Hypothalamic Hamartomas

Abstract

This study presents six patients with hypothalamic hamartomas diagnosed on the basis of magnetic resonance imaging. Histological confirmation was performed in three patients who underwent surgery. Immunohistological assays were used to determine the neurosecretory pattern. Four patients presented with epilepsy, including gelastic seizures. Other symptoms included behavioral abnormalities in four patients and precocious puberty and visual impairment in two patients. One patient presented associated developmental defects. Good results without morbidity were achieved with surgical resectioning in two patients with large hamartomas associated with behavioral abnormalities and gelastic epilepsy that was unresponsive to conventional medical treatment and in one patient with visual impairment. We propose a classification of the hypothalamic hamartomas based on topographical and clinical data obtained from 36 selected cases in the literature and six of our own cases. This classification should help to classify the various treatment methods and the surgical risks into four subgroups (Types la, lb, lla, and llb). We conclude that the surgical approach is a realistic alternative in certain cases, including large and broad-based Type llb hamartomas associated with gelastic epilepsy and behavioral disorders.

Surgical Treatment of Hypothalamic Hamartoma and Refractory Seizures

“…The data from the few series that do give details on nonsurgical cases describe disappointing responses to all available antiepileptic drugs, with only rare patients becoming seizure free [1, 2, 11, 18]. Since repeated frequent seizures in early childhood may contribute to cognitive deterioration [19]which is often seen in patients with HH and GS, it follows that patients be managed with aggressive medical treatment with different antiepileptic drugs.…”

“…The commonest association is with hypothalamic hamartoma (HH), a nonneoplastic malformation rising between the mammillary body and the tuber cinereum [1, 2]. Other sites in the brain that are associated with GS are the frontal [3, 4, 5, 6, 7, 8, 9]and temporal regions [10].…”

“…Other sites in the brain that are associated with GS are the frontal [3, 4, 5, 6, 7, 8, 9]and temporal regions [10]. Children with HH and GS usually present with seizures early in life, often prior to 1 year of age [2, 11, 12]. There are usually other seizure types concomitant with GS, among them generalized tonic clonic, complex partial and drop attacks.…”

“…Laughter may be only a part of the specific seizure semiology [12, 13]. Other common symptomatology includes mental retardation (in about one-third of the children), behavioral abnormality (in about one third) and precocious puberty (in 20–60%) [1, 2, 12]. …”

Gonadotropin-Dependent Precocious Puberty: Neoplastic Causes and Endocrine Considerations

“…Hypothalamic hamartomas have a typical isointense radiographic appearance on MRI (Figure 4). They are classified as pedunculated or sessile, depending on the width of attachment to the tuber cinereum and their pattern of growth, namely intra- or extraparenchymal [91, 92]. These lesions are believed to cause precocious puberty (Figure 4) through endogenous pulsatile release of GnRH, either independently or in concert with the GnRH-secreting neurons of the hypothalamus [93].…”