Clinical case: type II/IIIA mucolipidosis in a child

Introduction. The problem of hereditary metabolic diseases remains relevant. Mucolipidosis (ML) is a hereditary, autosomal recessive orphan disease caused by a defect in the GNPTAB gene, which encodes alpha and beta subunits of the enzyme N-acetylglucosamine-1-phosphotransferase. Deficiency of this enzyme leads to the accumulation of acid hydrolases in the lysosomes of the liver, spleen, lung and brain cells. The disease is rare, has no pathognomonic symptoms at the initial stages and therefore deserves special attention of clinicians. Patients with ML are characterized by a special phenotype: multiple stigmas of dysembriogenesis, ricket-like skeletal changes, mental retardation. The diagnosis is confirmed by a genetic study.

Materials and methods. A case of type II/IIIA mucolipidosis in a three-year-old boy is presented.

Results. The diagnosis was made immediately after the birth, and confirmed by the age of 4 months. Since his birth, the child had a characteristic phenotype and changes in the internal organs: ventriculomegaly, bicuspid aortic valve, increased kidney size, gallbladder deformity, splenomegaly, as well as changes in the bone tissue. Up to the age of one year, the child did not suffer from respiratory infections, but significantly lagged behind in physical and psychomotor development. Acute respiratory viral infections with bronchoobstructive syndrome and pneumonia  after the age of one, sharply slowed down his development and worsened the course of the underlying disease. At the age of 3 years and 11 months, the child does not sit, does not stand, does not walk, does not control the functions of the pelvic organs, does not talk. In the recent months, there has been noted a violation of the act of swallowing and the child was gastrostomized.

Conclusions. The description of the  case is aimed at attracting the attention of pediatricians to the peculiarities of following up children with this pathology at the district polyclinic as well as  ensuring a multidisciplinary approach when monitoring a patient with accumulation diseases, and conducting timely specific preventive measures against intercurrent diseases (vaccination).