Myelodysplastic syndrome and pulmonary alveolar proteinosis in a 6-year-old girl with mutation of the ZBTB24 gene

In this article, we report a case of a 6-year-old girl, initially diagnosed with myelodysplastic syndrome (MDS), who presented a compound and uncharacteristic set of symptoms that included low level of lymphocytes, hypogammaglobulinemia, developmental delay and facial anomalies. An unconventional course of the disease gave premises to extended genetic diagnostic using next-generation sequencing, that provided the result of heterozygous ZBTB24 c.[1222T > G] cysteine-to-glycine missense mutation, which is characteristic of immunodeficiency, centromeric instability and facial dysmorphism syndrome type 2 (ICF2). During the treatment of hematologic disorders, the patient underwent allogenic stem cell transplantation (allo-HSCT). After performing allo-HSCT, another rare syndrome has been developed in form of pulmonary alveolar proteinosis (PAP). In this paper, we describe the whole diagnostic process, usage of drugs that include immunoglobulins, rituximab, steroids, azathioprine and performed therapeutic procedures, such as allo-HSCT and lung lavages. The unique value of this case lays in the coexistence of several rare diseases and response of the patient to multi-thread treatment.