Elena StezhkinaRyazan State Medical University, Russia
Title: Children 's Peitz-Jagers syndrome hidden under the symptoms of posthemmorrahic anemia
Although phacomatoses are a well-studied group of inherited progressive diseases with early symptomatology, the number of cases of late diagnosis in real clinical practice is quite high. Peutz-Yeghers syndrome (PJS) is a variant of phacomatosis that requires early diagnosis and monitoring by a team of specialists to manage the course of treatment. This syndrome was first described at the beginning of the last century and was investigated by dermatologists, gastroenterologists, oncologists and surgeons because of the clinical heterogeneity of intestinal and cutaneous manifestations.
According to epidemiological data, the prevalence of this syndrome ranges from 1:25,000 to 1:280,000 among the newborns.
As the example we have a clinical case of a 13-years-old girl with PJS under the mask of post-hemorrhagic anemia. The presented clinical observation, it should be noted that the diagnosis of PJS is considered reliable in the presence of at least one of the listed signs:
- The presence of two or more histologically confirmed hamartoma polyps;
- any number of polyps detected in a patient who has a close relative who carries the syndrome;
- Hyperpigmentation in typical areas of the syndrome and presence of a relative who carries the syndrome;
- any number of polyps combined with hyperpigmentation in typical locations in one individual
In the presented clinical example of a child with PJS, we can observe the course and see the circle of recurrent pathological processes with predominant involvement of the urinary system (granulomatous cystitis, neurogenic bladder) and GI (polyposis and inhalation), periodically leading to chronic intestinal bleeding, post-hemorrhagic anemia and requiring surgical correction at a certain stage.
The interdisciplinary approach of specialists (pediatricians, proctologists, oncologists, morphologists, geneticists, and molecular biologists) in the diagnosis of this disease is important for the well-tined detection of syndrome carriers and better prognosis in these patients.
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