Authors :
Presenting Author: Zainab Zaman, MD – Boston Children's Hospital
Jeffrey Bolton, MD – Attending, Epilepsy, Boston Children's Hospital; Christina BriscoeAbath, MD – Resident/Fellow, Neurology, Boston Children's Hospital; Madeline Chiujdea, BA – Neurology – Boston Children's Hospital; Chellamani Harini, MD – Attending, Epilepsy, Boston Children's Hospital; Mary Heins, BA – Boston Children's Hospital; Rachel Hirschberger, MD – Fellow, Epilepsy, Boston Children's Hospital; Natalie Mann, BA – Neuroscience QI Data Analyst, Neurology, Boston Children's Hospital; Candice Marti, BA – Boston Children's Hospital; Sanjay Prabhu, MD – Attending, Radiology, Boston Children's Hospital; Lance Rodan, MD, FRCP – Attending, Genetics, Neurology, Boston Children's Hospital; Alexandra Santana, MD – Resident/Fellow, Neurology, Boston Children's Hospital; Christopher Yuskaitis, MD, PhD – Attending, Epilepsy, Boston Children's Hospital
Rationale:
Majority of patients with Infantile epilepsy including children with a new onset IESS (Infantile epileptic Spasms syndrome) have an identified etiology. Data from National Infantile Spasms consortium showed that clinical evaluation and MRI led to a specific diagnosis in 55% of children presenting with IESS. Our initial diagnostic algorithm had suggested the use of MRI/MRS for those children with new onset IESS where there was no clear cause identified based on history and clinical evaluation. As a part of work-up of children with IESS, brain MRI has a level A evidence (wilmshurst et al 2015) while the utility of MRS is unclear. MRS complements the information provided by conventional MRI and pathognomonic MRS findings can be seen in some inherited metabolic disorders such as Nonketotic Hyperglycinemia, Maple Syrup Urine Disease, and Cerebral Creatine Deficiency syndromes, which can be associated with IESS. In this study we aimed to look at the value of MR spectroscopy in new onset IESS without a diagnosis after initial clinical evaluation.
Methods:
This is a retrospective cohort study of consecutive infants with new onset IESS diagnosed from Jan 2015 to May 2023 using BCH 360 search engine. Our inclusion criteria: children with new onset IESS (one to 24 months of age) and obtained MRI/MRS as a part of diagnostic work-up. Exclusion criteria: children with identified etiology prior to onset of IESS and children seen once for a second opinion. Data gathered included patient demographics, age at IESS onset, timing/results of the MRI/MRS, etiology, test identifying the etiology and if MRS aided in diagnosis. MRI abnormalities and MRS abnormalities were noted. Data were analyzed included descriptive statistics.
Results: Our search identified 162 patients with new onset IESS who had MRI. Of these, 68 patients had MRS. Age at IESS onset was at a median of 5.5 months (IQR: 3-8 months). Of the 68 patients with MRS results, one patient’s MRS result was unable to be read due to artifact. Of the remaining 67 patients, MRS was abnormal/equivocal in eight patients (12%). Reduction in NAA peak was seen in three patients, one patient had a lactate peak, two patients had glutamine/glutamate peak (both patients were on Vigabatrin). In these six patients, the MRS was non-diagnostic and did not aid in etiology identification. In two patients (diagnosed with non-ketotic hyperglycenemia), the initial MRS was reported to be normal. However, on re-review after the clinical information, glycine peaks were identified.
Conclusions:
MRS had very low diagnostic yield in our study. In fact, there were no patients in whom MRS aided in the initial diagnosis. Based on this information, we plan to eliminate MRS from our initial diagnostic algorithm.
Funding: None