An Undiagnosed Case of Hypothalamic Hamartoma with a Rare Presentation

Abstract

Background. Hypothalamic hamartomas (HHs) are rare tumor-like malformations that may present with complex partial seizures refractory to anticonvulsants in adulthood. The condition may be misdiagnosed because of rarity. Case Presentation. We report a 25-year-old man with complaint of seizures presented by falling, tonic spasm of limbs, oral automatism, vocalization, and hypermotor activities. His seizures started at the age of one month and presented as eye deviation and upper limbs myoclonic jerk, followed by frequent seizures with variable frequency. The patient had delayed developmental milestones and was mentally retarded. He was hospitalized and underwent video-EEG monitoring and neuroimaging, and the diagnosis of HH was made. The patient became candidate for surgery after that. Conclusion. In this case, the underlying etiology of seizures was diagnosed after 25 years. HH is a rare condition and neurologists may encounter very small number of these cases during their practice. Therefore, they should consider it in patients who present with suspected signs and symptoms.

MR imaging of hypothalamic hamartoma in a patient with gelastic seizures

“…MRI plays a crucial role in differentiating the subtypes of HH and it provides the clinician with detailed anatomical information. The most commonly used classification is morphological, which divides the hamartomas into sessile and pedunculated types [5] . These two subtypes have distinct clinical presentations.…”

“…These two subtypes have distinct clinical presentations. Patients with the pedunculated (parahypothalamic) type usually develop precocious puberty between the age of 3 months and 9 years old [5] . No behavioral dysfunction, mental retardation, or other neurological symptoms are seen in this type of HH.…”

“…The hyperintensity demonstrated on T2-weighted images in small hamartomas may result in decreased conspicuity of the hamartoma [7 , 8 , 9] . The sagittal plane is important to evaluate the extension through, or displacement, of the floor of the third ventricle, which would enable differentiation of HH subtypes [5] . Sessile HHs have a partial or complete base of attachment that is within the third ventricle.…”

“…Gelastic seizure is the most common seizure semiology that occurs in the sessile type of HH. These seizures are seldom accompanied by altered consciousness in infancy but may alter the consciousness in older patients [5] . It usually presents as a short, stereotypical, and frequent episodes of unprovoked laughter.…”