RESUMEN
BACKGROUND: To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management. METHODS: A detailed retrospective chart review and literature search were performed using Pubmed and Embase. RESULTS: We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months. Stereoelectroencephalography exploration confirmed the onset in hypothalamic hamartoma with rapid propagation to the temporal-parietal-occipital association cortex and precuneus. The patient's epilepsy was cured with laser ablation of the hamartoma. CONCLUSION: Published literature mostly describes a more anterior frontal or temporal epileptic network with primarily gelastic seizures being the hallmark type of seizures associated with hypothalamic hamartoma. We highlight a rare posterior cortex network with an atypical presentation of focal nonmotor seizures with impaired awareness in the setting of a hypothalamic hamartoma. Stereotactic laser ablation of the hamartoma rendered seizure freedom. Early diagnosis and appropriate treatment can lead to seizure freedom.
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Hamartoma , Enfermedades Hipotalámicas , Convulsiones , Humanos , Hamartoma/complicaciones , Hamartoma/cirugía , Hamartoma/fisiopatología , Masculino , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/fisiopatología , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/diagnóstico por imagen , Preescolar , Convulsiones/etiología , Convulsiones/fisiopatología , Convulsiones/cirugía , Convulsiones/diagnóstico por imagen , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/fisiopatología , Corteza Cerebral/patología , Corteza Cerebral/cirugía , Electroencefalografía , Terapia por LáserRESUMEN
BACKGROUND AND OBJECTIVES: Gelastic seizures due to hypothalamic hamartomas (HH) are challenging to treat, in part due to an incomplete understanding of seizure propagation pathways. Although magnetic resonance imaging-guided laser interstitial thermal therapy (MRgLITT) is a promising intervention to disconnect HH from ictal propagation networks, the optimal site of ablation to achieve seizure freedom is not known. In this study, we investigated intraoperative post-ablation changes in resting-state functional connectivity to identify large-scale networks associated with successful disconnection of HH. METHODS: Children who underwent MRgLITT for HH at two institutions were consecutively recruited and followed for a minimum of one year. Seizure freedom was defined as Engel score of 1A at the last available follow-up. Immediate pre- and post- ablation resting-state functional MRI scans were acquired while maintaining a constant depth of general anesthetic. Multivariable generalized linear models were used to identify intraoperative changes in large-scale connectivity associated with seizure outcomes. RESULTS: Twelve patients underwent MRgLITT for HH, five of whom were seizure-free at their last follow-up. Intraprocedural changes in thalamocortical circuitry involving the anterior cingulate cortex were associated with seizure-freedom. Children who were seizure-free demonstrated an increase and decrease in connectivity to the pregenual and dorsal anterior cingulate cortices, respectively. In addition, children who became seizure-free demonstrated increased thalamic connectivity to the periaqueductal gray immediately following MRgLITT. DISCUSSION: Successful disconnection of HH is associated with intraoperative, large-scale changes in thalamocortical connectivity. These changes provide novel insights into the large-scale basis of gelastic seizures and may represent intraoperative biomarkers of treatment success.
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Hamartoma , Enfermedades Hipotalámicas , Terapia por Láser , Imagen por Resonancia Magnética , Tálamo , Humanos , Hamartoma/cirugía , Hamartoma/fisiopatología , Hamartoma/diagnóstico por imagen , Hamartoma/complicaciones , Masculino , Femenino , Enfermedades Hipotalámicas/cirugía , Enfermedades Hipotalámicas/fisiopatología , Enfermedades Hipotalámicas/diagnóstico por imagen , Terapia por Láser/métodos , Niño , Preescolar , Imagen por Resonancia Magnética/métodos , Tálamo/diagnóstico por imagen , Tálamo/fisiopatología , Tálamo/cirugía , Lactante , Adolescente , Epilepsias Parciales/cirugía , Epilepsias Parciales/fisiopatología , Epilepsias Parciales/diagnóstico por imagen , Red Nerviosa/diagnóstico por imagen , Red Nerviosa/fisiopatología , Resultado del TratamientoRESUMEN
PURPOSE: To report the case of a small pigmented tumor in the macular region investigated using optical coherence tomography angiography (OCT-A) in the context of a multimodal approach. METHODS: Case report. RESULTS: A 24-year-old man was referred for evaluation of an asymptomatic unilateral round comma-shaped pigmented tumor located in the macular region of his right eye. Spectral-domain OCT revealed an irregular hyperreflective mass within the retina, with a thickened hyaloid membrane and abrupt margins, and a complete posterior shadowing effect. On fluorescein angiography, early hyperfluorescence without leakage in the middle and late phases and a subtle halo of hyperfluorescence in the late phase were observed. OCT-A revealed the presence of intrinsic vascularization at the level of the inner capillary plexus, with signal intensity present at the level of the outer capillary plexus. In the superficial scans, the retinal vessels were oriented radially to the lesion and were in continuity with the vascular network within the tumor mass. No choroidal vessels could be identified. CONCLUSION: We report the case of a congenital simple hamartoma of the retinal pigment epithelium investigated using OCT-A as part of multimodal imaging. OCT-A provided a new insight in the assessment of the lesion, differential diagnosis, and follow-up of the patient. This imaging modality could be an important non-invasive tool in the management of congenital hamartomas of the retinal pigment epithelium.
