The relationship between magnetic resonance imaging findings and clinical manifestations of hypothalamic hamartoma

Arita, Kazunori; Ikawa, Fusao; Kurisu, Kaoru; Sumida, Masayuki; Harada, Kunyu; Uozumi, Tohru; Monden, Shuji; Yoshida, Jun; Nishi, Yoshikazu

doi:10.3171/jns.1999.91.2.0212

Cited by 209 publications

(170 citation statements)

References 49 publications

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“…The sessile character of the lesions observed in our cases is a common finding in patients with hamartoma and epilepsy (Arita et al, 1999), while pedunculated lesions are only associated with precocious puberty.…”

Section: Mri Datasupporting

confidence: 53%

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

Leal

Passão²,

Calado

et al. 2002

Clinical Neurophysiology

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Objective: The epilepsy associated with the hypothalamic hamartomas constitutes a syndrome with peculiar seizures, usually refractory to medical therapy, mild cognitive delay, behavioural problems and multifocal spike activity in the scalp electroencephalogram (EEG). The cortical origin of spikes has been widely assumed but not specifically demonstrated.Methods: We present results of a source analysis of interictal spikes from 4 patients (age 2-25 years) with epilepsy and hypothalamic hamartoma, using EEG scalp recordings (32 electrodes) and realistic boundary element models constructed from volumetric magnetic resonance imaging (MRIs). Multifocal spike activity was the most common finding, distributed mainly over the frontal and temporal lobes. A spike classification based on scalp topography was done and averaging within each class performed to improve the signal to noise ratio. Single moving dipole models were used, as well as the Rap-MUSIC algorithm.Results: All spikes with good signal to noise ratio were best explained by initial deep sources in the neighbourhood of the hamartoma, with late sources located in the cortex. Not a single patient could have his spike activity explained by a combination of cortical sources.Conclusions: Overall, the results demonstrate a consistent origin of spike activity in the subcortical region in the neighbourhood of the hamartoma, with late spread to cortical areas. q

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Section: Mri Datasupporting

confidence: 53%

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

Leal

Passão²,

Calado

et al. 2002

Clinical Neurophysiology

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“…In agreement with this hypothesis, precocious puberty is well controlled by LHRH analogs, which suppress gonadotropin secretion 31 , or by long acting LHRH analogs which normalize basal serum peak of LH and FSH on LH-RH stimulation test 6,7 . Similar positive results were observed, in our case, after therapy.…”

Section: Discussionsupporting

confidence: 54%

“…Alternatively, alterations of the hypothalamus due to compression of hydrocephalus or to functional abnormality not demonstrated by TC or MRI may have impaired the inhibitory gonadotropin secretory cells, causing precocious puberty 7 .…”

Section: Discussionmentioning

confidence: 99%

“…The patient was affected by OAVS 1,2 with hemifacial microsomia, microphthalmia, macrostomia, right palpebral ptosis, malformed ear, scoliosis, short stature, velopharyngeal insufficiency, thumb abnormalities, hydrocephalus, and precocious puberty 3,4,5,6,7 . The minimal symptoms for the diagnosis of OAVS include at least two of these features: hemifacial microsomia, otic hypoplasia, vertebral abnormalities, epibulbar dermoid and/or upper eye lid coloboma (the two last symptoms typical of Goldenhar syndrome 8 ).…”

Section: Discussionmentioning

confidence: 99%

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Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

2014

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The authors report on the first case of OAVS (Oculo-AuriculoVertebral-Spectrum), with hemifacial microsomy, hydrocephalus, pubertas precox, thelarche at 4 years of age, vaginal bleeding at 5 years, and left ovary of adult type on echography (right ovary initially not visualized). FISH and CGH-ARRAYS methods were negative. By GnRH therapy the delay of onset puberty was obtained. The authors ascribe facial and ovary asymmetry to a derangement of blastogenesis, during which axial right-left structures begin the develop with consequent migration or interation with surrounding tissues of neural crest cells and alteration of diencephalic pituitary systems. RiassuntoGli autori riportano il primo caso della letteratura di OAVS (OculoAuriculo-Vertebral-Spectrum) con asimmetria facciale, idrocefalo e pubertà precoce, con telarca insorto a 4 anni, perdite ematiche vaginali a 5 anni ed ovaio sn di tipo adulto, mentre il destro non era inizialmente visualizzato e negativi erano FISH e ARRAYS -CGH. Attribuiscono l'asimmetria facciale ed ovarica nella bambina ad un disturbo nella blastogenesi, epoca in cui si determinano gli assi corporei destro-sinistro, con successiva anomalia nella migrazione ed interazione delle cellule delle creste neurali con i tessuti ed in particolare con l'ipofisi ed il diencefalo.Segnalano i risultati positivi ottenuti sul rallentamento della pubertà mediante preparati a base di Gn RH.Oculo-auriculo-vertebral spectrum (OAVS) is relatively common condition, involving the structures derived from the branchial arches, but also other organs 1 We report on the first case of OAVS with precocious puberty. Family history of the patient, a female, included an aunt of her grandmother with right eye proptosis and microphthalmia, her mother with hearing loss, a brother with right hemifacial microsomia and right eye slight than left. The mother showed precocious cessation of menstruations (at 35 years of age). The patient was born by caesarean section, birth weight was 3150 gr, head circumference 38 cm. The baby presented respiratory distress, bilateral pes talo-valgus, feeding difficulties in the first months of life delayed developmental milestones, and frequent otitis. At 1 years 7 months of life, physical examination showed a female (Fig.1) in the 75 th percentile for height and in the 90 th percentile for weight (Italian growth charts). Frontal bossing, right eye microphthalmia with eyelid ptosis and strabismus were present. Palpebral fissures showed slight antimongoloid slant; eye movements were normal bilaterally. The face was asymmetric, with hemifacial microsomia, the chin was receding; mild malar hypoplasia, and the right ear set at a lower level than the left one were present. Ears presented bilaterally simple, with hypoplastic lobules, and were low set (Fig.2). Nasal root was flat and nasal pyramid was downturned. Malocclusion due to mandibular asymmetry, macrostomia, overjet and difficulties in chewing and swallowing were present. Teeth were small with some enamel dysplasias. The voice was na...

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“…17,33 The HH was not always noted on CT, particularly if it was small, and it was only after the introduction of MR imaging that the presence of the HH and its enormous anatomical variations were appreciated in these patients with intractable epilepsy. 3,12 It is also challenging to diagnose gelastic seizures in infants. Some of these infants may be diagnosed with gastroesophageal reflux 36 or colic.…”

mentioning

confidence: 99%

The evolution of treatment for hypothalamic hamartoma: a personal odyssey

Rosenfeld¹

2011

FOC

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The prognosis for patients with hypothalamic hamartoma has improved dramatically over the last 20 years, for 3 main reasons. First, because of improved understanding of the anatomy and pathophysiology of these varied lesions. Second, due to advances in brain imaging and refinements in microsurgery, including the anterior transcallosal interforniceal approach, endoscopic, and skull-base approaches. And third, because of increasing experience with stereotactic radiosurgery, interstitial radiotherapy, and radiofrequency lesioning. Patients with hypothalamic hamartoma should be managed in comprehensive epilepsy centers where the treatments are individualized and concentrated in the hands of surgeons who can perform the full range of surgery, including approaches to the third ventricle. Total seizure-freedom rates of 52% to 66% have been achieved with surgery.

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The relationship between magnetic resonance imaging findings and clinical manifestations of hypothalamic hamartoma

Abstract: Classification of hypothalamic hamartomas into these two categories based on MR findings resulted in a clear correlation between symptoms and the subsequent clinical course.

Cited by 209 publications

References 49 publications

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

Interictal spike EEG source analysis in hypothalamic hamartoma epilepsy

Precocious puberty in a patient with Oculo-Auriculo-Verebral spectrum (OAVS)

The evolution of treatment for hypothalamic hamartoma: a personal odyssey

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