Comorbid Cardiovascular Malformation and Type II Mucolipidosis: Clinical Case

Background. Type II mucolipidosis (I-cell disease, ICD) is one of the lysosomal storage diseases. It is very rare disease; the literature describes only few cases with confirmed diagnosis of mucolipidosis. Cardiovascular changes in children with such pathology are even less often. Clinical case description. The article describes the clinical case of type II mucolipidosis alongside with cardiovascular pathology — valvular heart apparatus defect with abdominal aortic hypoplasia and reversible myocardial dysfunction on the therapy of chronic heart failure (CHF). The patient has coarse face, gingival hyperplasia, macroglossia, dysostosis multiplex, diffuse muscular hypotonia, and mass of subcutaneous tissue. Arterial hypertension, heart cavities dilatation, left ventricular (LV) walls hypertrophy, and data of CT aortography let us to diagnosis abdominal aortic hypoplasia. Conclusion. Cardiovascular malformation in patients with mucolipidosis leads to severe, life-threatening conditions development. Untimely diagnosis can worsen the course of disease. Multidisciplinary approach is needed for the patient management.

type II mucolipidosis, lysosomal storage disease, gene GNPTAB, I-cell disease, neonatal hyperparathyroidism, abdominal aortic hypoplasia

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