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Hamartoma/diagnóstico , Enfermedades de la Retina/diagnóstico , Epitelio Pigmentado de la Retina/patología , Angiografía con Fluoresceína , Hamartoma/congénito , Hamartoma/fisiopatología , Humanos , Masculino , Enfermedades de la Retina/fisiopatología , Vasos Retinianos/fisiopatología , Tomografía de Coherencia Óptica , Agudeza Visual , Adulto JovenRESUMEN
OBJECTIVE: Ablation surgery has become the first line of treatment for hypothalamic hamartomas (HHs). For effective treatment, optimum targeting of ablation is mandatory. The present study aimed to evaluate the correspondence between the electrophysiological features of HHs and morphological targeting by semimicrorecording during stereotactic radiofrequency thermocoagulation (SRT). METHODS: Eighty HH patients who underwent SRT were involved. Semimicrorecording was performed on the first trajectory. The distance from the center of the target at the morphological border (TMB) determined by magnetic resonance imaging, differences in discharge patterns, and area potentials (APs) were measured. RESULTS: The electrophysiological border (EB) between the HH and hypothalamus was detected by semimicrorecording in 73 (91.3%), AP increase (API) in the HH was detected in 31 (38.8%), and spike discharges (SDs) of the HH were detected in 56 patients (70.0%). Semimicrorecording showed significantly different APs among structures passing through the trajectory, except between API and SDs. The median distances from the center of the TMB to the EB, API, SDs, and AP decline were -3.50, -2.49, -1.38, and +2.00 mm, respectively. SIGNIFICANCE: The electrophysiological features of HHs were shown by semimicrorecording during SRT. The EB corresponded to the morphological border. The electrophysiologically active area of HHs was located near the border. Ablation surgery should focus on disconnection at the border between the HH and the hypothalamus to maximize its effectiveness, as well as to reduce complications.
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Hamartoma/cirugía , Enfermedades Hipotalámicas/cirugía , Monitorización Neurofisiológica Intraoperatoria/métodos , Radiocirugia/métodos , Adolescente , Adulto , Niño , Preescolar , Electrofisiología , Femenino , Hamartoma/diagnóstico por imagen , Hamartoma/patología , Hamartoma/fisiopatología , Humanos , Enfermedades Hipotalámicas/diagnóstico por imagen , Enfermedades Hipotalámicas/patología , Enfermedades Hipotalámicas/fisiopatología , Hipotálamo/diagnóstico por imagen , Hipotálamo/patología , Lactante , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Neuroimagen , Estudios Retrospectivos , Adulto JovenRESUMEN
Benign liver tumors in children are far less frequent than their malignant counterparts. Recently, there have been advances of diagnostic procedures and novel treatments with improved classification as a result. While malignant pediatric liver tumors have been comprehensively addressed by multicenter international tumor trials, benign tumors have more usually relied upon individualised workup and treatment. Due to the rarity and heterogeneity of these different entities, large studies are lacking. In this article the authors highlight the spectrum of benign liver tumors with special focus on specific clinical features, pathology, and treatment.
