Precocious puberty due to a hypothalamic hamartoma in a patient surviving to late middle age

Wolman, Lionel; Balmforth, G. V.

doi:10.1136/jnnp.26.3.275

Cited by 36 publications

(4 citation statements)

References 24 publications

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“…We are not aware of any reports that relate the results of postmortem examination since 1963. 18,19 The reader is referred to papers by Takeuchi et al and Coons et al for detailed reviews of published autopsy reports. 20,21 Because of this, the precise anatomic relationship between HH lesions and normal brain remains elusive.…”

Section: Gross Pathologymentioning

confidence: 99%

“…25 HH lesions have a thin circumferential layer of myelinated fibers in the peripheral (subependymal) region of the tissue mass. 19,21,26,27 This subependymal band (or shell) of myelinated processes can often be visualized on high-resolution T 2 -weighted MRI (see Fig. 1), but the features of this aspect of HH microanatomy have not been systematically studied.…”

Section: Gross Pathologymentioning

confidence: 99%

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Hypothalamic hamartoma: Neuropathology and epileptogenesis

et al. 2017

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Hypothalamic hamartomas (HHs) are congenital malformations of the ventral hypothalamus resulting in treatment-resistant epilepsy and are intrinsically epileptogenic for the gelastic seizures that are the hallmark symptom of this disorder. This paper reviews the neuropathologic features of HHs associated with epilepsy, with an emphasis on characterizing neuron phenotypes and an ultimate goal of understanding the cellular model of ictogenesis occurring locally within this tissue. We also present previously unpublished findings on Golgi staining of HH. The microarchitecture of HH is relatively simple, with nodular clusters of neurons that vary in size and abundance with poorly defined boundaries. Approximately 80-90% of HH neurons have an interneuron-like phenotype with small, round soma and short, unbranched processes that lack spines. These neurons express glutamic acid decarboxylase and likely utilize γ-aminobutyric acid (GABA) as their primary neurotransmitter. They have intrinsic membrane properties that lead to spontaneous pacemaker-like firing activity. The remaining HH neurons are large cells with pleomorphic, often pyramidal, soma and dendrites that are more likely to be branched and have spines. These neurons appear to be excitatory, projection-type neurons, and have the functionally immature behavior of depolarizing and firing in response to GABA ligands. We hypothesize that the irregular neuronal clusters are the functional unit for ictogenesis. Further research to define and characterize these local networks is required to fully understand the cellular mechanisms responsible for gelastic seizures.

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Section: Gross Pathologymentioning

confidence: 99%

Section: Gross Pathologymentioning

confidence: 99%

Hypothalamic hamartoma: Neuropathology and epileptogenesis

et al. 2017

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“…The pathogenesis of these peculiar symptoms is still not clear. In the case of sexual precocity, it has been speculated that the local pressure [1, 9], abnormal neuronal connections [10], an independent endocrine activity [11, 12]or a combination of these may play a role.…”

Section: Discussionmentioning

confidence: 99%

Hypothalamic Hamartoma with Precocious Puberty

Shenoy¹,

Raja²

2004

Pediatr Neurosurg

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Hypothalamic hamartoma is a rare congenital nonneoplastic heterotopia consisting of neurons, glial cells and fiber bundles. Clinically, most patients with hypothalamic hamartomas present with precocious puberty and/or gelastic epilepsy. We report an interesting case of hypothalamic hamartoma causing precocious puberty in a young male. The lesion was excised totally through frontotemporal craniotomy and transSylvian approach without any added morbidity.

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“…They present with bursts of laughter concomitant with generalized tonic–clonic or atonic seizures that are difficult to treat with antiepileptic drugs ( 3 ). In addition, HH may lead to precocious puberty ( 4 ). Psychiatric comorbidities and cognitive impairments are also common phenomena in HH patients ( 5 ).…”

Section: Introductionmentioning

confidence: 99%

Advances in hypothalamic hamartoma research over the past 30 years (1992–2021): a bibliometric analysis

et al. 2023

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BackgroundHypothalamic hamartoma (HH) is a rare intracranial disease whose manifestations include gelastic seizures and precocious puberty. The diagnosis and treatment of HH have changed substantially over the past three decades as medical care has improved. Bibliometrics can reveal the evolution and development of a scientific field.MethodsDocuments on HH were retrieved from the Web of Science Core Collection (WoSCC) database on September 8, 2022. The search terms were as follows: “hypothalamic hamartoma” or “hamartoma of the hypothalamus” or “hypothalamic hamartomas.” The types of documents were restricted to articles, case reports, and reviews. VOSviewer, CiteSpace, and the R package “bibliometrix” were used for a bibliometric analysis.ResultsA total of 667 independent documents on HH were obtained from the WoSCC database. The most common types of documents were articles (n = 498, 75%) and reviews (n = 103, 15%). The number of annual publications fluctuated but showed an upward trend overall, and the annual growth rate was 6.85%. The cumulative publication data indicated that the most influential journals in the HH field include Epilepsia, Epileptic Disorders, Child’s Nervous System, Neurosurgery, and the Journal of Neurosurgery. Kerrigan JF, Ng YT, Rekate HL, Regis J, and Kameyama S were among the most prominent authors in the field of HH, with numerous publications and citations. American research institutions, especially the Barrow Neurological Institute, occupied a pivotal position in HH research. Other countries and institutions were catching up and producing considerable research results. Research on HH has steadily switched its emphasis from Pallister-Hall syndrome (PHS) and precocious puberty to epilepsy and new diagnostic and therapeutic techniques, including Gamma Knife, laser ablation, and interstitial thermal therapy.ConclusionHH remains a special neurological disease with significant research prospects. The development of novel technologies, including MRI-guided laser-induced thermal therapy (MRg-LiTT) and stereotactic radiofrequency thermocoagulation (RF-TC), has enabled the efficient treatment of gelastic seizures in HH while minimizing the risks associated with craniotomies. Through bibliometric analysis, this study points out the direction for future HH research.

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Precocious puberty due to a hypothalamic hamartoma in a patient surviving to late middle age

Cited by 36 publications

References 24 publications

Hypothalamic hamartoma: Neuropathology and epileptogenesis

Hypothalamic hamartoma: Neuropathology and epileptogenesis

Hypothalamic Hamartoma with Precocious Puberty

Advances in hypothalamic hamartoma research over the past 30 years (1992–2021): a bibliometric analysis

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