Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: a new association

Alikchanov, Alikchan A; Петрухин, А. С.; Мukhin, K. Yu.; Nikanorov, Alexander Yu

doi:10.1016/s0387-7604(98)00015-1

Cited by 8 publications

(10 citation statements)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The characteristics of this patient together with 19 additional published cases showing similar features are summarized in Table I [Marcuse et al, 1953;Rosen and Gitlin, 1959;Gitlin and Behar, 1960;Hall et al, 1980;Winter et al, 1982;Hennekam et al, 1986;Anyane-Yeboa et al, 1987;Iafolla et al, 1989;Golabi et al, 1991;Encha-Razavi et al, 1992;Kuller et al, 1992;Verloes et al, 1992Verloes et al, , 1995Ryals et al, 1993;Alikchanov et al, 1998;Rossiter et al, 2000;Vandenhaute et al, 2000;Akman et al, 2002;Gulati et al, 2002;Kizilkilic et al, 2005;Saxonhouse et al, 2005]. Some of these patients had been considered examples of PHS, Meckel, or hydrolethalus syndromes [Hall et al, 1980;Anyane-Yeboa et al, 1987;Encha-Razavi et al, 1992;Kuller et al, 1992], although this conclusion was not supported by published diagnostic criteria [Salonen and Herva, 1990;Biesecker et al, 1996;Salonen and Paavola, 1998].…”

Section: Discussionmentioning

confidence: 88%

“…Four cases manifested classic HPE (alobar, semilobar, or lobar) with or without micro/ anophthalmia, plus multiple additional findings in non-contiguous structures and early lethality [Hennekam et al, 1986;Anyane-Yeboa et al, 1987;Kuller et al, 1992;Verloes et al, 1992]. Five patients with microforms of HPE (i.e., cleft palate, single central medial incisive, agenesis of the corpus callosum, or abnormal pituitary gland) had no additional feature [Winter et al, 1982;Ryals et al, 1993;Alikchanov et al, 1998;Kizilkilic et al, 2005;Saxonhouse et al, 2005]. Death rate was high at birth and within the first month (47%), decreasing after the first year of life (7%).…”

Section: Clinical Spectrummentioning

confidence: 99%

“…In 1992, Verloes and colleagues classified patients with HH and additional findings in (i) syndromal HH, (ii) HH plus frontonasal dysplasia, or (iii) plus holoprosencephaly (HPE), and grouped these conditions in the ''cerebro-acrovisceral early lethality complex.'' The association of HH with HPE and, more rarely, with frontonasal dysplasia has been reported only in 19 patients till date [Marcuse et al, 1953;Rosen and Gitlin, 1959;Gitlin and Behar, 1960;Hall et al, 1980;Winter et al, 1982;Hennekam et al, 1986;Anyane-Yeboa et al, 1987;Iafolla et al, 1989;Encha-Razavi et al, 1992;Kuller et al, 1992;Verloes et al, 1992Verloes et al, , 1995Ryals et al, 1993;Alikchanov et al, 1998;Rossiter et al, 2000;Vandenhaute et al, 2000;Akman et al, 2002;Gulati et al, 2002;Kizilkilic et al, 2005;Saxonhouse et al, 2005]. These features may be explained by a disruptive sequence, secondary to a neoplasm forming as early as the 3rd week of gestation [Iafolla et al, 1989;Verloes et al, 1992].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Castori

Douzgou

Silvestri

et al. 2007

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report on a 23-week fetus with a hypothalamic hamartoma, lobar holoprosencephaly, right anophthalmia, and facial asymmetry, features which are consistent with the holoprosencephaly-diencephalic hamartoblastoma (HDH) association. In an attempt to better delineate HDH, we reviewed 19 published patients with similar features. The HDH clinical spectrum ranges from classic holoprosencephaly with micro/anophthalmia, multiple additional findings in non-contiguous structures and early lethality, to isolated microforms of holoprosencephaly. Associated cephalic features mainly include cortical/neuronal migration defects (39%), meningeal anomalies (28%), brainstem/posterior fossa malformations (22%), dysmorphic ears (41%), facial asymmetry (35%), and hypoplastic mandible (29%). Fifty-three percent of patients have additional extra-cephalic malformations, for example, vertebral/rib segmentation defects (50%), hypo/aplastic lungs (38%), congenital heart defect (29%), and urinary anomalies (29%). HDH shows etiological heterogeneity, that is, teratogenic exposure, chromosome imbalances, autosomal recessive as well as dominant "de novo" mutations. Several features could directly result from a disruptive sequence caused by an early hamartoma which alters the development of forebrain, hindbrain, meninges, and 1st-2nd branchial arches, although the pleiotropic action of genetic/environmental factors cannot be excluded. HDH does not emerge as a distinct syndrome, but other hypotheses, including separate conditions within a common pathway and the developmental field defect theory, are discussed.

