ECE2021 Audio Eposter Presentations Adrenal and Cardiovascular Endocrinology (80 abstracts)
Niemann-Pick disease and endocrine disorders: A case report
Wafa Benothman , Maha Kacem , Ghada Saad , Safa Khaldi , Asma Benabdelkrim , Amel Maaroufi , Molka Chaeib , Yosra Hasni & Koussay Ach
CHU Farhat Hached, Endocrinology department, sousse, Tunisia
Introduction
Acid sphingomyelinase-deficient Niemann–Pick disease (NPD) is a lysosomal lipid storage disorder. We report a new case of Hashimoto thyroiditis associated to primary adrenal insufficiency (PAI) likely of infiltrative process occurring in NPD type B patient.
Observation
A 24-year-old Tunisian female patient was followed up in our endocrinology department for Hashimoto thyroiditis. Two years later, she was diagnosed with PAI. Laboratory studies showed elevated serum ACTH concentration (165 pg/ml), low morning serum cortisol concentration, and an abnormal cosyntropin stimulation test. PAI investigations were ensued. The patient had negative adrenal antibody test. Computed tomography imaging demonstrated a left adrenal mass of 3 cm with a density of 31 HU associated to a hepatosplenomegaly and diffuse infiltrative lung disease. Multifocal systemic tuberculosis was highly suspected. However, therapeutic test showed no response. The endocrine work up showed no hormonal secretion of the adrenal lesion that remained stable. Laboratory data showed prediabetes, dyslipidemia and cytolysis with thrombocytopenia and anemia. A bone marrow aspiration was in favor of NPD. On the grounds of these results the diagnosis of NPD type B was confirmed.
Conclusion
No cases of the coexisting of NPD with PAI and Hashimoto thyroiditis have been reported to our knowledge. Further studies are needed to ascertain whether multiple glandular dysfunction should be anticipated in NPD type B.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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