Fetal MRI of a Hypothalamic Hamartoma in Pallister-Hall Syndrome

Celedin, Stefan; Kau, Thomas; Gasser, Johann; Kraschl, Raimund; Sinzig, Maria

doi:10.1016/j.pediatrneurol.2009.08.003

Cited by 16 publications

(12 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…These developmental malformations can be diagnosed incidentally during routine autopsy and even in utero. 1,25,89 They frequently present with a variety of neurological and endocrine disturbances. In its most debilitating form, a progressive epileptic encephalopathy appears during early childhood.…”

mentioning

confidence: 99%

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Mittal

Montes

et al. 2013

FOC

View full text Add to dashboard Cite

Hypothalamic hamartomas are uncommon but well-recognized developmental malformations that are classically associated with gelastic seizures and other refractory seizure types. The clinical course is often progressive and, in addition to the catastrophic epileptic syndrome, patients commonly exhibit debilitating cognitive, behavioral, and psychiatric disturbances. Over the past decade, investigators have gained considerable knowledge into the pathobiological and neurophysiological properties of these rare lesions. In this review, the authors examine the causes and molecular biology of hypothalamic hamartomas as well as the principal clinical features, neuroimaging findings, and electrophysiological characteristics. The diverse surgical modalities and strategies used to manage these difficult lesions are outlined in the second article of this 2-part review.

show abstract

mentioning

confidence: 99%

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Mittal

Montes

et al. 2013

FOC

View full text Add to dashboard Cite

show abstract

“…Hypothalamic hamartomas associated with suprasellar cysts are rare and there has been only one other report of such a diagnosis made on fetal MRI. There has also been one case report of a cystic hypothalamic hamartoma on fetal MRI. The location of arachnoid cysts associated with a hypothalamic hamartoma appears to show some correlation with age, with reports of cysts located in the suprasellar region in the very young (5 years and under) and in the middle cranial fossa in older patients.…”

mentioning

confidence: 88%

Fetal hypothalamic hamartoma with suprasellar arachnoid cyst

Tang

Chang

Hwang

et al. 2012

Ultrasound in Obstet & Gyne

View full text Add to dashboard Cite

We report two cases of hypothalamic hamartoma associated with suprasellar cysts that were diagnosed by fetal magnetic resonance imaging (MRI) in our institution.In the first case, a 34-year-old woman, gravida 3 para 1, presented in the first trimester of pregnancy. She had undergone termination of a previous pregnancy because of midline fetal abnormalities (cleft lip and palate and absent cavum septi pellucidi, with normal karyotype). Ultrasound examination at 20 weeks' gestation showed a 6.4 × 5.2-mm cyst anterior to the cerebellum. Fetal MRI at 21 weeks' gestation showed a central suprasellar arachnoid cyst anterior to the midbrain with a 4-mm thick Termination of pregnancy was carried out at 22 weeks' gestation. Postmortem examination confirmed the presence of a 2 × 2 × 1-cm mass arising from the hypothalamus, extending down in front of the midbrain and enclosing a cystic space between the cerebral peduncles to which the tumor was adherent but not fused. The fetus had a normal karyotype with no features of Pallister-Hall syndrome on postmortem. We did not test for GLI3.In the second case, a 28-year-old woman at 35 weeks' gestation was referred to our institution after an ultrasound examination detected a 3-cm solid lesion anterior to the brainstem at the circle of Willis, associated with a 1.5-cm cyst. Fetal MRI showed a central arachnoid cyst anterior to the midbrain and a 3.2 × 2.9 × 2.6-cm hypothalamic hamartoma situated anterior to the cyst (Figure 2). This patient was lost to follow-up.Antenatal arachnoid cysts are usually detected in the third trimester, with some detected in the second trimester and at least one reported on first-trimester transvaginal ultrasound 1 . These cysts are commonly located in the supratentorium and can exert a mass effect, giving rise to complications such as ventriculomegaly. In a series of primary arachnoid cysts observed in children, only four out of 67 cases were located near the sella 2 . Congenital arachnoid cysts have been reported in association with abnormalities in chromosomes 9, 14, 18 and the X chromosome, and have also been observed in Pallister-Hall syndrome 3 , an autosomal dominant disorder that comprises hypothalamic hamartoma, pituitary dysfunction, central polydactyly and visceral malformations 4 .Hypothalamic hamartomas associated with suprasellar cysts are rare and there has been only one other report

show abstract

“…Recently, MRI is increasingly being employed as an adjunct to ultrasound, especially in a fetal brain. It allows for better visualization of in utero brain development and intracranial HH [42].…”

Section: Examination Of Laboratory Mrimentioning

confidence: 99%

The diagnosis and management of hypothalamic hamartomas in children

Wang

2016

Chin Neurosurg Jl

View full text Add to dashboard Cite

Hypothalamic hamartoma (HH) is a rare developmental malformation often characterized by gelastic seizures. Recent advances in treating HH have led to dramatic improvements. However, clinical protocol of HH is poorly understood. Since 2002, department Pediatric Neurosurgery of Xinhua Hospital has maintained a multidisciplinary clinical program to evaluate and treat children with HH. This program has provided the opportunity to investigate the management of HH. In this review, we summarize the clinical progress and propose a clear management principle for different HH patients.

show abstract

Fetal MRI of a Hypothalamic Hamartoma in Pallister-Hall Syndrome

Cited by 16 publications

References 4 publications

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Hypothalamic hamartomas. Part 1. Clinical, neuroimaging, and neurophysiological characteristics

Fetal hypothalamic hamartoma with suprasellar arachnoid cyst

The diagnosis and management of hypothalamic hamartomas in children

Contact Info

Product

Resources

About