MR Imaging and Spectroscopy of a Tuber Cinereum Hamartoma in a Patient with Growth Hormone Deficiency and Hypogonadotropic. Hamartoma of the hypothalamus and tuber cinereum may be regarded as a midline .. Brower, B. and Brummelcamp, R.: Le syndrome de puberte precoce. La edad de debut de la epilepsia en los pacientes con hamartoma . (MB). Coronal section, T2-weighted sequence, showing a tuber cinereum hamartoma.
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It is edited by Dr. The Journal accepts works on basic as well applied research on any field of neurology. The Impact Factor measures the average number of citations received in a particular year by papers published in the journal during the two receding years. CiteScore measures average citations received per document published.
SRJ is a prestige metric based on the idea that not all citations are the same. SJR uses a similar algorithm as the Google page rank; it provides a quantitative and qualitative measure of the journal’s impact. SNIP measures contextual citation impact by wighting citations based on the total number of citations in a subject field. To describe the epidemiological and clinical-electroencephalographic characteristics, and associated morbidity of patients with hypothalamic hamartoma, as well as the treatment followed and outcomes.
We have retrospectively reviewed the medical histories of 10 patients diagnosed with hypothalamic hamartoma by magnetic resonance imaging MRI over fel last 20 years. The age of onset of epilepsy in patients with hypothalamic hamartoma in our series was between the first days of life and 2 years. Of the cinegeum total patients, 8 had epileptic seizures during its progress.
All of them had gelastic seizures, in addition to other types of seizures, with the most common being partial simple seizures. The electroencephalographic findings recorded were highly variable. One of the patients developed epileptic encephalopathy.
Five patients had some kind of conduct disorder. Five patients had cognitive problems. At least 2 different tubed drugs AEDs were measured in 8 of the patients who had seizures, and in 6 of these some type of non-pharmacological treatment had been used with the objective of seizure control.
Acceptable control over epilepsy has only been achieved in 3 of the 8 patients. Five patients of the series developed precocious puberty. The average time of follow-up of the series was approximately 6 years. Epilepsy is the most frequent manifestation of hypothalamic hamartomas.
Most cases were drug-resistant, which led to difficulties in the management of these patients, requiring surgery for their control on many occasions.
Tuber cinereum hamartoma – Wikipedia
Psychiatric comorbidity and cognitive impairment are common. Cinco pacientes presentaron problemas cognitivos. Solo en 3 de los 8 pacientes se ha conseguido aceptable control de su epilepsia. Cinco pacientes de la serie desarrollaron pubertad precoz. Hypothalamic hamartoma is a non-neoplastic malformation that appears in the hypothalamus between the infundibular recess and the mammillary bodies.
It is associated with endocrine and neurological symptoms. One of the main characteristics of hamartoma is its intrinsically epileptogenic activity, due to the presence of clusters of small GABAergic interneurons which fire spontaneously. Gelastic seizures are one of the most characteristic and frequent symptoms in patients with hypothalamic hamartoma. These seizures appear in the early years of life some cases have tubet been described in neonateswith brief, hamagtoma and frequent episodes sometimes in clusters of unprovoked and automatic laughter, without any sense of joy or loss of consciousness, although there may be a brief decrease in consciousness.
Tubsr is usually accompanied by autonomic signs tachycardia, breathing disorders, flushing, pupil dilation, etc. Patients having these seizures may exhibit groaning and flushing, tubwr soon after by crying. This may be accompanied by orofacial automatisms.
Patients with hypothalamic hamartoma may suffer other kinds of epileptic manifestations, such as complex partial and generalised seizures. The surface electroencephalogram EEG has a limited ability to show epileptiform activity in this pathology, given the deep location of this lesion and the complex connections of the hamartoma.
The clinical spectrum of hypothalamic hamartoma is quite variable; patients may have asymptomatic tumours, isolated endocrine disorders such as precocious puberty, or suffer from the syndrome described by Berkovic in as early-onset gelastic epilepsy and hypothalamic hamartoma precocious puberty. This syndrome is characterised by catastrophic epileptic encephalopathy and accompanied by cognitive problems and severe behavioural disorders.
Epilepsy associated with hypothalamic hamartoma is typically refractory to AEDs. Achieving good seizure control is rare, even when administering high doses of AEDs in polytherapy. It has been shown that hamartoma resection is one of the best options for controlling seizures, since they are known to be resistant to AEDs.
In addition, this approach produces improvements in cognitive problems and behavioural disorders.
Several surgical approaches have been proposed for resecting hamartomas microsurgical resection or disconnection, endoscopic resection. However, all those procedures entail substantial surgical risks. For that reason, unconventional surgical procedures delivering acceptable outcomes have been developed recently gamma-knife radiosurgery, radioactive seed implants, etc.
Tuber cinereum hamartoma
We reviewed the clinical histories of the patients recorded in our databases as being diagnosed with hypothalamic deo in the last 20 years between and We obtained epidemiological data age, sex, race, pregnancies, childbirth, neonatal period, family historyclinical data age at diagnosis, symptoms, diagnostic delay, associated comorbidityand complementary tests EEG, video-EEG, brain magnetic resonance imagingneuropsychological assessment, and any treatments received.
In cases requiring surgery, we collected data regarding the type of surgery, age at surgery, and any surgical complications. All patients in our group were paediatric patients age 0—12 years at time of diagnosis. They received medical follow-up in our department for 6 years. All patients were treated in our paediatric neurology, neurosurgery, and endocrinology departments, as needed.
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No patients were lost to follow-up. The 5 patients who underwent neuropsychological assessment completed age-adapted cognitive and language tests. Of the 10 patients in our series, 6 were male. Only one patient had a family history of epilepsy.
Regarding personal medical history, the prenatal period was monitored in all but one of the patients. In another patient, the third-trimester ultrasound showed an intracranial mass anterior to the cerebellum and inferior to the thalamus and third ventricle. Two patients needed to be hospitalised upon birth. One had paroxysmal attacks the patient mentioned above who was diagnosed prenatally by ultrasound ; the other required ventriculoperitoneal shunting on the 6th day of life due to hydrocephalus secondary to an arachnoid cyst.
Summary of the characteristics of patients with hypothalamic hamartoma in our series.
From the earliest stages, 4 patients experienced psychomotor retardation. One female patient had a previous diagnosis of neurofibromatosis type Age at symptom onset was highly variable, ranging from the first days of life in 2 patients in the series, to 6 years in the patient who had a hamartoma that was incidentally discovered while using MRI to assess neurofibromatosis type Hamatoma at referral, whether for purposes of beginning the study or for follow-up cinereeum the neurology department, also varied 2—14 years.
Mean follow-up time in the series was 6 years. Three patients were transitioned from our department after reaching the age of The initial clinical symptoms of patients with hypothalamic hamartoma were as follows: Of the series total, 2 patients did not experience any seizures during the course of the disease. Age at onset of seizures ranged between a few days and 4 years, with a mean age of 10 months. Gelastic seizures were common in all patients suffering from epilepsy, and were the first type of seizures experienced by 5 of the patients.
Seizures appeared during the hamartima days of life in 2 patients. One patient presented status gelasticus at the age of Dacrystic seizures also appeared in 2 patients; the initial critical episode in 1 of these patients was dacrystic. All patients in the series experienced at least one other type of seizure as well. Simple partial seizures were the most frequent, followed by complex partial and generalised seizures.
One of the patients had atonic seizures. Five patients developed precocious puberty during the course of the disease. All but one was male. Among these patients, 2 had growth hormone deficiency and one also suffered from hyperthyroidism.
In this series, 6 patients had some type of developmental delay or learning disorder. One patient’s condition progressed to pervasive developmental disorder. We performed a neuropsychological guber of 5 hamartlma.
The intelligence quotient was within the normal range in 2 patients, with borderline intellectual functioning in 1 patient, mild mental retardation in 1 patient and moderate mental retardation in the last patient. Five patients had behavioural disorders: One patient presented both hmartoma.
Tuber cinereum hamartoma | Radiology Case |
Different imaging tests were performed, including transfontanellar ultrasound in 3 patients due to different reasons. Computed tomography CT was carried out in only one patient. The presence of hypothalamic hamartoma was confirmed in all patients by using pituitary MRI Figs.
The tumour sizes measured by MRI ranged from 1. Coronal section, T2-weighted sequence, showing a tuber cinereum hamartoma. Sagittal section, T1-weighted sequence showing a hamartoma in the left hypothalamic region.
Summary of complementary tests and findings. The 8 patients who experienced seizures during the icnereum of the disease underwent at least one conventional Rel and video-EEG monitoring study during sleep. All these patients showed abnormal results. The table lists the type of seizures recorded for each patient.
We first attempted to control seizures with pharmacological treatment in all patients with epilepsy. All patients required at least 2 different drugs for seizure control. The most frequently used drugs were oxcarbazepine 5carbamazepine 4cjnereum 4valproic acid 4and thber 3.
The patient with status gelasticus needed polytherapy with as many as 4 drugs.