A seven-year-old girl presents with a several-month history of difficulty in school secondary to multiple outbursts of laughter at inappropriate times, interrupting classroom work, and causing distress. Her past medical and surgical history are unremarkable. She was delivered as a full term child, with no family history of known neurological disorders. No recent trauma was reported.
In the office, she is alert, with a normal neurological examination. On physical examination, she is noted to have axillary hair and pubic hair. Her height and weight are 50th percentile for her age.
As part of her evaluation, a brain MRI, with and without contrast is ordered, with a representative image presented here.
Coronal MRI with T1 weighted sequence and gadolinium administration demonstrating 1.5 cm hypothalamic hamartoma, with characteristic findings of hypothalamic location, lack of enhancement and identical imaging as adjacent brain tissue.
1. What is the most likely diagnosis?
2. The explanation for the inappropriate laughter is most likely:
3. Which of the following is the most appropriate treatment for these lesions?
4. Which of the following describes you?
5. I practice in one of the following locations.
- Berkovic SF, Arzimanoglou A, Kuzniecky R, Harvey AS, Palmini A, Andermann F. Hypothalamic hamartoma and seizures: A treatable epileptic encephalopathy. Epilepsia. 2003;44:969–73. [PubMed: 12823582]
- Polkey CE. Resective surgery for hypothalamic hamartoma. Epileptic Disord. 2003;5:281–6. [PubMed: 14975798]
- Addas B, Sherman EM, Hader WJ. Surgical management of hypothalamic hamartomas in patients with gelastic epilepsy. Neurosurg Focus. 2008;25:E8. [PubMed: 18759632]
- Craig DW, Itty A, Panganiban C, Szelinger S, Kruer M, Reiman D, Narayanan V, Stephan DA, Kerrigan JF. Identification of somatic chromosomal abnormalities in hypothalamic hamartoma tissue at the GLI3 locus. Am J Hum Genet 2008;82:366-374.
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