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Adenoma/terapia , Hiperplasia Nodular Focal/terapia , Hamartoma/terapia , Hemangioma/terapia , Neoplasias Hepáticas/terapia , Adenoma/patología , Adenoma/fisiopatología , Niño , Hiperplasia Nodular Focal/patología , Hiperplasia Nodular Focal/fisiopatología , Hamartoma/patología , Hamartoma/fisiopatología , Hemangioma/patología , Hemangioma/fisiopatología , Humanos , Neoplasias Hepáticas/patología , Neoplasias Hepáticas/fisiopatologíaRESUMEN
Hypothalamic hamartomas (HH) are rare, non-neoplastic heterotopic tissues which contains normal neurons and glia including oligodendrocytes and fibrillary astrocytes but in an abnormal distribution. They arise from the floor of the third ventricle, tuber cinereum, or mammillary bodies. Estimated incidence ranges from 1 in 50,000-1 in 1,000,000. Hypothalamic hamartomas are associated with different clinical presentations including various types of seizures, most characteristically; the gelastic seizures, precocious puberty, cognitive impairment, and behavioral changes. In this review, the authors discuss advancements in different diagnostic elements of hypothalamic hamartoma; including clinical features, EEG findings, and neuroimaging techniques. Moreover, different classifications described in the literature will be discussed.
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Encéfalo/diagnóstico por imagen , Hamartoma/diagnóstico , Enfermedades Hipotalámicas/diagnóstico , Convulsiones/etiología , Encéfalo/fisiopatología , Hamartoma/complicaciones , Hamartoma/diagnóstico por imagen , Hamartoma/fisiopatología , Humanos , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/diagnóstico por imagen , Enfermedades Hipotalámicas/fisiopatología , Imagen por Resonancia Magnética , Neuroimagen , Convulsiones/diagnóstico por imagen , Convulsiones/fisiopatologíaRESUMEN
Retrorectal cysts are cystic lesions located in the retrorectal space and are a distinct subset of retrorectal tumours, which are often misdiagnosed due to their rarity and mimicry of symptoms caused by common diseases. We have described the presentation and management of four patients who were diagnosed with retrorectal cysts from a 10-year retrospective chart review at our institute, a tertiary care centre. In middle-aged women, the following should raise suspicion of retrorectal cyst: gastrointestinal or urinary obstructive features, mass or fullness palpable on the posterior wall on digital rectal examination, presacral dimple, perianal fistula and/or recurrent disease. Such features should prompt an MRI evaluation of the pelvis for definitive diagnosis.
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Quistes , Disección/métodos , Hamartoma , Neoplasias Pélvicas/diagnóstico , Pelvis/diagnóstico por imagen , Enfermedades del Recto/diagnóstico , Fístula Rectal/diagnóstico , Adulto , Biopsia/métodos , Estreñimiento/diagnóstico , Estreñimiento/etiología , Quistes/diagnóstico , Quistes/patología , Quistes/fisiopatología , Quistes/cirugía , Errores Diagnósticos/prevención & control , Femenino , Hamartoma/diagnóstico , Hamartoma/patología , Hamartoma/fisiopatología , Hamartoma/cirugía , Humanos , Síntomas del Sistema Urinario Inferior/diagnóstico , Síntomas del Sistema Urinario Inferior/etiología , Imagen por Resonancia Magnética/métodos , Persona de Mediana EdadRESUMEN
This study aimed to characterize, clinically and neurophysiologically, a series of patients with gelastic seizures (GS), including both adults and children. We retrospectively collected patients with GS from epilepsy clinics of five tertiary hospital centres within a single country. Patients were selected through relatives'/caregivers' descriptions, home video and/or video-EEG monitoring. GS were identified through ictal semiology. Thirty-five patients were enrolled; 62.9% had initial GS in infancy, 14.3% in adolescence and 22.8% at adult age. Twenty-six had abnormal MRI: eight presented with hypothalamic hamartoma (HH) and 16 non-HH lesions that included different structural aetiologies and genetic, metabolic and immune aetiologies. All patients with HH had their first GS in infancy or adolescence. For the remaining aetiologies, GS started in infancy in 59.3%, in adolescence in 11.1% and at adult age in 29.6%. Video-EEG data was available for analysis in 11 patients, including seven patients with a non-HH MRI lesion. The ictal onset topography on scalp video-EEG was usually concordant with the MRI lesion (in 6/7 patients) and the most frequent ictal onset was fronto-temporal. In two patients, both video-EEG and MRI suggested a parietal and occipital epileptogenic zone. Aetiologies and patterns of affected topography unrelated to HH are common in patients with GS, and all age groups may manifest with this type of ictal semiology. This ictal manifestation has no lateralizing value and, despite a clear preponderance for hypothalamic, frontal and temporal lobe origins, other brain areas, namely the parietal and occipital lobes, should be considered.
