Sessile Hypothalamic Hamartoma Research Articles

Hypothalamic hamartoma microsurgical resection using transcallosal transforaminal approach

Transcallosal transseptal interforniceal approach is recognized as the most appropriate route to resect sessile hypothalamic hamartomas but individuals with obliterated cavum septi pellucidi may pose difficulties to access these lesions safely. Six patients aged 8-34 years (med - 15.5) with the rather small (medial volume - 1.2 cm3) and in all but one cases the Delalande-Type II intraventricular sessile hamartomas and intractable epilepsy underwent surgery. The last patient had a rather larger lesion (Type III) encroaching both hypothalami and infundibulum. Cavum septi could not be distinguished on preop MRI in all cases. Lesions were removed via transcallosal transforaminal route using CUSA and foraminal walls dynamic retraction. In 4 cases the ipsilateral anterior septal vein was divided to expand the orifice of Monro foramen facilitating illumination and dissection. Early postop course was uneventful in all cases. Total or near total lesion removal was revealed on post-surgery images in cases with Type II hamartomas. No one of patients with ligated septal veins exhibited any signs of venous infarcts. Median known FU is 3 years (14 months - 5 years). Three patients were free of every seizure at the last check (50%). Two other patients nevertheless persisting mild recent memory deficit, were able to live independently and reported rare non-disabling events. AE-medication was discontinued in 2 patients, in other three cases it was tapered and simplified. In a subset of carefully selected patients with rather small Delalande-Type II sessile hypothalamic hamartomas in case of obliterated Cavum Septi Pellucidum the transcallosal transforaminal approach may be attempted in alternative to conventionally used transseptal interforniceal route with similar outcome and acceptable morbidity.

Is surgery effective for treating hypothalamic hamartoma causing isolated central precocious puberty? A systematic review.

The aim of this review was to determine the role of surgery in treating hypothalamic hamartoma (HH) causing isolated central precocious puberty (CPP). Literature review was done according to Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. Patients with isolated CPP due to HH, managed with surgical resection, were included. We found 33 studies, reporting 103 patients (76 pedunculated, 27 sessile). Patients were considered "cured" if the symptoms of PP had regressed and the hormone profile had normalized after surgery. Indications for surgery included hamartoma deemed surgically resectable (n-12), for the purpose of tissue diagnosis (n-3), partial response/failure of preoperative therapy (n-9), and unable to afford/to avoid long-term medical therapy (n-7). The extent of resection was total (TR) (n-39), near total/subtotal (NTR/STR) (n-20), partial (PR) (n-35), or unspecified (n-9). On follow-up (range: 3 months-16 years), 73.6% (56/76) of patients with pedunculated HH were cured, while 17.1% (13/76) had partial relief. Only 3/27 (11.1%) of patients with sessile HH were cured. All patients with a pedunculated hamartoma who underwent TR (n=36) improved, with 88.88% cured of the symptoms. Surgery had no effect in 17/23 (73.9%) patients with sessile HH who underwent PR. Psychological symptoms improved in 10/11 patients. There was no mortality. Permanent complications, in the form of 3rd nerve palsy, occurred in 3.7% (2/54) of the patients. To conclude, in the current era of availability of GnRH analogs, surgical resection in a subset of patients may be acceptable especially for small pedunculated hamartomas.

Episodes of prolonged "trance-like state" in an infant with hypothalamic hamartoma.

Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state."

Cognitive and neurological sequelae after stereoendoscopic disconnection of a hypothalamic hamartoma. A case study

Hypothalamic hamartomas (HH) are congenital malformations of the hypothalamus, often generating medically refractory gelastic seizures. There is great risk of progression to various complex partial and generalized seizures and of cognitive and behavioral deterioration. Hence, various surgical approaches have been introduced to resect or disconnect the HH from surrounding tissue, and stereoendoscopic disconnection has been advocated as one of the most lenient approaches to sessile HH embedded in the third ventricle. In fact, no long-term neurological or cognitive impairments have hitherto been reported after this procedure. Yet, unforeseen complications may arise in any surgical intervention on this region. We found serious deterioration of memory and reading skills by comprehensive neuropsychological assessments pre- and postoperatively in a child who, before surgery, was age-appropriate with respect to cognitive, emotional, and behavioral development. The child also contracted a permanent oculomotor paresis. Our results are discussed in light of previous relevant findings.

