Hypothalamic Hamartoma

Hypothalamic hamartoma (HH) is a rare benign (noncancerous) tumor located in the Hypothalamic hamartoma of the brain. Children, teens and adults with HH may experience seizures, precocious puberty, have difficulty with memory and learning and severe behavior problems such as outbursts of rage. The experienced neurosciences team at Cook Children's are well-versed in diagnosing and treating this condition, working closely with the patient and family to manage any lifelong symptoms.

Because HH is not easily diagnosed, the exact number of HH cases worldwide is unknown. However, it is estimated that HH affects approximately 1 in 200,000 children and teens.

The cause of HH is not known, though studies suggest that it may be due to a somatic mutation in the GL 13 gene. Currently, treatment and care are focused not only on the cause, but on the symptoms caused by this disorder. Those symptoms can be extremely challenging for the patient, family members, loved ones and other caregivers. The goal of the HH team at Cook Children's is to create a treatment plan to remove as many limitations as we can to help your child have the best chance of an active and full life.

Symptoms of HH start very early in life and can be mild to severe. Some people never experience symptoms, or they are so mild that they go unnoticed. Others may have severe symptoms such as daily or even round-the-clock seizures and other issues. The most common symptoms are gelastic seizures and dacrystic seizures.

Called "laughing seizures," gelastic seizures appear to be episodes of spontaneous or uncontrolled laughing, giggling or smirking.

Dacrystic seizures, on the other hand, appear as bouts of crying.

• Other symptoms that may appear can include:
• Cognitive impairments
• Hypothalamic rages
• Behavioral and emotional difficulties
• Endocrine or hormonal disturbances
• Precocious puberty
• Pallister-Hall syndrome

In very young children and babies, these symptoms can sometimes be incorrectly diagnosed as colic, acid reflux, irritable bowel syndrome (IBS) or tantrums.

Because of the complexity of HH symptoms, it is important that your child's testing is performed by a neurologist specializing in HH diagnosis and treatment.

The doctor will review your child's medical history and family medical history and perform a thorough physical exam.

Because HH tumors or lesions occur deep in the brain, an MRI is performed and reviewed our team highly specialized neurologists. They are trained and extremely skilled in detecting these deep and sometimes small lesions.

There are two types of HH: sessile, which means the tumor or lesion has no stalk, and pedunculated, which means the tumor is attached by a stalk. What type of HH your child is diagnosed with will determine his or her treatment plan.

Thanks to the wonderful advancements in medicine over last few years, treatment options for children diagnosed with HH have increased dramatically. Your doctor will discuss with you your child's symptoms and diagnosis and recommend treatment options that offer your child the best long-term benefits, such as:

• Antiepileptic medications may help to ease some symptoms.
• Minimally invasive MRI-guided laser ablation surgery
• Vagus nerve stimulation (VNS)
• Ketogenic diet

Your doctor will also talk with you about any associated risks so that you can make decisions regarding your child's care and treatment that are the most comfortable for you, your child and your family.