Abstracts

Rationale: Infantile spasms (IS) is both a specific seizure type and can be associated with certain syndromes, such as DEND Syndrome (developmental delay, epilepsy, and neonatal diabetes) and West Syndrome (IS, hypsarrhythmia on electroencephalogram, and neurodevelopmental regression). IS is characterized by a brief, symmetric axial muscle contraction, with peak onset between 3 and 7 months of age.^1,2 The incidence is 1 per 2,000-4,000 live births.¹ It is thought that the hypothalamus-pituitary-adrenal axis plays a role in the pathophysiology of IS; therefore, ACTH is often considered first line treatment. There is a reported 50% mortality by 10 years of age.² Methods: Case Report  Results: A 17-month old male infant presented to the emergency room with increased frequency of seizures after immigrating from Sudan to the United States 1 week prior. He was born full term to consanguineous parents and had genetic analysis, which revealed a KCNJ 11 mutation. He had a hypoglycemic seizure due to hyperinsulinemia at 2 days of life, secondary to a pancreatic tumor requiring a near total pancreatectomy. In addition to intermittent hypoglycemia, he was also diagnosed with global developmental delay.Upon admission to the hospital in the U.S., an EEG and MRI were performed (Figures 1 and 2, respectively) which confirmed the diagnosis of IS. Given the patient’s history of hypoglycemic hyperinsulinemia first line treatment of corticotropin could not be considered as such his seizures were managed with Vigabatrin and a ketogenic diet.Figure 1: EEG showing hypsarrhythmia with the classic disorganized background Figure 2: Brain MRI revealing focal zones of encephalomalacia in the bilateral parietal and occipital lobes Conclusions: The Potassium Voltage-Gated Channel Subfamily (KCNJ11) gene is located on the short (p) arm of chromosome 11. Four of the eight ATP-sensitive potassium (K-ATP) channel subunits are produced from the KCNJ11 gene. These channels are in the beta cells of the pancreas; therefore, mutations of the KCNJ11 gene result in a constant release of insulin³, causing persistent hypoglycemia. KCNJ11 is also expressed in muscle, neuronal, and brain tissue. DEND Syndrome has been proposed to quantify the specific sequelae caused by KCNJ11 mutation that affects functioning of the K-ATP cells in multiple tissues⁴. Infantile spasms (IS) is often the specific seizure type described⁵. Specifically white matter hyperintensities have been seen on brain magnetic resonance imaging (MRI) of these patients⁶. Suffering from a rare KCNJ11 gene mutation, our patient experienced a complicated treatment course due to relative unfamiliarity with his constellation of symptoms. This case exemplifies the importance of clinicians being familiar with the syndromes associated with infantile spasms, as prompt diagnosis is crucial for appropriate management. References¹Taghdiri MM, Nemati H. Infantile spasm: a review article. Iran Journal of Neurology. 2014;8(3):1-5.²Wong M, Trevathan E. Infantile spasms. Pediatric Neurology. 2000;24(2):89-98.³KCNJ11 gene. Genetics Home Reference. https://ghr.nlm.nih.gov/gene/KCNJ11#conditions. Published May 22, 2018.⁴Gloyn AL, Diatloff-Zito C, Edghill EL, et al. J11 activating mutations are associated with developmental delay, epilepsy and neonatal diabetes syndrome. European Journal of Human Genetics. 2006;14:824-830. www.nature.com/ejhg. Accessed. May 1, 2018.⁵Paciorkowski AR, Thio LL, Dobyns WB. A genetic and biologic classification of IS. Pediatric Neurology. 2011;45(6):355-367.⁶Beltrand J, Elie C, Busiah K, et al. Sulfonylurea therapy benefits neurological and psychomotor functions in patients with neonatal diabetes. Diabetes Care. 2015;38:2033-2041. doi:10.2337/dc15-0837. Funding: No funding was received.