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Hypothalamic Hamartoma
Taxonomy Code: YF-3000.3900
A condition that is characterized by rare, tumor-like malformations that occur in the brain during fetal development and are present at birth. They are non-progressive lesions that do not expand, spread or metastasize to other locations, and grow in proportion to normal brain growth so their size relative to the rest of the brain is the same for the lifetime of the patient. The type and severity of symptoms varies widely from patient to patient and may include abnormally early onset of puberty which occurs in children as young as one to three years of age and epilepsy and related neurobehavioral symptoms. For girls, physical signs of central precocious puberty include breast development and the appearance of mature-appearing pubic and axillary hair. For untreated girls, menses (first menstrual bleeding) will follow. For boys, physical signs begin with testicular growth, followed by enlargement of the penis and maturation of the scrotum, with the development of pubic and axillary hair. Associated features include deepening of the voice and acne. Children with hypothalamic hamartoma may also develop a form of epilepsy whose first symptoms are gelastic (laughing) or dacrystic (crying) seizures that often emerge during infancy. Associated symptoms can include developmental delay, cognitive deterioration and psychiatric symptoms such as rage behaviors. For some patients, HH can be a progressively disabling condition. For others, symptoms may be stable and represent little or no disability.
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