Background/aims: Incidence of Autoimmune disease dramatically increases in children and adolescents in the past decades. But in other hand case of APS is rare. Signs and symptoms appear with different combination during the lifespan in different patients. Here we report case of APS syndrome with unusual presentation.
Case presentation: Patient 16.4 years old boy with diabetes mellitus since the age of 2.6 years. Mother died at age 40, when boy had 5 years, with gastric cancer, after that he had psychological problems. At the age of 12.6 years were diagnosed hypothyroidism-autoimmune thyroiditis, after that he received L-thyroxine. At the age of 14 appears problems with the skin, that at first was diagnosed as Psoriasis. Last hospitalization at the age of 16.4 years with clinical features of severe anemia. Based on clinical and paraclinical data analyses and catamnestic observation (The child had the same anemia at the age of 13 years, which was cut with appropriate treatment), this case was diagnosed with megaloblastic anemia caused by a B-12 deficiency. The situation was stabilized after therapy of vitamin B12, without glucocorticoids. After that, the boy was consulted with the dermatologist and diagnoses of psoriasis were changed with cutaneous candidiasis after diagnostic test. A physical examination shows retardation of growth (since 11 years) weight −32 kg-(−4.91 SDS), height-147 cm(−3.3 SDS), Tanner stage 2 pubic hair development, testes <4 ml, penile length-5 cm. His bone age was 13 years by the standards of Greulich and Pyle at a chronological age of 16 years. Insulin daily requirement-1,1 U/kg, L-thyroxine-100 μg/day. Electrolytes: K, Na, Ca, P-were normal. Complete blood count: Hb-5.2 g/dl, Ht-16%, anaemia is macrocytic (MCV>105fL), reticulocyts count is low, tr-52, Ieik-2,4 (Pancytopenia). Bone marrow: hypercellular with large erythroblasts, giant and abnormally shaped metamyelocytes. Serum B12 is low<51 ng/l. In ultrasound liver is always enlarged since 11 years by 24 m, ALT-65 U/l, AST-36 U/l, Cortisol-531.48 ng/ml, Mean HbA1c-7.3%, TSH-2.4 mIU/l, Anti-TPO-216.5 IU/ml, Anti-Tg-76.4 IU/ml.
Conclusion: Patient 16 years has DM, AIT, Pernicious anemia, cutaneous candidiasis, hypogonadism, that we give a possibility to diagnose APS. We think, that it is type 1 syndrome, although genetic testing for the AIRE gene was not made because of financial problems. Early identification of this syndrome gives us a chance to for early detection and proper management of associated conditions and its complication with maximal efficacy.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology