Hypothalamic Hamartoma

Overview

Hypothalamic hamartoma (HH) describes a benign brain tumour located close to or within the hypothalamus. This part of the brain produces the hormones that control body processes such as thirst, hunger, and sex hormone regulation. HH is associated with a number of features including epilepsy, particularly gelastic (laughing) seizures, behavioural problems and precocious (early) puberty (see entry Premature Sexual Maturation). Symptoms usually start in infancy or early childhood, but the range and severity of these features varies widely between individuals. Because the seizures resemble natural laughter, they may not be recognised as seizures initially, thus delaying a diagnosis of HH. Later in development, a child with HH may start to show outbursts of aggression and rage (often referred to as hypothalamic rage) and poor social adjustment. Increasing problems with learning often occur, and some HH children display signs of autism. The seizures resulting from HH can be difficult to control with medication, and surgery to remove the HH is often problematic, although there are new and more promising techniques being developed, including endoscopic and radiosurgery, and surgical disconnection of the tumour. In most cases, HH occurs sporadically (by chance), though some people with HH are affected by Pallister-Hall syndrome. Diagnosis of a HH might be possible on antenatal ultrasound, but would need to be confirmed using magnetic resonance imaging (MRI).

This overview is intended to be a basic description of the condition. It is not intended to replace specialist medical advice. We advise that you discuss your child’s case with a qualified medical professional who will be able to give you more detailed information.

Credits

Medical text approved November 2013 by Dr Jenny Fisken (retired), formerly Associate Specialist in Community Paediatrics, North Yorkshire and York PCT.

Is there support?

There is no support group in the UK for Hypothalamic Hamartoma. Families can use Contact’s freephone helpline for advice, information and, where possible, links to other families. You can also meet other families online in our closed Facebook group