Surgical Management of Hypothalamic Hamartomas with Epilepsy: the Stereoendoscopic Approach

Hypothalamic hamartomas (HHs) require surgical treatment in patients presenting with refractory epilepsy. The authors report on a single-center series of 33 patients (24 males, 9 females) who underwent surgery between January 1997 and April 2004. They experienced several types of seizure (gelastic, tonic, partial, atonic, generalized tonic-clonic, dacrystic, infantile spasm, mental retardation, and behavioral and endocrinological abnormalities). Forty-nine interventions were carried out. Every patient, with the exception of the first, underwent hamartoma disconnection (pterional approach, six patients; endoscopy, 15 patients; both, 11 patients). The endoscopic approach was carried out with a frameless stereotactic system to enhance feasibility and efficacy of the disconnecting procedure. Surgery-related neurological complications occurred in two patients, both after a pterional microsurgical approach. Furthermore, two patients experienced panhypopituitarism and one patient experienced transitory central insipid diabetes. All patients but one showed recovery or considerable improvement of their epilepsy (Engel Class 1, 48.5%; Engel Class 2, 3%; Engel Class 3, 45.5%; mean follow-up duration, 1 yr 7 mo). According to the proposed classification of sessile HH into four types, the best candidates for endoscopic disconnection are Type 2 and Type 3 HHs. In the present series, 90% of patients affected by Type 2 HH became seizure free and the remaining 10% improved; of those with Type 3 HH at presentation, 35.3% recovered and 60% improved. Neuropsychological and endocrinological test results showed improvement in many patients. Data from our series demonstrate that frameless stereotactic endoscopic disconnection should be considered as the treatment of choice in the presence of favorable anatomic conditions.

Endoscopic surgery for hypothalamic hamartomas causing medically refractory gelastic epilepsy

There is increasing evidence that removal or disconnection of hypothalamic hamartomas can lead to seizure control and improvement in behavior. The purpose of this study is to report our experiences with endoscopic removal of these hamartomas. This is a prospective review of the early outcome of 44 patients undergoing endoscopic resection utilizing frameless stereotaxis and a micromanipulator. All patients had normal-sized ventricles. Complete removal was possible in 14 patients, 13 of whom were seizure free at follow-up. Four patients suffered complications that have persisted for more than 3 months: One had significant hemiparesis and three had persistent difficulties with short-term memory. Postoperatively, no patient suffered a permanent hormonal deficiency. In one patient who had undergone a previous attempt at transcallosal resection, the procedure was abandoned because of the lack of internal anatomic landmarks. In a second patient, insufficient mass could be removed due to the size of the lesion and the distorted anatomy. Consequently, 1 week later, the patient underwent a transcallosal approach. In appropriately selected patients, sessile hypothalamic hamartomas can be removed completely or they can be completely disconnected from the hypothalamus with an acceptable risk. At least a year after surgery is needed to evaluate the efficacy of the procedure in terms of control of seizures and improvements in behavior and emotional ability.

Surgical strategies for approaching hypothalamic hamartomas causing gelastic seizures in the pediatric population: transventricular compared with skull base approaches

The authors provide evidence that direct resection of hypothalamic hamartomas (HHs) can improve associated gelastic and nongelastic seizures. Ten children younger than 17 years of age underwent resection of HHs (nine sessile and one pedunculated) that were causing refractory epilepsy. Lesions were approached from above transventricularly through a transcallosal anterior interforniceal approach in six cases, endoscopically through the foramen of Monro in one, and from below with a frontotemporal craniotomy including an orbitozygomatic osteotomy in three. Medical charts were reviewed retrospectively, and follow-up data were obtained through office records and phone calls. Follow-up periods ranged between 12 and 84 months (mean 16.8 months). All patients in whom the approach was from above had sessile HHs. Five were free from seizures at follow up and two had a reduction in seizures of at least 95%. The transventricular route allowed excellent exposure and visualization of the local structures during resection. Among the three patients in whom the approach was from below, one became free of seizure after two procedures and one had a 75% reduction in epilepsy; the latter two had sessile HHs. The exposure was inadequate, and critical tissue borders were not readily apparent. Although the HH was adequately exposed and resected, the epilepsy persisted in the third patient, who had a pedunculated lesion. The overall rate of major permanent hypothalamic complications appeared to be slightly lower for the orbitozygomatic osteotomy group. Sessile lesions are best approached from above. Approaches from below adequately expose pedunculated hamartomas. The likelihood of curing seizures seems to be higher when lesions are approached from above rather than from below.

Clinical Neurophysiology: EEG–Video Monitoring

Clinical Neurophysiology: EEG–Video Monitoring

Open Radiofrequency Ablation for the Management of Intractable Epilepsy Associated with Sessile Hypothalamic Hamartoma

Sessile hypothalamic hamartoma (HH) often causes intractable epilepsy, which is difficult to control even by microsurgical resection and gamma knife surgery (GKS), especially when the hamartoma is intrahypothalamic, large, or irregularly shaped. We successfully applied radiofrequency ablation (RFA) to reduce its epileptogenicity and to disconnect seizure propagation. The patient was a 26-year-old man who presented with refractory epilepsy and severe mental retardation from age 6 months. He had undergone three surgeries yielding partial resection and conventional irradiation treatments. The residual HH was thin and shaped like a bent plate, attached widely to the floor of the third ventricle. He underwent open RFA via the transcallosal sub-choroidal approach under strict image guidance, which resulted in immediate and remarkable seizure remission without complications. This suggests that open RFA is a minimally invasive technique for an irregularly shaped HH that is difficult to treat by other modalities.

The clinical spectrum and natural history of gelastic epilepsy-hypothalamic hamartoma syndrome

To delineate the clinical spectrum and patterns of evolution of epilepsy with gelastic seizures related to hypothalamic hamartoma (HH). We evaluated patients with HH, observed between 1986 and 2002 for whom at least one ictal video-EEG or EEG recording of gelastic seizures was available. Six subjects (four male, two female) with sessile HH between 0.8 and 1.7 cm in diameter were identified. The onset of gelastic seizures was between 2 months and 20 years. It evolved to secondary generalized epilepsy in one case, and to drug-resistant partial epilepsy in the other five from 2 to 13 years after onset. No patient showed precocious puberty. Severe cognitive impairment developed in the patient with secondary generalized epilepsy, and a mild cognitive defect in two others. Patients with an HH below 1cm did not show neuropsychological or behavioural disturbances. Drug resistance occurred in all cases. Surgical removal of HH markedly improved the clinical evolution in two patients. Gelastic epilepsy-HH syndrome can differ in severity and evolution. A catastrophic evolution and drug resistance can be reversed by surgical or by gamma-knife ablation of HH.

759 Options for the Management of Patients with Hypothalamic Hamartoma and Intractable Epilepsy

INTRODUCTION: Hypothalamic hamartomas are rare congenital masses in the hypothalamus that often present with intractable epilepsy and behavioral disturbances. Recently, several different approaches to the management of these lesions have been advocated. The purpose of this study is to analyze the various methods that have been shown to lead to seizure control. METHODS: The report reviews the course of 38 patients with intractable seizures and hypothalamic hamartomas treated over an 18-month period. Data were collected prospectively in our database for the purpose of a study of outcome. Two patients underwent an extended pterional approach. Two patients underwent gamma knife treatment; 25 underwent a transcallosal interforniceal approach; and 9 underwent endoscopic removal through the foramen of Monro. One patient underwent two procedures. RESULTS: Pedunculated masses that are not in the third ventricle are not candidates for transventricular approaches. Twenty-one of 25 patients undergoing transcallosal interforniceal approaches and 6 of 9 endoscopically resected patients are seizure free. Only one patient in each group has not had dramatic improvement in seizure control and quality of life. The two patients treated with gamma knife are too recent to judge effectiveness. CONCLUSION: Both transcallosal interforniceal and endoscopic resection of sessile hypothalamic hamartomas are feasible, with marked improvement in outcome and low morbidity. Endoscopic removal seems to be as effective, with lower immediate morbidity, and is now our treatment of choice in all but very large masses in small children.

Small hypothalamic hamartomas and gelastic seizures

ABSTRACT Purpose To describe the clinical history of patients with gelastic seizures (GSs) related to small‐size hypothalamic hamartomas (HHs), and to show some of these unusual seizures. Material and methods Patients with GSs and the MRI finding of HH < 1 cm diameter. Ictal EEG or video EEG are required. Results Three patients, among 6 with GSs and HH, had a small sessile HH. None of them had a history of precocious puberty, nor any relevant cognitive defects. All patients suffered from other seizure types, in addition to GSs. GSs were drug‐resistant in all cases. Conclusion since small, not easily recognizable HHs may be present in patients with GSs, a careful MRI study of the hypothalamic, infundibular and mammillary bodys areas is mandatory in these cases [published with videosequences].

Hypothalamic Hamartoma: Comparison of Clinical Presentation and Magnetic Resonance Images

Background/Aims: Hypothalamic hamartoma (HH) is one of the most frequent causes of organic central precocious puberty (CPP). We compared the clinical presentation and the magnetic resonance images (MRI) of 19 patients with HH aged 5.7 ± 4.1 (SD) years at the first endocrine evaluation. They had isolated CPP (group 1, n = 9), CPP plus gelastic seizures (group 2, n = 5), isolated seizures (group 3, n = 4), and 1 patient was asymptomatic. Methods/Results: All patients without neurological symptoms (group 1 and the asymptomatic patient) had pedunculated lesion (diameter 6.4 ± 3.6 (3–15) mm), suspended from the floor of the third ventricle. All patients with neurological symptoms (groups 2 and 3) had sessile lesion (diameter 18.3 ± 9.6 (10–38) mm, p = 0.0005 compared to the others), located in the interpeduncular cistern with extension to the hypothalamus. Seven patients were overweight. The growth hormone peak, free thyroxine, cortisol and prolactin concentrations, and the concomitant plasma and urinary osmolalities were normal in all the cases evaluated. The mean predicted or adult heights of 10 patients treated 5.2 ± 3.3 years for CPP with gonadotropin hormone releasing hormone (GnRH) analog were –0.3 ± 1.7 SD, similar to their target height –0.1 ± 0.9 SD. Conclusion: The clinical presentation of HH depends on its anatomy: small and pedunculated HH are associated with CPP, while large and sessile HH are associated with seizures. The hypothalamic-pituitary function in these cases is normal, which suggests that the absence of CPP is not due to gonadotropin deficiency. GnRH analog treatment preserves the growth potential in those with CPP.

