ECEESPE2025 ePoster Presentations Pituitary, Neuroendocrinology and Puberty (220 abstracts)
Celebral salt wasting syndrome in a patient with known central diabetes insipidus on the background of mcap overgrowth syndrome
Panagiota Georgia Maltezou 1 , Vasiliki Bekiou 1 , Argyrios Ntinopoulos 2 , Melpomeni Giorgi 2 , Maria Spanou 2 , Vasiliki Zouvelou 2 , Maria Angeli 2 , Artemis Stephanede 2 , Eftstathios Stefos 2 , Kiriaki Chatziagapiou 1 & Foteini-Eleni Karachaliou 1
1Pediatric Endocrinology Unit, Athens University Hospital Attikon, Athens, Greece, Athens, Greece; 2Pediatric Neurology Unit, Athens University Hospital Attikon, Athens, Greece, Athens, Greece
JOINT3034
Introduction: Salt-wasting syndrome constitutes a significant disorder of sodium and water homeostasis, commonly observed in individuals with intracranial pathology, such as central nervous system infections, cerebral ischemia, elevated intracranial pressure, or following neurosurgical procedures. Central diabetes insipidus is another disorder affecting sodium homeostasis and is associated with these conditions. The coexistence of these two disorders poses a substantial challenge for pediatric endocrinologists, particularly in critically ill patients.
Aim/Methods: We present the case of a patient with MCAP overgrowth syndrome who developed salt-wasting syndrome on the background of pre-existing central diabetes insipidus.
Results: The patient had a known history of MCAP syndrome (megalencephaly, macrocephaly, polymicrogyria), with genetic testing revealing a mutation in the PIK3CA gene. At 13 months of age, the patient underwent ventriculoperitoneal shunt placement. Postoperatively, he developed central adrenal insufficiency, central hypothyroidism, and central diabetes insipidus, and treatment with hydrocortisone, levothyroxine, and desmopressin was initiated. Six months later, due to Chiari type 1 malformation, a decompressive laminectomy at the A1 level was performed. At 20 months of age, the child presented with fever of central origin, and brain CT revealed the presence of subdural hygromas. The patient was treated with prednisolone. Laboratory findings demonstrated hyponatremia, mildly elevated urea, low urine specific gravity (SG = 1001), and natriuresis (urinary sodium = 49 mmol/L). The diagnosis pointed towards salt-wasting syndrome, and treatment included oral sodium supplementation and fludrocortisone.
Conclusions: Salt-wasting syndrome is an important cause of hyponatremia and clinical dehydration, particularly in the setting of structural and functional abnormalities of the central nervous system. It must be differentiated from syndrome of inappropriate antidiuretic hormone secretion (SIADH). The pathophysiology of salt-wasting syndrome involves both sympathetic nervous system dysfunction and the secretion of natriuretic peptides in response to brain pathology. The coexistence of salt-wasting syndrome with central diabetes insipidus is rarely reported in pediatric populations. Nevertheless, progressive central nervous system damage or repeated neurosurgical procedures are risk factors that warrant heightened vigilance by treating physicians.
Volume 110
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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