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Epilepsias Parciales/diagnóstico , Epilepsias Parciales/fisiopatología , Hamartoma/diagnóstico , Hamartoma/fisiopatología , Enfermedades Hipotalámicas/diagnóstico , Enfermedades Hipotalámicas/fisiopatología , Adolescente , Adulto , Edad de Inicio , Niño , Preescolar , Electroencefalografía , Epilepsias Parciales/epidemiología , Epilepsias Parciales/patología , Femenino , Hamartoma/epidemiología , Hamartoma/patología , Humanos , Enfermedades Hipotalámicas/epidemiología , Enfermedades Hipotalámicas/patología , Lactante , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Portugal/epidemiología , Estudios Retrospectivos , Centros de Atención Terciaria , Adulto JovenRESUMEN
OBJECTIVE: Little is known about the intrinsic electrophysiological properties of hypothalamic hamartoma (HH) in vivo and seizure network since only few cases using stereoelectroencephalography (SEEG) electrodes exploring both cortex and HH have been published. To elucidate these issues, we analyzed simultaneous SEEG recordings in HH and cortex systematically. METHODS: We retrospectively investigated data from 15 consecutive patients with SEEG electrodes into the HH for the treatment purpose of radiofrequency thermocoagulation treatment. Additional SEEG electrodes were placed into the cortex in 11 patients to assess extra-HH involvement. Interictal discharges within the HH and anatomo-electroclinical correlations during seizures of each patient were qualitatively and quantitatively analyzed. RESULTS: Overall, 77 electrodes with 719 contacts were implanted, and 33 spontaneous seizures were recorded during long-term SEEG monitoring. Interictally, distinct electrophysiological patterns, including isolated intermittent spikes/sharp waves, burst spike and wave trains, paroxysmal fast discharges, periodic discharges, and high-frequency oscillations, were identified within the HH. Notably, synchronized or independent interictal discharges in the cortex were observed. Regarding the ictal discharges, the electrical onset pattern within the HH always started with abrupt giant shifts superimposed on low-voltage fast activity across patients. The gelastic seizure network mainly involved the HH, orbitofrontal areas, and cingulate gyrus. Seizures with automatisms and impaired awareness primarily propagated to mesial temporal lobes. Moreover, independent ictal discharges arising from the mesial temporal lobe were detected in three out of nine patients. INTERPRETATION: This study comprehensively reveals intrinsic electrophysiological patterns and epileptogenic networks in vivo, providing new insights into the mechanisms underlying cortical and subcortical epileptogenesis.
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Ondas Encefálicas/fisiología , Corteza Cerebral/fisiopatología , Hamartoma/fisiopatología , Enfermedades Hipotalámicas/fisiopatología , Red Nerviosa/fisiopatología , Convulsiones/fisiopatología , Adolescente , Adulto , Niño , Electrocorticografía , Femenino , Hamartoma/complicaciones , Humanos , Enfermedades Hipotalámicas/complicaciones , Masculino , Estudios Retrospectivos , Convulsiones/etiología , Adulto JovenRESUMEN
INTRODUCTION: Clinical manifestations of the hypothalamic hamartoma-epilepsy syndrome (HH-ES) in adulthood are variable. Efficacy of therapeutic options and outcome are diverse. METHODS: Retrospective study of adult patients diagnosed with a HH in magnetic resonance imaging and epilepsy who attended our tertiary Epilepsy Unit between 2003 and 2018. We report the clinical and electroencephalographic features of a series of adult patients with HH and related epilepsy seen in our center together with the treatments and seizure outcome. RESULTS: We describe a series of eight patients. Five males (62.5%), median age at evaluation was 28.5 years (IQR: 15.5). Clinical manifestations included focal with preserved and impaired awareness emotional seizures (gelastic seizures [GS]) in six patients (75%), focal tonic, atonic with impaired awareness and focal to bilateral tonic-clonic seizures. Mild GS were the only symptom in one patient. Three patients (37.5%) had endocrinological disturbances such as obesity and hypothyroidism. Fifty percent of the patients showed psychiatric comorbidity such as anxiety disorder and aggressiveness, and two patients had psychomotor delay. Seven patients (87.7%) had drug-resistant seizures and three of them were treated with radiosurgery. Out of the treated group, only one (33.3%) became seizure-free 2 years after surgery but developed psychiatric problems. The other two patients had an Engel IV outcome and received a vagal nerve stimulation (VNS) implant. VNS did not lead to changes either in intensity nor in seizure frequency. CONCLUSIONS: Hypothalamic hamartoma-epilepsy syndrome clinical manifestations in adult patients are as variable as at pediatric age. Outcome of therapeutic options such as radiosurgery or VNS may be poorer at this stage.
