Hypernatremia in an Infant: A Case of Septo-Optic Dysplasia

Abstract

Untreated and rapid correction of neonatal hypernatremia leads to severe neurological complications. We describe the case of a six-week-old female who presented with failure to thrive, and further workup revealed hypernatremic dehydration. Initially, she did not respond to treatment to correct the hyperosmotic state. Treatment with desmopressin was then initiated to determine the cause of hypernatremia. Central diabetes insipidus was confirmed as the patient responded to desmopressin. Serum sodium levels then dropped significantly, and the patient had three seizures within 24 hours. Cerebral edema was ruled out through computed tomography (CT) and electroencephalogram. Following the diagnosis of central diabetes insipidus, anterior pituitary hormone levels were obtained and found to be decreased. An investigation into the possible cause of panhypopituitarism led to the final diagnosis of septo-optic dysplasia, including absent septum pellucidum, optic nerve hypoplasia, and panhypopituitarism.

Autoimmunity Related to Adipsic Hypernatremia and ROHHAD Syndrome

“…This disorder has a heterogeneous clinical etiology, but its main characteristic signs and symptoms are hypernatremia, hypotonic urine accompanied by a decrease in antidiuretic hormone, and lack of thirst [3]. In some cases, the hypothalamus and osmotic sensors are damaged, including an innate structural disorder (e.g., septo-optic hypoplasia), a tumor in the hypothalamichypophysis region, and inflammation (e.g., encephalitis due to CMV, HHV6, or COVID-19), as reported recently [4][5][6][7][8][9][10]. An etiology involving the autoimmune process, specifically related to anti-subfornical organ antibody (anti-SFO) and anti-Na x antibody, has also been reported [11,12].…”

“…Recent reports show that autoantibodies have been detected in both diseases, and autoimmunity is speculated as a new mechanism of pathogenesis. Adipsic hypernatremia is thought to be caused by such factors as a congenital lack of CVOs, tumors, abnormal blood flow, and damage due to immune responses [4][5][6][7][8][9][10][11][12]. The factors reported to be the cause of this disease are shown in Table 1.…”

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

“…Some of the diseases in the group of metabolic disorders as well as the cardiovascular and chromosomal disorders are known to have malformations related to the disease aetiology regardless of the presence of cholestasis. [76][77][78][79][80][81][82][83][84][85][86][87][88][89][90][91][92][93] The details can be seen in Table 2B and Table S5.…”