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Neurology
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Patient Care
Abstract
Background: Infantile spasms are an age-related epileptic disorder occurring in infancy or early childhood and are common in children with Down Syndrome. They have been associated with developmental delay, and thus rapid treatment of the disorder has been emphasized. First line treatments include a high dose prednisolone taper or adrenocorticotropic hormone (ACTH), of which, neither has been shown to be more efficacious in recent studies. Other less effective options include vigabatrin or high-dose pyridoxine.
Case Presentation: Our patient is a 1-year old female with Down Syndrome, who presented with concern for infantile spasms, occurring from 4-10 months of age. Episodes lasted a few seconds, and consisted of brief head drops with arm extension. At the initial presentation, episode frequency was reported every couple hours and progressively worsened to every 2-5 minutes. Episodes lasted a few seconds and occurred in clusters of up to 5-10 at a time. They were more frequently noted during sleep-wake transition cycles. Parents stated that the patient had stalled in development since the onset of symptoms at 4 months of age. At 10 months of age, the patient had an upper respiratory infection, for which she was treated with prednisone ~1 mg/kg/day [~3 mL (9 mg)] once daily for 3 days. After treatment, parents stated that her spasms halted and did not recur. An EEG at one month after treatment (8 months after symptom onset) was unremarkable. MRI of the brain without contrast was unremarkable, except for an incidental retrocerebellar cystic structure with cisterna magna. The patient had no other seizure types that were noted by parents. Since receiving steroids, she had started making progress in her development, and was performing at the developmental level of a 3 month old at the time of her visit. One limitation of this case is that EEG confirmation of spasms was not possible given the resolution prior to our evaluation. However, video documentation and history is very much consistent with infantile spasms.
Conclusion: High-dose prednisolone (4 mg/kg/day) taper over 4 weeks has been shown to result in a significantly lower rate of spasms or complete resolution in comparison to low-doses. This case highlights that lower-dose and reduced duration of treatment with prednisolone may be effective in treating infantile spasms in Down Syndrome patients, who are known to respond more favorably to treatment. Lower dose and lower duration of treatment may be favorable to patients given the high adverse side effect profile of glucocorticoids, which include weight gain, growth failure, and behavioral changes/irritability. While children with Down Syndrome are known to be quite responsive to treatment for infantile spasms, long-term follow up has noted that a large percentage of patients relapse, even after initial complete resolution of symptoms. Thus, it might be interesting to compare the long term response in this patient who had complete resolution of spasms after low-dose prednisone treatment.
Presentation Type
Poster
Recommended Citation
Cortez, Briana Noel; Cavazos, Christopher; Carrillo, Aaron; and Woodliff, Brianna, "Rapid Response: Infantile Spasms and Low-Dose Prednisolone in a Young Child with Down Syndrome" (2024). Research Colloquium. 36.
https://scholarworks.utrgv.edu/colloquium/2024/posters/36
Included in
Rapid Response: Infantile Spasms and Low-Dose Prednisolone in a Young Child with Down Syndrome
Background: Infantile spasms are an age-related epileptic disorder occurring in infancy or early childhood and are common in children with Down Syndrome. They have been associated with developmental delay, and thus rapid treatment of the disorder has been emphasized. First line treatments include a high dose prednisolone taper or adrenocorticotropic hormone (ACTH), of which, neither has been shown to be more efficacious in recent studies. Other less effective options include vigabatrin or high-dose pyridoxine.
Case Presentation: Our patient is a 1-year old female with Down Syndrome, who presented with concern for infantile spasms, occurring from 4-10 months of age. Episodes lasted a few seconds, and consisted of brief head drops with arm extension. At the initial presentation, episode frequency was reported every couple hours and progressively worsened to every 2-5 minutes. Episodes lasted a few seconds and occurred in clusters of up to 5-10 at a time. They were more frequently noted during sleep-wake transition cycles. Parents stated that the patient had stalled in development since the onset of symptoms at 4 months of age. At 10 months of age, the patient had an upper respiratory infection, for which she was treated with prednisone ~1 mg/kg/day [~3 mL (9 mg)] once daily for 3 days. After treatment, parents stated that her spasms halted and did not recur. An EEG at one month after treatment (8 months after symptom onset) was unremarkable. MRI of the brain without contrast was unremarkable, except for an incidental retrocerebellar cystic structure with cisterna magna. The patient had no other seizure types that were noted by parents. Since receiving steroids, she had started making progress in her development, and was performing at the developmental level of a 3 month old at the time of her visit. One limitation of this case is that EEG confirmation of spasms was not possible given the resolution prior to our evaluation. However, video documentation and history is very much consistent with infantile spasms.
Conclusion: High-dose prednisolone (4 mg/kg/day) taper over 4 weeks has been shown to result in a significantly lower rate of spasms or complete resolution in comparison to low-doses. This case highlights that lower-dose and reduced duration of treatment with prednisolone may be effective in treating infantile spasms in Down Syndrome patients, who are known to respond more favorably to treatment. Lower dose and lower duration of treatment may be favorable to patients given the high adverse side effect profile of glucocorticoids, which include weight gain, growth failure, and behavioral changes/irritability. While children with Down Syndrome are known to be quite responsive to treatment for infantile spasms, long-term follow up has noted that a large percentage of patients relapse, even after initial complete resolution of symptoms. Thus, it might be interesting to compare the long term response in this patient who had complete resolution of spasms after low-dose prednisone treatment.