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Epilepsia Refractaria/fisiopatología , Epilepsias Parciales/fisiopatología , Hamartoma/fisiopatología , Enfermedades Hipotalámicas/fisiopatología , Adulto , Agresión , Anticonvulsivantes/uso terapéutico , Trastornos de Ansiedad , Comorbilidad , Epilepsia Refractaria/epidemiología , Epilepsia Refractaria/etiología , Epilepsia Refractaria/terapia , Electroencefalografía , Epilepsias Parciales/epidemiología , Epilepsias Parciales/etiología , Epilepsias Parciales/terapia , Epilepsia , Femenino , Hamartoma/complicaciones , Hamartoma/epidemiología , Hamartoma/terapia , Humanos , Enfermedades Hipotalámicas/complicaciones , Enfermedades Hipotalámicas/epidemiología , Enfermedades Hipotalámicas/terapia , Hipotiroidismo/epidemiología , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Obesidad/epidemiología , Trastornos Psicomotores/epidemiología , Radiocirugia , Estudios Retrospectivos , Convulsiones , Resultado del Tratamiento , Estimulación del Nervio Vago , Adulto JovenRESUMEN
BACKGROUND: With the development and application of endoscopic technology, most pedunculated polyps can be absolutely resected with a complete specimen by hot snare polypectomy (HSP). Brunner's gland hamartoma (BGH) is a rare benign small bowel tumor. The majority of BGH measuring about 2 cm in diameter, rarely larger than 5 cm. Most patients are asymptomatic, some may present with gastrointestinal hemorrhage or intestinal obstruction. Symptomatic larger lesions leading to bleeding or obstruction should be excised either endoscopically or surgically. Whether it is safe and effective that removing a BGH measuring about 7 cm by HSP is not known. CASE PRESENTATION: Here, we reported a rare case of a proximal duodenum pedunculated mass measuring about 7 cm which was responsible for the patient's severe anemia. we treated it as a pedunculated polyp. After being pretreated the stalk with an endoloop which was placed around the base of the mass to prevent post-polypectomy bleeding (PPB), the pedunculated BGH was removed by HSP completely. The stalk of the mass was negative. We achieved a curative resection. CONCLUSION: It is a safe and effective for our patient to treat the pedunculated BGH measuring about 7 cm as a pedunculated polyp and remove it by HSP. And future prospective studies in larger cohorts are needed to confirm it.