show abstract

Section: Discussionmentioning

confidence: 88%

Section: Clinical Spectrummentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Castori

Douzgou

Silvestri

et al. 2007

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…Several studies have postulated that the deterioration of seizures with EEG abnormalities may be a form of secondary epileptogenesis or a ‘kindling effect’ in the neocortex ( 13 ). Although oxcarbazepine, carbamazepine, topiramate, valproic acid and levetiracetam were frequently used to control GSs, previous studies on HH combined with complete ACC used conservative treatments and the number of general seizures decreased by 75% using anticonvulsant therapy ( 4 , 5 ). However, in this case we were unable to decrease the number of refractory seizures using anticonvulsant therapy which may be due to the differences between partial and complete ACC as complete ACC theoretically inhibits ictal electrical impulses transmitted to the other side of the brain.…”

Section: Discussionmentioning

confidence: 99%

“…To the best of our knowledge, only HHs associated with complete ACC have been reported ( 4 , 5 ). No studies regarding partial ACC associated with HH have been reported with surgical outcomes, which may have different symptoms and underlying mechanisms compared with HHs associated with complete ACC.…”

Section: Introductionmentioning

confidence: 99%

Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature

Cheng

Sun

et al. 2013

Experimental and Therapeutic Medicine

View full text Add to dashboard Cite

Gelastic epilepsy has been reported to originate from various conditions, particularly from hypothalamic hamartoma (HH). In the present study, we report a patient with gelastic seizures (GSs), followed by complex partial and tonic-clonic seizures. Magnetic resonance imaging (MRI) revealed a rare combination of HH and partial agenesis of the corpus callosum (ACC). Following resectioning of the HH, the seizures were reduced, but not fully controlled, with medication by the one year follow-up. HH and partial ACC patients may experience seizures; the seizures in the case presented in this study may have originated from HH, partial ACC or both. Considering the fact that seizure frequency reduced following surgery, they may have mainly occurred from HH. Additionally it was considered to be likely that the seizures following surgery were due to secondary epileptogenesis, partial ACC, or both.

show abstract

Effects of hydroxyapatite additive content on the bioactivity and biomechanical compatibility of bioactive nano‐titania ceramics

Yang

et al. 2007

J Biomedical Materials Res

View full text Add to dashboard Cite

Bioactive nano-titania ceramics with excellent biomechanical compatibility and bioactivity were prepared by using hydroxyapatite (HA) additive as grain growth inhibitor with different contents. After sintered at 1000 degrees C with pressureless sintering method, the grain size of nano-titania ceramic was less than 70 nm. Mechanical test results showed that compressive strengths of the nano ceramics were from 137.5 to 275.6 MPa, elastic moduli from 7 to 8 GPa, and bending strengths from 38.67 to 111.96 MPa by increasing HA additive content from 1 to 20%. The mechanical properties of nano-titania ceramics were analogous to that of the human bone. The content of HA additive played an important role in adjusting the grain/particle size of nano-titania ceramics, which had a great effect on the osteoblasts proliferation in the cell culture experiments. The cell culture experiments also demonstrated that the bioactive HA additive itself also had a great effect on the cytocompatibility of the nano-titania ceramics. The results of the present study indicated that the content of HA additive not only had effect on the bioactivity of the nano-titania ceramics because of the bioactivity of the additive itself, but also had effect both on the biomechanical compatibility and bioactivity of the nano-titania ceramics by adjusting the grain/particle size of the ceramics.

show abstract

Gelastic epilepsy, hypothalamic hamartoma, precocious puberty, and agenesis of the corpus callosum: a new association

Cited by 8 publications

References 4 publications

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Reassessment of holoprosencephaly–diencephalic hamartoblastoma (HDH) association

Gelastic epilepsy in combination with hypothalamic hamartoma and partial agenesis of the corpus callosum: A case report and review of the literature

Effects of hydroxyapatite additive content on the bioactivity and biomechanical compatibility of bioactive nano‐titania ceramics

Contact Info

Product

Resources

About