A case of pituitary stalk interruption syndrome diagnosed in a 2-year-old child masquerading as syndrome of inappropriate antidiuretic hormone secretion
Keywords:Pituitary stalk interruption syndrome, Anterior pituitary hormone deficiencies, Euvolemic hyponatremia, Hormone replacement therapy
Pituitary stalk interruption syndrome (PSIS) is included under the spectrum of midline abnormalities and is considered as a part of the holoprosencephaly (HPE) wide spectrum. Genetic basis has been identified in few familial cases. PSIS have anterior pituitary hormone deficiencies and a wide spectrum of clinical presentation. The typical clinical manifestations of PSIS are growth retardation, hypoglycemia and delayed puberty. We report a case of PSIS with hyponatremic seizures as initial presentation. Two-year-old girl with growth and development appropriate for age, presented with acute respiratory infection and generalized tonic clonic seizures. There was history of similar illness two weeks prior and was treated for hyponatremia. Child had euvolemic hyponatremia and symptomatic hypoglycemia. Serum cortisol level was observed to be low and thyroid function test was abnormal. MRI brain showed hypoplastic anterior pituitary and ectopic posterior pituitary (hallmark of PSIS) and absent septum pellucidum. Child was treated with hormone replacement therapy with hydrocortisone and thyroxine. Child improved and is on follow up. Clinical suspicion, early diagnosis and treatment prevent worsening of endocrine impairment, permanent short stature and associated morbidities with PSIS.
Gutch M, Kumar S, Razi SM, Saran S, Gupta KK. Pituitary stalk interruption syndrome: Case report of three cases with review of literature. J Pediatr Neurosci. 2014;9(2):188-91.
Arrigo T, Wasniewska M, Luca F, Valenzise M, Lombardo F, Vivenza D, et al. Congenital adenohypophysis aplasia: clinical features and analysis of the transcriptional factors for embryonic pituitary development. J Endocrinol Invest. 2006;29(3):208-13.
Pinto G, Netchine I, Sobrier ML, Brunelle F, Souberbielle JC, Brauner R. Pituitary stalk interruption syndrome: a clinical-biological-genetic assessment of its pathogenesis. J Clin Endocrinol Metab. 1997;82(10):3450-4.
Bar C, Zadro C, Diene G, Oliver I, Pienkowski C, Jouret B, et al. Pituitary Stalk Interruption Syndrome from Infancy to Adulthood: Clinical, Hormonal, and Radiological Assessment According to the Initial Presentation. PLoS One. 2015;10(11):142354.
Bansal N, Patel P, Panasara P, Khandelwal S, Patel D, Mrugesh. Atypical cause of short stature with growth hormone deficiency: Pituitary stalk interruption Syndrome. Eurodad. 2018.
Li J, Jia H, Chakraborty A, Gao Z. A case of pituitary stalk interruption syndrome with intermittent seizures as the first presentation. Neuro Endocrinol Lett. 2016;37(7):469-72.
Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R. Diagnosis of endocrine disease: Pituitary stalk interruption syndrome: etiology and clinical manifestations. Eur J Endocrinol. 2019;181(5):199-209.
Diederich S, Franzen NF, Bahr V, Oelkers W. Severe hyponatremia due to hypopituitarism with adrenal insufficiency: report on 28 cases. Eur J Endocrinol. 2003;148(6):609-17.
Voutetakis A, Sertedaki A, Dacou VC. Pituitary stalk interruption syndrome: cause, clinical manifestations, diagnosis, and management. Curr Opin Pediatr. 2016;28(4):545-50.
Chehadeh DS, Callier P, Masurel PA, Bensignor C, Mejean N, Payet M, Ragon C, et al. 17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome. Eur J Med Genet. 2011;54(3):369-73.