Gamma Knife Surgery for Epilepsy Related to Hypothalamic Hamartomas

Drug-resistant epilepsy associated with hypothalamic hamartomas (HHs) can be cured by microsurgical resection of the lesions. Morbidity and mortality rates for microsurgery in this area are significant. Gamma knife surgery (GKS) is less invasive and seems to be well adapted for this indication. To evaluate the safety and efficacy of GKS to treat this uncommon pathological condition, we organized a multicenter retrospective study. Ten patients were treated in seven different centers. The follow-up periods were more than 12 months for eight patients, with a median follow-up period of 28 months (mean, 35 mo; range, 12–71 mo). All patients had severe drug-resistant epilepsy, including frequent gelastic and generalized tonic or tonicoclonic attacks. The median age was 13.5 years (range, 1–32 yr; mean, 14 yr) at the time of GKS. Three patients experienced precocious puberty. All patients had sessile HHs. The median marginal dose was 15.25 Gy (range, 12–20 Gy). Two patients were treated two times (at 19 and 49 mo) because of insufficient efficacy. All patients exhibited improvement. Four patients were seizure-free, one experienced rare nocturnal seizures, one experienced some rare partial seizures but no more generalized attacks, and two exhibited only improvement, with reductions in the frequency of seizures but persistence of some rare generalized seizures. Two patients, now seizure-free, were considered to exhibit insufficient improvement after the first GKS procedure and were treated a second time. A clear correlation between efficacy and dose was observed in this series. The marginal dose was more than 17 Gy for all patients in the successful group and less than 13 Gy for all patients in the “improved” group. No side effects were reported, except for poikilothermia in one patient. Behavior was clearly improved for two patients (with only slight improvements in their epilepsy). Complete coverage of the HHs did not seem to be mandatory, because the dosimetry spared a significant part of the lesions for two patients in the successful group. We report the first series demonstrating that GKS can be a safe and effective treatment for epilepsy related to HHs. We advocate marginal doses greater than or equal to 17 Gy and partial dose-planning when necessary, for avoidance of critical surrounding structures.

Gamma Knife Surgery for Epilepsy Related to Hypothalamic Hamartomas

ABSTRACT OBJECTIVE Drug-resistant epilepsy associated with hypothalamic hamartomas (HHs) can be cured by microsurgical resection of the lesions. Morbidity and mortality rates for microsurgery in this area are significant. Gamma knife surgery (GKS) is less invasive and seems to be well adapted for this indication. METHODS To evaluate the safety and efficacy of GKS to treat this uncommon pathological condition, we organized a multicenter retrospective study. Ten patients were treated in seven different centers. The follow-up periods were more than 12 months for eight patients, with a median follow-up period of 28 months (mean, 35 mo; range, 12–71 mo). All patients had severe drug-resistant epilepsy, including frequent gelastic and generalized tonic or tonicoclonic attacks. The median age was 13.5 years (range, 1–32 yr; mean, 14 yr) at the time of GKS. Three patients experienced precocious puberty. All patients had sessile HHs. The median marginal dose was 15.25 Gy (range, 12–20 Gy). Two patients were treated two times (at 19 and 49 mo) because of insufficient efficacy. RESULTS All patients exhibited improvement. Four patients were seizure-free, one experienced rare nocturnal seizures, one experienced some rare partial seizures but no more generalized attacks, and two exhibited only improvement, with reductions in the frequency of seizures but persistence of some rare generalized seizures. Two patients, now seizure-free, were considered to exhibit insufficient improvement after the first GKS procedure and were treated a second time. A clear correlation between efficacy and dose was observed in this series. The marginal dose was more than 17 Gy for all patients in the successful group and less than 13 Gy for all patients in the “improved” group. No side effects were reported, except for poikilothermia in one patient. Behavior was clearly improved for two patients (with only slight improvements in their epilepsy). Complete coverage of the HHs did not seem to be mandatory, because the dosimetry spared a significant part of the lesions for two patients in the successful group. CONCLUSION We report the first series demonstrating that GKS can be a safe and effective treatment for epilepsy related to HHs. We advocate marginal doses greater than or equal to 17 Gy and partial dose-planning when necessary, for avoidance of critical surrounding structures.