Hypothalamic hamartoma and infantile spasms.
OBJECTIVE
A small number of patients with hypothalamic hamartoma (HH) present with infantile spasms (IS) as an initial or early seizure type. We describe the clinical features of IS associated with HH.


METHODS
Our series of patients with HH and epilepsy was reviewed to identify cases with a history of IS. The clinical features and neuroradiological findings in this study group were compared to a control group of patients with HH and refractory epilepsy, but without a history of IS.


RESULTS
We identified six patients with HH and a history of IS in this series (n = 122, 4.9%). Five of the six are male. Four of the six patients (67%) developed IS as their first seizure type. The mean age for onset of IS was 6.2 months (range 4-9 months). Results of electroencephalographic (EEG) study at the time of IS diagnosis showed hypsarrhythmia in two (33%). Five patients were treated with adrenocorticotropic hormone (ACTH), and four of the five (80%) responded with control of IS. However, these patients developed other seizure types, and were ultimately refractory to medical management. Aside from the IS, no significant differences in clinical and imaging features were determined between the study group and the control group.


CONCLUSIONS
HH should be included in the differential diagnosis for infants presenting with IS. These patients may have hypsarrhythmia on initial EEG, and may respond to ACTH treatment with improvement of IS. However, all became refractory with other seizure types, more commonly seen in HH patients. Focal pathologies associated with IS may be subcortical, as well as cortical, in nature. We have not identified any predictive features for the occurrence of IS in the HH population.
Kerrigan
John F
JF
Epilepsy Center and Division of Pediatric Neurology, Barrow Neurological Institute and Children's Health Center, St Joseph's Hospital and Medical Center, Phoenix, Arizona, USA. jkerrigan@chw.edu
Ng
Yu-tze
YT
Prenger
Erin
E
Krishnamoorthy
Kalpathy S
KS
Wang
Norman C
NC
Rekate
Harold L
HL
D000293:Adolescent; D000324:Adrenocorticotropic Hormone / Q000627:therapeutic use; D000328:Adult; D017668:Age of Onset; D002648:Child; D002675:Child, Preschool; D003346:Corticotropin-Releasing Hormone / Q000502:physiology; D003937:Diagnosis, Differential; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis; D005260:Female; D006222:Hamartoma / Q000175:diagnosis* / Q000453:epidemiology; D006728:Hormones / Q000627:therapeutic use; D006801:Humans; D007029:Hypothalamic Neoplasms / Q000175:diagnosis* / Q000453:epidemiology; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D008959:Models, Neurological; D012737:Sex Factors; D013036:Spasms, Infantile / Q000175:diagnosis* / Q000188:drug therapy / Q000503:physiopathology; D016896:Treatment Outcome
D006728:Hormones; D000324:Adrenocorticotropic Hormone; D003346:Corticotropin-Releasing Hormone