Hypothalamic Hamartoma in an 11-Year-Old Female: Clinical Presentation, Diagnostic Evaluation, and Management Strategies – A Case Report and Literature Review

Abstract

Background: Hypothalamic hamartomas (HH) are rare, benign brain tumors that can cause severe neurological symptoms, including epilepsy. This report presents a case of an 11-year-old female with HH, highlighting the clinical presentation, diagnostic workup, and management strategies.

Case Presentation: An 11-year-old female with no prior medical history presented with generalized tonic-clonic seizures during sleep, characterized by convulsions, cyanosis, tongue biting, frothing at the mouth, and loss of consciousness lasting 1-2 minutes. Subsequent episodes included focal Jacksonian seizures involving the face and right eye myoclonus, progressing to generalized convulsions. Neurological examination and development were normal, with no family history of epilepsy. MRI revealed a sessile lesion in the left hypothalamus with T2/FLAIR hyperintensity and T1 hypointensity. Laboratory tests, including thyroid function, gynecological ultrasound, and various blood tests, were normal. A 48-hour video EEG indicated sensorimotor cortex involvement in both hemispheres, likely linked to the hypothalamic lesion.

Management: Initial management involved observation without antiepileptic medications. Due to persistent seizures, the treatment plan included oxcarbazepine, titrated to 1200 mg/day, and Keppra (levetiracetam) 1000 mg/day. Efforts were made to discontinue Keppra and maintain monotherapy with oxcarbazepine. Given the small size of the lesion and effective seizure control with medication, surgical intervention was not pursued.

Conclusion: This case underscores the importance of comprehensive diagnostic evaluation and individualized treatment plans for patients with HH. While medical management can be effective for small lesions, surgical options reported in the literature provide alternative strategies for larger or treatment-resistant cases. A multidisciplinary approach is crucial in managing the complex presentation of HH to optimize patient outcomes and improve quality of life.