and a heart rate of 120 beats per minute. There were increased abdominal volume and tension, and hepatosplenomegaly.The abdominal percussion exam produced a dull tone. Additional findings included muscular atrophy, increased volume inthe metaphyseal areas of the thoracic and pelvic limbs, valgus limb deformity in the thoracic limbs, and instability of thehip joint. Radiographic examination revealed a series of bone alterations such as reduced vertebral bodies, a generalizeddecrease in radiopacity, thin cortical areas in long bones, narrowing of the pelvic canal, and marked deformation and irregularities in acetabular and epiphyseal (both proximal and distal) areas of the femurs and tibias. Ankylosis of the tibiotarsal andtarsometatarsal joints was also observed. There was also loss of trabecular structure and irregularities on the surfaces of allepiphyses of the bones, epiphyseal lines markedly open, and bones that were...