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Episodes of prolonged "trance-like state" in an infant with hypothalamic hamartoma
Rakesh Kumar1, Jaivinder Yadav1, Jitendra Kumar Sahu1
1Department of Pediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Insights
Hypothalamic hamartoma (HH) can cause central precocious puberty (CPP) and seizures. This case highlights an unusual seizure type and the challenges in treating refractory epilepsy with gamma knife surgery.
Area of Science:
- Neurology
- Pediatrics
- Endocrinology
Background:
- Hypothalamic hamartoma (HH) is a common cause of central precocious puberty (CPP) and epilepsy in children.
- Gelastic seizures (GS) are the most frequent seizure type associated with HH, often co-occurring with CPP.
- Treatment of seizures in HH can be challenging, even with multiple antiepileptic drugs.
Purpose of the Study:
- To report a case of hypothalamic hamartoma (HH) presenting with atypical seizures and central precocious puberty (CPP).
- To describe a novel seizure morphology termed "trance-like state" in a patient with HH.
- To evaluate the efficacy of gamma knife surgery for refractory epilepsy in a child with HH.
Main Methods:
- Case report of a pediatric patient with early-onset seizures and CPP.
- Clinical presentation including detailed seizure description and developmental assessment.
- Magnetic resonance imaging (MRI) for diagnosis of hypothalamic hamartoma (HH).
- Gamma knife surgery as a treatment modality for refractory epilepsy.
Main Results:
- The patient presented with a large sessile HH and an atypical "trance-like state" seizure presentation.
- Gelastic seizures (GS) appeared later and were refractory to multiple antiepileptic drugs.
- Gamma knife surgery resulted in a modest reduction in seizure frequency.
- Cognitive and behavioral issues emerged later in the disease course.
Conclusions:
- Hypothalamic hamartoma (HH) can manifest with diverse and atypical seizure types, including prolonged "trance-like states."
- Refractory epilepsy associated with HH may show a modest response to gamma knife surgery.
- Early diagnosis and comprehensive management are crucial for children with hypothalamic hamartoma (HH).
Abstract:
Hypothalamic hamartoma (HH) is one of the most common causes of central precocious puberty (CPP) in first few years of life. It can present with either seizures or CPP, although both manifestations coexist in the majority of the children. Gelastic seizures (GS), or laughing spells, are usually the first type of seizures seen in patients with HH. Although a wide variety of seizure types are known to occur in children with HH, GS are most common and consistent seizure type. The clinical presentation of HH may vary with the size and position of the mass, although large tumours typically present with both CPP and seizures. Although CPP can be managed with medical therapy, seizures can be very difficult to treat, even with multiple antiepileptic drugs. Noninvasive gamma knife surgery has been used with some success for the treatment of refractory epilepsy. We present a case of HH with very early onset seizures and CPP. The patient had an atypical form of seizures described by the parents as a "trance-like state" in which the patient had prolonged episodes of unresponsiveness lasting for hours with normal feedings during the episodes. GS occurred late in the course and were refractory to various combinations of antiepileptic drugs. A brain magnetic resonance imaging showed a large sessile HH (>20 mm). Later in the course of the disease, the patient experienced cognitive and behavioural problems. The patient underwent gamma knife surgery at nearly 5 years of age and experienced a modest response in seizure frequency. This case highlights the presentation of HH as a previously unreported seizure morphology described as a prolonged "trance-like state.".