ESPE2024 Poster Category 3 Multisystem Endocrine Disorders (11 abstracts)
1Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children’s Hospital, Lahore, Pakistan. 2Department of Paediatric Endocrinology and Diabetes, University of Child Health Sciences, The Children’s Hospital, Lahore, Pakistan
Background: Diabetes insipidus (DI) represents a rare but critical condition in neonatology, particularly affecting extremely low birth weight (ELBW) and preterm infants. It arises from deficiencies in arginine vasopressin within the hypothalamic-neurohypophyseal system or defects in vasopressin receptors at the kidney level. Recognizing DI in neonates proves challenging due to subtle symptoms. Early diagnosis and prompt management of water and electrolyte imbalances are paramount for optimal outcomes. This case underscores the significance of considering DI in preterm very low birth weight (VLBW) neonates presenting with polyuria, as timely intervention can notably enhance neurodevelopmental trajectories.
Objective: This case report aims to underscore the diagnostic complexities and management challenges associated with neonatal diabetes insipidus, emphasizing the importance of early detection and intervention to mitigate mortality, morbidity, and developmental sequelae.
Case summary: A male twin born at 34 weeks experienced significant neonatal complications, including respiratory distress and sepsis. He later developed polyuria and dehydration, leading to a diagnosis of nephrogenic diabetes insipidus (NDI), confirmed by a desmopressin challenge test. After initial treatment, he was lost to follow-up but later presented with pyomeningitis and hydrocephalus. Neurosurgical intervention addressed the hydrocephalus, and treatment for NDI was resumed. Now, at 14 months, his sodium levels have stabilized with hydrochlorothiazide therapy. The patient continues to receive comprehensive multidisciplinary care to manage his complex medical needs effectively.
Desmopressin challenge test | |||
Day of Life | 14th DOL | ||
Desmopressin Dose (mcg) | 0.3 ug/kg | ||
Before desmopressin challenge | 1 hour after desmopressin | 4 hours after desmopressin | |
Weight (g) | 1200 | 1100 | 1000 |
Urine output (ml/hr) | 100 | 88 | 95 |
Blood Sodium Level (mEq/L) | 175 | 166 | 150 |
Blood Osmolarity (mOsm/kg) | 309 | 314 | 320 |
Urine Osmolarity (mOsm/kg) | 250 | 295 | 268 |
Weight | 1200 gm | 1100 gm | 1000g |
Interpretation: findings suggest a lack of response to desmopressin, consistent with nephrogenic diabetes insipidus (NDI). |
Conclusion: Neonatal diabetes insipidus (DI) poses diagnostic complexities in preterm infants, presenting with polyuria and dehydration. Congenital NDI, predominantly X-linked, necessitates fluid management and diuretics, while secondary NDI addresses underlying causes like drug toxicity or electrolyte imbalances. Despite challenges in preterm diagnosis and treatment, multidisciplinary care optimizes outcomes, highlighting the necessity for vigilant monitoring and comprehensive intervention.