Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamuspituitary axis, wider endocrine dysfunction may be expected.
Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by presentation (CPP or GS), radiological characteristics and any surgical treatment imposed.
Method: Retrospective-longitudinal review of case notes of children with HH seen at our centre between 1.1.1991 and 31.12.2014.
Results: Over a 14 year period, 34 children (21M:13F) aged 3.97 (±3.5 SD) years were diagnosed with HH and followed for 5.9 (±4.3 SD) years. Fourteen (41.2%) patients each, presented with either GS or CPP and a further 6 (17.6%) were identified incidentally (MRI). Patients presenting with GS tended to be older (4.9 years) than those with CPP (3.1 years) or incidental HH (3.7 years) and all (100%) had sessile hamartomas. By contrast, most HH in CPP (79%) and incidental (83%) groups were pedunculated. 28.6% (4/14) patients with GS developed CPP 3.16 (±2.8 SD) years later at 4.5 (±3.8 SD) years old (in three after surgery). Similarly, 28.6% (4/14) CPP patients were diagnosed with GS (2/4 sessile) 0.57 (±0.41 SD) years later. 32.3% (11/34) patients (ten presenting with GS and one with CPP), all with refractory GS, underwent surgery 3.3 years (±2.6) from diagnosis. At last assessment, half of presenting GS patients had pituitary deficits compared with none of CPP and just 16.6% of incidental. No patient had ACTH or Gonadotropin Deficiency and only 4 (all post-operative) had Central Diabetes Insipidus (CDI), 3 with additional GH deficiency (GHd) and TSH deficiency (TSHd). Obesity (BMI>+2 SD) rates were high, especially in those presenting with CPP (60%) and GS (46%) (vs 20% incidental).
Conclusion: CPP HH (especially if sessile) require routine neurology referral (to exclude occult GS). GS HH require routine endocrine review, especially if surgery contemplated. Routine dynamic pituitary testing (including LHRH) of all HH patients may unmask undiagnosed GHd (or CPP), whilst prompt GH replacement may reduce currently high obesity rates.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology