Living with Congenital hypothalamic hamartoma syndrome
A rare tumor-like growth in the brain's hypothalamus present from birth, which can cause laughing seizures, delay and early puberty.
Understanding Congenital hypothalamic hamartoma syndrome
They usually do not change in size or spread. Symptoms vary a lot. Common ones are gelastic seizures (spontaneous laughing or smirking) or dacrystic seizures (crying), developmental delay and early puberty. Symptoms often start early but are frequently misdiagnosed. For some people, hormone problems are the only symptom.
Signs & symptoms
Symptoms vary from person to person. GARD's summary lists these common ones:
- Laughing seizures (gelastic seizures)
- Crying seizures (dacrystic seizures)
- Developmental delay
- Early puberty (precocious puberty)
- Emotional and behavioral difficulties
- Hormone (endocrine) problems
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Hope for Hypothalamic Hamartomas and Raymond A. Wood Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Expert lists: Hope for Hypothalamic Hamartomas, Raymond A. Wood Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Hope for Hypothalamic Hamartomas and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Most cases occur by chance (sporadic). They can also occur with certain genetic disorders such as Pallister-Hall syndrome. GARD lists autosomal recessive inheritance.
Also known as: hamartoma of hypothalamus; hypothalamic hamartoma; hypothalamic hamartomas; pallister-hall-like syndrome
Patient organizations
- Hope for Hypothalamic HamartomasCongenital hypothalamic hamartoma syndrome · United States
- Raymond A. Wood FoundationCongenital hypothalamic hamartoma syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital hypothalamic hamartoma syndrome.
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