Introduction: Niemann Pick type B (NMP B) is a rare lysosomal storage disease caused by mutations in the SMPD1 gene. Typically, had normal height and weight. In this work, we report an unusual association of a Niemann Pick disease in a child with hypopituitarism.
We report the case of a young boy who was hospitalized at the age of 11, in Hematological Department for splenomegaly and polyadenopathies where the diagnosis of Niemann Pick's disease was retained. At the age of 13 endocrine examination revealed pubertal delay with a Tanner stage: P1A1G1 and testis volume has been 2 mL, confirmed by a frankly low testosterone level 0.02 ng/ml contrasting with low gonadotropin levels: LH 1.5 Ui/l and FSH 2.4 Ui/l . Growth and development delay (Weight: 31 kg,Z score: -2.5 SD, hight: 1.30 m, Z score -2.5 SD), Growth hormone was decreased after GH Stimulation Test, confirming GH deficiency, while IGF1 was within normal reference range, with integrity of other pituitary axes. Cerebral MRI showed an intra cranial arachnoidal cyst 8 x14 x 30 mm of the posterior fossa. Pituitary gland and sella turcica were normal.
Conclusion: We conclude that a Niemann Pick disease could be associated with Growth and pubertal delay. Nevertheless, GH deficiency should be investigated.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology