Asymmetric gelastic seizure as a lateralizing sign in patients with hypothalamic hamartoma

2019 ◽  
Vol 94 ◽  
pp. 35-40 ◽  
Author(s):  
Shigeki Kameyama ◽  
Hiroshi Shirozu ◽  
Hiroshi Masuda
Keyword(s):  
Hypothalamic Hamartoma ◽  
Gelastic Seizure

scholarly journals Hypothalamic hamartoma with gelastic seizures: a case report

2020 ◽  
Vol 7 (4) ◽  
pp. 961
Author(s):  
Zosangliani . ◽  
Avishek Datta ◽  
Rukuwe Thele ◽  
Bishal Gurung ◽  
T. Kambiakdik
Keyword(s):  
Pediatric Population ◽  
Age Groups ◽  
Clinical Manifestations ◽  
Clonic Seizure ◽  
Tonic Clonic Seizure ◽  
Hypothalamic Hamartoma ◽  
Gelastic Seizures ◽  
Younger Age ◽  
Gelastic Seizure ◽  
Gelastic Epilepsy

Hypothalamic Hamartoma (HH) may have diverse clinical manifestations. Its hallmark association is with gelastic seizures. Gelastic epilepsy is characterized by episodes of loud, hollow, mirthless, stereo-typed, forced laughter. The patient may stare and giggle briefly without any other motor manifestations. Hypothalamic hamartoma is most often the cause of gelastic seizures. Here, authors report a case of gelastic seizure with hypothalamic hamartoma in a 14-month-old boy with an associated tonic clonic seizure.  This case highlights the possibility of underdiagnosed hypothalamic hamartoma in younger age groups among pediatric population.

scholarly journals Management of Central Precocious Puberty in Children with Hypothalamic Hamartoma

Children ◽  
2021 ◽  
Vol 8 (8) ◽  
pp. 711
Author(s):  
Junghwan Suh ◽  
Youngha Choi ◽  
Jun Suk Oh ◽  
Kyungchul Song ◽  
Han Saem Choi ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Precocious Puberty ◽  
Gnrh Agonist ◽  
Clinical Symptoms ◽  
Benign Lesion ◽  
Standard Deviation Score ◽  
Central Precocious Puberty ◽  
Bone Age ◽  
Hypothalamic Hamartoma ◽  
Gelastic Seizure

Hypothalamic hamartoma (HH) is a rare, congenital, and benign lesion of the tuber cinereum, typically presenting with central precocious puberty (CPP), gelastic seizure, and developmental delay. This study aimed to investigate CPP in HH patients and compare clinical features between before and after gonadotropin-releasing hormone (GnRH) agonist treatment. A total of 30 HH patients under 18 years of age who visited Severance Children’s Hospital between January 2005 and May 2020 were retrospectively reviewed. Fourteen patients were male (46.7%) and sixteen (53.3%) were female, with a mean age at diagnosis was4.2 ± 2.9 years. During follow-up, 24 patients (80.0%) were diagnosed with CPP, 15 patients (50.0%) had gelastic seizure, and 13 patients (43.3%) had developmental delay. The gelastic seizure was significantly associated with sessile type HH rather than pedunculated type HH (85.7% vs. 18.8%, p = 0.001). After GnRH agonist treatment, discrepancies between bone age and chronological age decreased (3.3 ± 1.3 years to 2.0 ± 1.7 years, p = 0.002). Additionally, height standard deviation score for bone age was increased, and predicted adult height increased significantly in females, while males showed an increasing trend. Clinical symptoms of HH were closely associated with the location of HH, and GnRH agonist treatment was safe and effective in the management of CPP caused by HH.

Impact of stereotactic interstitial radiosurgery on cognition in ten juvenile epilepsy patients with hypothalamic hamartoma

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
K Wagner ◽  
L Frings ◽  
A Quiske ◽  
S Bonakdar ◽  
F von Deimling ◽  
...  
Keyword(s):  
Hypothalamic Hamartoma ◽  
Interstitial Radiosurgery

scholarly journals Developmental malformations in Huntington disease: neuropathologic evidence of focal neuronal migration defects in a subset of adult brains

2021 ◽  
Vol 141 (3) ◽  
pp. 399-413 ◽  
Author(s):  
R. A. Hickman ◽  
P. L. Faust ◽  
M. K. Rosenblum ◽  
K. Marder ◽  
M. F. Mehler ◽  
...  
Keyword(s):  
New York ◽  
Huntington Disease ◽  
Trinucleotide Repeat ◽  
Validation Cohort ◽  
Hypothalamic Hamartoma ◽  
Discovery Cohort ◽  
Brain Bank ◽  
Neuronal Precursors ◽  
Neurodevelopmental Abnormalities ◽  
Developmental Malformations

AbstractNeuropathologic hallmarks of Huntington Disease (HD) include the progressive neurodegeneration of the striatum and the presence of Huntingtin (HTT) aggregates that result from abnormal polyQ expansion of the HTT gene. Whether the pathogenic trinucleotide repeat expansion of the HTT gene causes neurodevelopmental abnormalities has garnered attention in both murine and human studies; however, documentation of discrete malformations in autopsy brains of HD individuals has yet to be described. We retrospectively searched the New York Brain Bank (discovery cohort) and an independent cohort (validation cohort) to determine whether developmental malformations are more frequently detected in HD versus non-HD brains and to document their neuropathologic features. One-hundred and thirty HD and 1600 non-HD whole brains were included in the discovery cohort and 720 HD and 1989 non-HD half brains were assessed in the validation cohort. Cases with developmental malformations were found at 6.4–8.2 times greater frequency in HD than in non-HD brains (discovery cohort: OR 8.68, 95% CI 3.48–21.63, P=4.8 × 10-5; validation cohort: OR 6.50, 95% CI 1.83–23.17, P=0.0050). Periventricular nodular heterotopias (PNH) were the most frequent malformations and contained HTT and p62 aggregates analogous to the cortex, whereas cortical malformations with immature neuronal populations did not harbor such inclusions. HD individuals with malformations had heterozygous HTT CAG expansions between 40 and 52 repeats, were more frequently women, and all were asymmetric and focal, aside from one midline hypothalamic hamartoma. Using two independent brain bank cohorts, this large neuropathologic series demonstrates an increased occurrence of developmental malformations in HD brains. Since pathogenic HTT gene expansion is associated with genomic instability, one possible explanation is that neuronal precursors are more susceptible to somatic mutation of genes involved in cortical migration. Our findings further support emerging evidence that pathogenic trinucleotide repeat expansions of the HTT gene may impact neurodevelopment.

Stereotaxy for Hypothalamic Hamartoma with Intractable Gelastic Seizures: Technical Case Report

Neurosurgery ◽  
1999 ◽  
Vol 44 (6) ◽  
pp. 1347-1350 ◽  
Author(s):  
Masafumi Fukuda ◽  
Shigeki Kameyama ◽  
Manabu Wachi ◽  
Ryuichi Tanaka
Keyword(s):  
Case Report ◽  
Hypothalamic Hamartoma ◽  
Gelastic Seizures

Lack of Adrenarche in Two Children with Precocious Puberty Secondary to Hypothalamic Hamartoma

1989 ◽  
Vol 31 (5-6) ◽  
pp. 226-229 ◽  
Author(s):  
Raphaël Rappaport ◽  
Raja Brauner
Keyword(s):  
Precocious Puberty ◽  
Hypothalamic Hamartoma
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