Hypothalamic hamartoma

Kerrigan, John F.

doi:10.1002/9781118936979.ch71

Cited by 1 publication

(2 citation statements)

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“…Hypothalamic hamartoma (HH) is a congenital non-neoplastic lesion of the tuber cinereum consisting of normal brain tissue, such as neurons, glial cells and fibre bundles. It is a rare condition, with an estimated prevalence of 1 in every 50 000–200 000 individuals, which could be an underestimation of its true prevalence 1 2. HH grows in proportion to normal brain growth; therefore, its relative size to the rest of the brain is the same throughout life.…”

Section: Introductionmentioning

confidence: 99%

“…HH grows in proportion to normal brain growth; therefore, its relative size to the rest of the brain is the same throughout life. It does not expand, spread or metastasise to other locations, and is most frequently located at the base of the hypothalamus and the floor of the third ventricle 2. The diagnosis is made by the identification of non-enhancing, isointense or hyperintense lesions on T2-weighted brain MRIs 1…”

Section: Introductionmentioning

confidence: 99%

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Hypothalamic hamartoma: a cause of precocious puberty

Castro

Morais²,

Correia³

et al. 2023

BMJ Case Rep

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Hypothalamic hamartomas are uncommon congenital malformations that present as precocious puberty, gelastic seizures and/or psychiatric disorders. Characteristic changes in MRI scans lead to a diagnosis. Treatment may include surgery or gonadotropin-releasing hormone agonists (GnRHa) depending on clinical manifestations.Here, we describe a case of hypothalamic hamartoma diagnosed in a girl in middle childhood, who presented with early development of secondary sexual characteristics. Physical examination, hormonal study, bone age and pelvic ultrasound findings were consistent with those of precocious puberty. The investigation also included a brain MRI scan, which revealed a small nodule with regular limits in the left hypothalamic region/tuber cinereum. GnRHa treatment and neurosurgical follow-ups were initiated promptly. The patient showed a reversal of secondary sexual characteristics and stable hamartoma size. This case illustrates the importance of brain MRI scans as part of the assessment of suspected precocious puberty because clinical features do not identify patients with an underlying pathology.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%