Endocrine Abstracts

Introduction: Gelastic seizures have been typically described with hypothalamic hamartomas and precocious puberty. Invasive EEG recordings have shown that gelastic seizures originated from the hypothalamic hamartomas, however recent findings have shown that they might also arise from other central lesions, like tumors, malformations of cortical development, postinfectious foci and other hypotalamic or pituitary abnormalities. In this case, we describe a patient with gelastic seizures and a short stature, in whom pituitary stalk interruption syndrome was discovered.

Case presentation: We report the case of a 13-year-old patient, who presented with slowed growth and short stature. Parents described brief laughter attacks, apparently unmotivated, that was perceived as strange behavior by his family. Physical examination showed a height of 142 cm which was below the second percentile for chronological age, and weight was 50 kg which was normal for age. Bone age was at 12 years. EEG showed some rare focal frontal lobe discharges. Laboratory findings revealed hypopituitarism with a thyroid-stimulating hormone level of 2.7 mIU/l and free thyroxine at 7.8 pmol/l (normal range 11 to 18 pmol/l). Cortisol level was 196 and 188 nmol/l after ACTH stimulation test. The rest of the biological investigation was normal. The patient underwent Insulin-induced hypoglycemia test and Glucagon stimulation test. Both tests confirmed the diagnosis of growth hormone deficiency since the maximal level of GH was 0.65 mI/l. Combined pituitary hormone deficiency was therefore held. Imaging of the sellar region was conducted, showing the typical triad of pituitary stalk interruption syndrome with interrupted pituitary stalk, hypoplasia of the anterior pituitary and ectopic posterior pituitary. Patient was treated with lamotrigin, risperidone, hydrocortisone and levothyroxin, and received growth hormone replacement therapy with good statural evolution. Puberty was induced at the age of 19 with good response.

Conclusion: These findings suggest that gelastic seizures can be generated in the hypothalamus or in its neighboring regions. Patients who suffer from these seizures should be screened for central endocrine abnormalities including precocious puberty and hypopituitarism.