The Story of a Hiding Disease

Background: Paediatric malignancies are rare diseases, however their incidence show a mild increase worldwide. Certain types of tumours may show more typical symptoms, while others can imitate numerous less pathologic conditions affecting organs of the corresponding anatomical locations.

Due to the growing incidence and an often non-specific clinical course it is particularly important to keep track of these not univocal signs besides taking careful medical history, and performing thorough physical examination.

Objective: The presentation will discuss the case of a currently 7-year-old boy, whose persistent, non-specific symptoms’ background was failed to be identified despite of multiple examinations partly initiated by his parents.

Although the infant was examined because of diverse neurodevelopmental and gastroenterological complaints as early as from 2 months of age by neurologists, radiologists and a gastroenterologist, he was eventually diagnosed with stage IV neuroblastoma having found metastatic lymph nodes at the age of 1 year old.

Chemotherapies of two consecutively applied protocols did not result in decrease of the size of the inoperable tumour, however, full regression was achieved at metastasis level. According to the decision of the Tumour Board, the child has not been given any treatment since the tumour has been showing no activity for several years.

Conclusion: Approximately ¼ of tumours occurring under the age of 14 years is of central nervous system origin, amongst these neuroblastoma is highly typical in infants and toddlers. Neoplasms appearing at various ages manifest diverse symptoms due to age characteristics, and their prognosis is significantly different.

Although in this case there were more, non-specific, progressive symptoms and complaints due to the growth of the active tumour, their holistic interpretation did not happen on any level of healthcare.

Hopefully through presenting this case and discussing international clinical guidelines, a hidden disease like this will be earlier and easier diagnosed.