Case Report DOI: 10.18231/2455-6793.2017.0011 International Journal of Medical Pediatrics and Oncology, January-March, 2017:3(1):40-41 40 Congenital nephrogenic diabetes insipidus with basal ganglia calcifications - A case report Uma Raju 1,* , A. Garg 2 1 HOD, NICE Hospital, Hyderabad, 2 Associate Professor, Dept. of Paediatrics, Air Force Hospital, Kanpur *Corresponding Author: Email: majgenumaraju@gmail.com Abstract A male toddler aged 33 months presented with recurrent episodes of fever, polyuria, polydipsia, dehydration, excessive cry, seizures and failure to thrive since early infancy. Developmental milestones were normal. Clinical examination was essentially normal except for malnutrition (IAP Grade 2). Investigations revealed water deprivation test positive for Nephrogenic Diabetes Insipidus. Serum ADH level was raised at 20.76 pmol/l (N -0.00-13.00 pmol/l). Renal function tests and other biochemical parameters were normal except for persistent hypernatremia ((155-168mEq/L). Ultrasound abdomen did not reveal any abnormality. Computed tomography of the head showed bilateral basal ganglia calcification. He was treated with hydrochlorothiazide (2.0 mg/kg/d) and amiloride (0.2mg/kg/d) along with a salt and protein restricted diet. Following treatment there was a marked improvement in his condition as evidenced by reduction of polyuria by 40%, normalizing of serum sodium state and a steady weight gain of 2.0kg over a period of six months. This child had a pathognomic presentation of Congenital Nephrogenic Diabetes Insipidus but the condition escaped detection due to a multitude of common symptoms as well as seizures. We therefore report a rare entity of a CNDI with bilateral basal ganglia calcifications. Keywords: Polyuria, Polydipsia, Seizures, Basal Ganglia Calcification, Nephrogenic Diabetes Insipidus Introduction Congenital Nephrogenic Diabetes Insipidus (CNDI) is a hypotonic polyuric state which manifests in the neonatal period but is usually detected later. Resulting from renal insensitivity to arginine vasopressin (AVP), it is a rare disorder with common symptomatology making it an often missed condition. (1) We report a rare entity of a case of CNDI which was associated with seizures and bilateral basal ganglia calcifications. Case Report A male child aged 33 months, the product of a non consanguineous marriage was hospitalised with history of recurrent episodes of fever, dehydration, excessive cry and seizures since early infancy. He presented with fever, polyuria (urine output >4000ml/day), polydipsia (water intake>5000ml/day), poor feeding, dehydration and failure to thrive. The perinatal period, family history and developmental milestones were normal. The child was alert, pyrexic (99.5-101 0 F) and dehydrated. His height was below 3 rd percentile and he had malnutrition (IAP Grade 2). Systemic examination revealed a normal cardiovascular and respiratory examination. There was no neurological deficit and abdominal examination did not reveal any organomegaly. Investigations revealed water deprivation test positive for Nephrogenic Diabetes Insipidus. Serum ADH level was raised at 20.76 pmol/l (N -0.00-13.00 pmol/l). Renal function tests and other biochemical parameters were normal except for persistently raised serum sodium levels (155-168mEq/L). Ultrasound abdomen was normal. Computed tomography of the head showed bilateral basal ganglia calcifications (Fig. 1). In view of clinical features of polyuria, polydipsia, dehydration, persistent hypernatremia, positive water deprivation test and raised serum ADH levels, symptomatic since infancy, a diagnosis of CNDI was made. Fig. 1: NCCT Brain He was started on therapy with hydrochlorothiazide (2.0 mg/kg/d), amiloride (0.2mg/kg/d) and a salt and protein restricted diet. He showed marked improvement as evidenced by reduction of polyuria by 40%, normalizing of serum sodium state and a steady weight gain of 2.0kg over a period of six months.