ECE2022 Eposter Presentations Adrenal and Cardiovascular Endocrinology (131 abstracts)
Niemann-Pick disease type B and bilateral adrenal incidentalomas
Hamza Elfekih 1,2 , Sinda Allegue 1 , Monia Zaier 2,3 , Oumayma Zarrouk 1 , Hayfa Farid 1 , Amel Maaroufi 1,2 , Maha Kacem 1,2 , Molka Chadli Chaieb 1,2 , Yosra Hasni 1,2 & Koussay Ach 1,2
1Farhat-Hached University Hospital, Endocrinology-Diabetology Department, Sousse, Tunisia; 2Faculty of Medicine Ibn El Jazzar, University of Sousse, Sousse, Tunisia; 3Farhat-Hached University Hospital, Department of Clinical Hematology, Sousse, Tunisia.
Introduction: Niemann Pick disease is a rare autosomal recessive lysosomal storage disorder caused by a deficiency in acid sphingomyelinase. Usually discovered in childhood, it can affect liver, spleen and pulmonary function. Here, we report the case of a Niemann Pick type B disease in an adult associated with bilateral adrenal incidentalomas.
Observation: A 45-year-old male patient was found to have bilateral adrenal incidentalomas associated with hepatomegaly and multinodular splenomegaly, discovered by an abdominal CT scan that was requested during his follow-up for inguinal and umbilical hernia. MRI and CT scan with contrast showed bilateral adrenal hyperplasia and a 26 mm non-adenoma in the medial arm of the right adrenal gland. The patient’s clinical examination and biological workup were normal. Short synacthen test ruled out adrenal insufficiency. Plasma metanephrines and low-dose dexamethasone suppression test excluded adrenal hypersecretion. During etiological workup of the splenomegaly, the patient underwent a bone marrow biopsy revealing sea-blue histiocytosis. In addition, a serum acid sphingomyelinase activity assay revealed a deficiency (<0.3 μmol/l per hour) confirming the Niemann-Pick disease type B.
Discussion: The prevalence of adrenal incidentalomas is approximately 5% in the general population and they are bilateral in 7.8 to 15% of cases. Systematic etiological investigation of bilateral adrenal lesions is necessary to exclude malignancies and hypersecretions. Niemann-Pick diseases are characterized notably by hepatosplenomegaly and gradual deterioration in pulmonary function. Its association with bilateral adrenal hyperplasia, adrenal masses and sea-blue histiocytosis has not been previously reported in the literature.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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