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Glándulas Duodenales/patología , Enfermedades Duodenales , Endoscopía/métodos , Hamartoma , Pólipos Intestinales , Disección/métodos , Enfermedades Duodenales/patología , Enfermedades Duodenales/fisiopatología , Enfermedades Duodenales/cirugía , Femenino , Hamartoma/patología , Hamartoma/fisiopatología , Hamartoma/cirugía , Humanos , Pólipos Intestinales/patología , Pólipos Intestinales/fisiopatología , Pólipos Intestinales/cirugía , Persona de Mediana Edad , Resultado del Tratamiento , Carga TumoralRESUMEN
OBJECTIVE: Intensive genetic analysis was performed to reveal comprehensive molecular insights into hypothalamic hamartoma (HH). METHODS: Thirty-eight individuals with HH were investigated by whole exome sequencing, target capture-based deep sequencing, or single nucleotide polymorphism (SNP) array using DNA extracted from blood leukocytes or HH samples. RESULTS: We identified a germline variant of KIAA0556, which encodes a ciliary protein, and 2 somatic variants of PTPN11, which forms part of the RAS/mitogen-activated protein kinase (MAPK) pathway, as well as variants in known genes associated with HH. An SNP array identified (among 3 patients) one germline copy-neutral loss of heterozygosity (cnLOH) at 6p22.3-p21.31 and 2 somatic cnLOH; one at 11q12.2-q25 that included DYNC2H1, which encodes a ciliary motor protein, and the other at 17p13.3-p11.2. A germline heterozygous variant and an identical somatic variant of DYNC2H1 arising from cnLOH at 11q12.2-q25 were confirmed in one patient (whose HH tissue, therefore, contains biallelic variants of DYNC2H1). Furthermore, a combination of a germline and a somatic DYNC2H1 variant was detected in another patient. CONCLUSIONS: Overall, our cohort identified germline/somatic alterations in 34% (13/38) of patients with HH. Disruption of the Shh signaling pathway associated with cilia or the RAS/MAPK pathway may lead to the development of HH.
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Dineínas Citoplasmáticas/genética , Hamartoma/genética , Enfermedades Hipotalámicas/genética , Proteínas Asociadas a Microtúbulos/genética , Proteína Tirosina Fosfatasa no Receptora Tipo 11/genética , Adolescente , Adulto , Niño , Preescolar , Cilios , Epilepsias Parciales/fisiopatología , Epilepsia Parcial Compleja/fisiopatología , Femenino , Mutación de Línea Germinal , Hamartoma/fisiopatología , Secuenciación de Nucleótidos de Alto Rendimiento , Humanos , Enfermedades Hipotalámicas/fisiopatología , Lactante , Recién Nacido , Sistema de Señalización de MAP Quinasas , Masculino , Mutación , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Transducción de Señal , Secuenciación del Exoma , Adulto JovenAsunto(s)
Axila/anomalías , Enfermedades Linfáticas/diagnóstico , Pared Torácica/anomalías , Adolescente , Axila/fisiopatología , Hamartoma/complicaciones , Hamartoma/fisiopatología , Hemorragia/etiología , Hemorragia/fisiopatología , Humanos , Enfermedades Linfáticas/fisiopatología , Masculino , Pared Torácica/fisiopatologíaAsunto(s)
Pie/fisiopatología , Hamartoma/diagnóstico , Supinación , Enfermedades de las Glándulas Sudoríparas/diagnóstico , Biopsia , Niño , Glándulas Ecrinas/patología , Hamartoma/complicaciones , Hamartoma/fisiopatología , Humanos , Masculino , Enfermedades de las Glándulas Sudoríparas/complicaciones , Enfermedades de las Glándulas Sudoríparas/fisiopatologíaRESUMEN
Phakomatoses (phakoma = birthmark) are a group of diseases or syndromes that have hamartomas (tumorous malformations composed of tissues normally present at the location where they develop) of the skin, brain, and eye (oculoneurocutaneous syndromes).
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Enfermedad de von Hippel-Lindau/fisiopatología , Encéfalo/patología , Ojo/patología , Hamartoma/fisiopatología , Humanos , Piel/patologíaRESUMEN
BACKGROUND: The use of magnetic resonance imaging (MRI)-guided ablation methods, such as laser interstitial thermal therapy and MRI-guided radiofrequency thermocoagulation (RF-TC), poses a risk of mistreatment in patients with nonepileptic hypothalamic hamartoma (HH). Using stereoelectroencephalography (SEEG)-guided RF-TC could solve this problem; however, there are no reports on the efficacy of this technique. Thus, we examined the safety and efficacy of this method. METHODS: This retrospective study was conducted in 9 consecutive patients with HH treated between August 2015 and July 2017. All patients underwent a single round of SEEG-guided RF-TC treatment after comprehensive assessment. Outcomes were assessed using Engel's classification system. Spearman's correlation and receiver operating characteristic curves were analyzed to identify potential factors predictive of seizure outcome after an average follow-up duration of 18.78 months. RESULTS: A total of 20 SEEG electrodes were implanted in 9 patients with HH, and 73 lesions were created within the tumors. No obvious symptoms were observed during coagulation. Five patients (55.56%) achieved Engel's class I recovery, and the other 4 (44.44%) achieved Engel's class II recovery; weight gain was observed in 1 patient. Correlation analysis revealed a trend of better seizure outcomes for larger-sized tumors. CONCLUSIONS: The SEEG signal can guide ablation of HH. SEEG-guided RF-TC is a safe procedure that shows promising efficacy. Special attention to the tumor attachment and multiple rounds of RF-TC might help improve seizure-free rates in the future.
