Rathke cleft cysts (RCCs) are non-neoplastic sellar lesions derived from remnants of Rathkes pouch, and mostly asymptomatic. Symptomatic RCCs occur usually in middle-age, are >1 cm, and cause pituitary hypofunction, diabetes insipidus, hyperprolactinemia or visual impairment. In children, RCCs are rare and usually asymptomatic. However, symptomatic cases may present with growth retardation and diabetes insipidus. We report two children with symptomatic RCC manifesting as growth retardation.
First case: A 14-year-old boy was admitted because of growth retardation (S.D.S. height −2.5) and delayed puberty. Serum levels of SmC (21 ng/ml), cortisol (4.23 μg/dl), fT4 (0.61 ng/dl) and T3 (0.8 ng/ml) were low, TSH (1.84 μIU/ml) was normal and PRL (2556 μIU/ml) elevated. Stimulation tests of growth hormone (GH) secretion showed low GH (GHmax 1.6 ng/ml). Pituitary MRI revealed an intra- and suprasellar mass 1.2×3.8×2.3 cm with solid and cystic elements. Visual fields were normal. After the start of cortisone and thyroxine the child presented polydipsia, and polyuria. Diabetes insipidus was diagnosed with water deprivation test and treatment with desmopressine was started. Trans-sphenoidal dissection was performed. Histological examination showed a RCC. Postoperatively, treatment with recombinant human growth hormone (rhGH) was started improving childs height.
Second case: A 12-year-old girl was admitted because of growth retardation (S.D.S. height −2.5). Hormonal tests were normal except for low level of SmC (220 ng/ml) and stimulation tests of GH secretion (GHmax 4.2 ng/ml). Pituitary MRI revealed an intrasellar cyst 1.5×1.2×1.2 cm. Visual fields were normal. Trans-sphenoidal dissection was performed. Histological examination showed a RCC. Postoperatively, the child presented polydipsia, polyuria and a water deprivation test revealed diabetes insipidus and she started treatment with desmopressine. Height was improved with rhGH.
Conclusion: RCC should be considered in growth retardation and/or hypopituitarism in children. Pituitary MRI can reveal the lesion. Early detection and treatment is mandatory to prevent or to inverse growth retardation and other pituitary hormones failure.
03 - 07 May 2008
European Society of Endocrinology