Symptoms

Hypothalamic Hamartoma | Diagnosis | Treatment

The most common symptoms are frequent daily gelastic seizures (spontaneous laughing, giggling and/or smirking) or dacrystic seizures (crying or grunting); developmental delays; and/or precocious puberty. These symptoms often start early in life – for some, they become apparent shortly after birth. Some individuals can go years with very few symptoms, or ones that are so mild, they are often missed by both parents and medical professionals. Others experience severe daily and even round the clock debilitating seizures and other symptoms.

GELASTIC & DACRYSTIC SEIZURES
Gelastic seizures are called the “laughing seizure” because they may look like bouts of uncontrolled laughter or giggling. However, the laughter-like sounds are often forced and combined with a facial contraction similar to a smile or smirk. In some children, the vocalization has a crying quality and the facial contraction resembles a grimace. These crying seizures are called dacrystic seizures.

COGNITIVE IMPAIRMENTS

Individuals with seizures due to HH commonly display a wide range of cognitive impairments. Impairments may range from slight to severe. Most prevalent are problems with working memory, long-term retrieval, and processing speed, as well as visual and verbal learning and memory. The exact relationship between cognitive ability and the influence of seizure type, frequency, and onset is not well understood. There have been reported cases of patients with gelastic seizures and HH with normal cognitive functioning, yet these cases are less common. It is unclear at this point if size and attachment of the HH to the hypothalamus have a direct effect on cognitive functioning.

Compared to children, adults diagnosed later in life appear to have less severe seizures, less severe learning and behavior difficulties, and better occupation and social connections.

HYPOTHALAMIC RAGES & OTHER EMOTIONAL AND BEHAVIORAL DIFFICULTIES

Some children with HH have significant difficulties controlling angry outbursts, aggressive tendencies and are diagnosed with "hypothalamic rages." These rages often can be mistaken for "temper tantrums;" however, they usually happen quickly and without an identifiable cause or provocation. Children with rages have been reported to hit, kick, bite, cry, throw objects, and bang on walls or doors. They may take out their aggression on parents, siblings or other children in a classroom setting. What makes the actions different is that the child typically does not make eye contact or the eyes seem vacant, they initially may not be able to hear any commands, and they often require time and space to calm down. Once the behavior begins to subside, the child may feel tired, and often they will feel distressed at being unable to control their behavior. They often apologize or feel very guilty for what has just occurred. Some parents have reported that their child has no memory of the rage once it is over.

Prior to and even after a correct diagnosis, HH patients may also be diagnosed with oppositional-defiant disorder, attention deficit behavior, autism spectrum disorder, Asperger's disorder, depression, paranoid disorder, and obsessive-compulsive disorder.

ENDOCRINE DISTURBANCES

Some individuals may experience endocrine or hormonal disturbances as a result of HH. Some individuals may experience problems with bed wetting, or symptoms of an extreme or lack of thirst. Many individuals may experience weight gain with or without a voracious appetite (hypothalamic hunger).

PRECOCIOUS PUBERTY
Precocious Puberty can occur in patients with HH. It is defined as unusually early onset of puberty (before age 8 for girls and age 9 for boys). It has been reported as early as infancy, in some cases. Precocious puberty can occur by itself, without seizures, or with (?) other neurological problems.

PALLISTER-HALL SYNDROME

Pallister-Hall syndrome is a less common genetic disorder that affects the development of many parts of the body. Most people diagnosed with this condition have extra fingers and/or toes (polydactyly) and the skin between some fingers or toes may be fused (cutaneous syndactyly). Pallister-Hall can result in an HH that is often large. However, epilepsy occurs less frequently in PHS patients and is reported to be relatively mild compared to individuals with HH alone.

OTHER POTENTIAL DEFICITS OR DELAYS

Many of the unusual symptoms associated with HH make diagnosis difficult. For many families, the initial incorrect diagnoses can include colic, acid reflux, irritable bowel syndrome (IBS), or simply normal behavior for young children.

Research data, as well as family reports, include a variety of other issues possibly associated with HH. Speech and language delays have been reported as well as delays in mobility including deficits in balance, coordination, and walking during early development. Families have also identified poor social skills and limited peer interaction as issues they deal with on a daily basis. Whether this is due to the HH, seizure activity, medications, or other neurological factors is not clear at this time. Further research in these areas is critical to the full understanding of the many complexities of HH.