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Electrocoagulación/métodos , Electroencefalografía/métodos , Hamartoma/diagnóstico por imagen , Hamartoma/cirugía , Enfermedades Hipotalámicas/diagnóstico por imagen , Enfermedades Hipotalámicas/cirugía , Técnicas Estereotáxicas , Adolescente , Adulto , Niño , Electrodos Implantados , Femenino , Estudios de Seguimiento , Hamartoma/fisiopatología , Humanos , Enfermedades Hipotalámicas/fisiopatología , Masculino , Estudios Retrospectivos , Adulto JovenAsunto(s)
Procedimientos Quirúrgicos Cardíacos/métodos , Disnea/diagnóstico , Ecocardiografía Transesofágica/métodos , Hamartoma , Neoplasias Cardíacas , Mesenquimoma , Tabique Interventricular , Medios de Contraste/farmacología , Disnea/etiología , Gadolinio/farmacología , Hamartoma/patología , Hamartoma/fisiopatología , Hamartoma/cirugía , Neoplasias Cardíacas/patología , Neoplasias Cardíacas/fisiopatología , Neoplasias Cardíacas/cirugía , Hemodinámica , Humanos , Aumento de la Imagen/métodos , Inmunohistoquímica , Cuidados Intraoperatorios/métodos , Imagen por Resonancia Cinemagnética/métodos , Masculino , Mesenquimoma/patología , Mesenquimoma/fisiopatología , Mesenquimoma/cirugía , Persona de Mediana Edad , Resultado del Tratamiento , Tabique Interventricular/diagnóstico por imagen , Tabique Interventricular/patologíaRESUMEN
BACKGROUND: Hypothalamic hamartoma (HH) represents the commonest cause of organic central precocious puberty (CPP). Follow-up of these patients in adulthood is scarce. OBJECTIVE: To describe the anthropometric, metabolic, and reproductive parameters of patients with CPP due to HH before and after treatment with gonadotropin-releasing hormone analog (GnRHa). METHODS: We performed a retrospective and cross-sectional study in a single tertiary center including 14 patients (7 females) with CPP due to HH. RESULTS: The mean duration of GnRHa treatment was 7.7 ± 2.4 years in boys and 7.9 ± 2.1 years in girls. GnRHa treatment was interrupted at the mean chronological age (CA) of 12.1 ± 1.1 years in boys and 10.7 ± 0.5 years in girls. At the last visit, the mean CA of the male and female patients was 21.5 ± 3.2 and 24 ± 3.9 years, respectively. Eleven of the 14 patients reached normal final height (FH) (standard deviation score -0.6 ± 0.9 for males and -0.6 ± 0.5 for females), all of them within the target height (TH) range. The remaining 3 patients had predicted height within the TH range. The mean body mass index and the percentage of body fat mass was significantly higher in females, with a higher prevalence of metabolic disorders. All patients presented normal gonadal function in adulthood, and 3 males fathered a child. CONCLUSION: All patients with CPP due to HH reached normal FH or near-FH. A higher prevalence of overweight/obesity and hypercholesterolemia was observed in the female patients. Finally, no reproductive disorder was identified in both sexes, indicating that HH per se has no deleterious effect on the gonadotropic axis in adulthood.
Asunto(s)
Hormona Liberadora de Gonadotropina/análogos & derivados , Hamartoma/complicaciones , Enfermedades Hipotalámicas/complicaciones , Pubertad Precoz/tratamiento farmacológico , Pubertad Precoz/etiología , Adiposidad/efectos de los fármacos , Estatura/efectos de los fármacos , Índice de Masa Corporal , Estudios Transversales , Femenino , Hormona Liberadora de Gonadotropina/uso terapéutico , Hamartoma/tratamiento farmacológico , Hamartoma/fisiopatología , Humanos , Enfermedades Hipotalámicas/tratamiento farmacológico , Enfermedades Hipotalámicas/fisiopatología , Estudios Longitudinales , Masculino , Pubertad Precoz/fisiopatología , Reproducción/efectos de los fármacos , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
Gelastic seizures, usually with onset in early infancy, are the hallmark manifestation of hypothalamic hamartoma. This seizure type is directly generated by hamartoma itself, intrinsically epileptogenic because of its anatomofunctional organization. Other types of seizures, focal or generalized, may appear during the evolution, probably resulting from mechanisms of secondary epileptogenesis. Nevertheless, the clinical expression and the severity of the syndrome, ranging from a focal drug-resistant epilepsy to a catastrophic generalized encephalopathy with severe cognitive and behavioral impairments, depends on the size and the site of attachment of the hamartoma. Early suspicion, timely diagnosis, and appropriate treatment are mandatory to reverse a potential catastrophic evolution of this condition.
Asunto(s)
Epilepsias Parciales/diagnóstico , Hamartoma/diagnóstico , Enfermedades Hipotalámicas/diagnóstico , Niño , Trastornos de la Conducta Infantil/diagnóstico , Trastornos de la Conducta Infantil/fisiopatología , Trastornos de la Conducta Infantil/cirugía , Preescolar , Trastornos del Conocimiento/diagnóstico , Trastornos del Conocimiento/fisiopatología , Trastornos del Conocimiento/cirugía , Progresión de la Enfermedad , Epilepsia Refractaria/diagnóstico , Epilepsia Refractaria/fisiopatología , Epilepsia Refractaria/cirugía , Diagnóstico Precoz , Intervención Médica Temprana , Electroencefalografía , Epilepsias Parciales/fisiopatología , Epilepsias Parciales/cirugía , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/fisiopatología , Epilepsia Generalizada/cirugía , Hamartoma/fisiopatología , Hamartoma/cirugía , Humanos , Enfermedades Hipotalámicas/fisiopatología , Enfermedades Hipotalámicas/cirugía , Hipotálamo/fisiopatología , Hipotálamo/cirugía , Lactante , Excitación Neurológica/fisiología , Tomografía de Emisión de Positrones , Pronóstico , Radiocirugia , Procesamiento de Señales Asistido por Computador , SíndromeRESUMEN
The clinical appearance of patients with hypothalamic hamartomas is very heterogeneous, and interindividual variability of intellectual abilities is not completely understood. We retrospectively investigated cerebral dysfunction as indicated by reduced regional glucose metabolism in 29 patients (age range 7-49 years) with epilepsy due to hypothalamic hamartomas. Brain metabolism assessed by [18 F]FDG-PET was compared between patients with and without cognitive impairment controlled for unevenly distributed hamartoma lateralization seen on magnetic resonance imaging (MRI). Due to the broad age range, the variable "age" was included in the imaging analyses as a covariate. Additional voxel-wise analysis with hamartoma volume, disease duration, seizure severity, seizure frequency, and antiepileptic drug (AED) load as well as dosage and gender as further covariates was accomplished. Furthermore, global visual ratings on laterality of hypometabolism patterns were assessed according to clinical standards and related to hamartoma lateralization on MRI as well as lateralization of electroencephalography (EEG) abnormalities. Cognitively impaired patients showed significantly reduced glucose metabolism in bilateral frontal as well as right parietal and posterior midline cortices (p < 0.005), irrespective of hamartoma lateralization seen on MRI. Additional voxel-wise analysis with the above-mentioned further covariates revealed comparable results. FDG uptake values within the main right frontal cluster obtained from group comparison were not associated with hamartoma volume, disease duration, or AED load. Irrespective of cognitive functioning, lateralization of reduced FDG uptake in global visual ratings was associated with lateralization of hypothalamic hamartomas seen on MRI (p < 0.01), but not with EEG abnormalities. We found regions of reduced glucose metabolism in cognitively impaired patients remote from the hypothalamic hamartomas in frontal and parietal regions, which have been identified as important network nodes in the human brain and are linked to higher cognitive functions.