Neurologic Manifestations of the Organoid Nevus Syndrome

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…Up to 60% of SFMS patients have brain abnormalities, particularly hemimegalencephly, ventriculomegaly, and cortical atrophy (Lantis, Leyden, Thew, & Heaton, ; Lin & Yan, ). Consistently, in our SFMS patients #4 and #5 brain defects were demonstrated, including uncommonly reported anomalies such as polymicrogyria (Clancy et al, ) or arachnoid cyst (Kamate Dumale & Hattiholi, ). Contrarily, intellectual disability, a finding in up to 70% of SFMS cases (Warrenburg et al, ), was absent in our two SFMS probands.…”

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…Up to 60% of SFMS patients have brain abnormalities, particularly hemimegalencephly, ventriculomegaly, and cortical atrophy (Lantis, Leyden, Thew, & Heaton, ; Lin & Yan, ). Consistently, in our SFMS patients #4 and #5 brain defects were demonstrated, including uncommonly reported anomalies such as polymicrogyria (Clancy et al, ) or arachnoid cyst (Kamate Dumale & Hattiholi, ). Contrarily, intellectual disability, a finding in up to 70% of SFMS cases (Warrenburg et al, ), was absent in our two SFMS probands.…”

Hemimegalencephaly and Intractable Epilepsy: Benefits of Hemispherectomy

“…On the other side, the background activity is recognizable, and epileptic abnormalities are few. The peculiarity of this EEG pattern is confirmed by other reports, which term it hemihypsarrhythmia (Tjiam et al, 1978;Kurokawa et al, 1981;Clancy et al, 1985). Martin et al (1981), reported a similar case, classifying it as described by Ohtahara (1978) as "early infantile epileptic encephalopathy with suppression-burst.''…”

First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities

“…ENS has been reported in association with findings such as hemimegaloencephaly, ocular coloboma, ocular dermoid, ocular hemangioma, nephroblastoma, biliary adenoma, hemihypertrophy, cerebral hamartoma and pulmonic stenosis, Dandy-Walker malformation, and vermian hypoplasia amongst several others [7]. Although all three findings have been described separately, this is the first report in which the triad of hamartomas, vermian hypoplasia, and dilation of the 4th ventricle are reported in the same patient.…”

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…Up to 60% of SFMS patients have brain abnormalities, particularly hemimegalencephly, ventriculomegaly, and cortical atrophy (Lantis, Leyden, Thew, & Heaton, ; Lin & Yan, ). Consistently, in our SFMS patients #4 and #5 brain defects were demonstrated, including uncommonly reported anomalies such as polymicrogyria (Clancy et al, ) or arachnoid cyst (Kamate Dumale & Hattiholi, ). Contrarily, intellectual disability, a finding in up to 70% of SFMS cases (Warrenburg et al, ), was absent in our two SFMS probands.…”

Hemimegalencephaly and Intractable Epilepsy: Benefits of Hemispherectomy

“…On the other side, the background activity is recognizable, and epileptic abnormalities are few. The peculiarity of this EEG pattern is confirmed by other reports, which term it hemihypsarrhythmia (Tjiam et al, 1978;Kurokawa et al, 1981;Clancy et al, 1985). Martin et al (1981), reported a similar case, classifying it as described by Ohtahara (1978) as "early infantile epileptic encephalopathy with suppression-burst.''…”

First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities

“…ENS has been reported in association with findings such as hemimegaloencephaly, ocular coloboma, ocular dermoid, ocular hemangioma, nephroblastoma, biliary adenoma, hemihypertrophy, cerebral hamartoma and pulmonic stenosis, Dandy-Walker malformation, and vermian hypoplasia amongst several others [7]. Although all three findings have been described separately, this is the first report in which the triad of hamartomas, vermian hypoplasia, and dilation of the 4th ventricle are reported in the same patient.…”

Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathies

“…Up to 60% of SFMS patients have brain abnormalities, particularly hemimegalencephly, ventriculomegaly, and cortical atrophy (Lantis, Leyden, Thew, & Heaton, ; Lin & Yan, ). Consistently, in our SFMS patients #4 and #5 brain defects were demonstrated, including uncommonly reported anomalies such as polymicrogyria (Clancy et al, ) or arachnoid cyst (Kamate Dumale & Hattiholi, ). Contrarily, intellectual disability, a finding in up to 70% of SFMS cases (Warrenburg et al, ), was absent in our two SFMS probands.…”

Hemimegalencephaly and Intractable Epilepsy: Benefits of Hemispherectomy

“…On the other side, the background activity is recognizable, and epileptic abnormalities are few. The peculiarity of this EEG pattern is confirmed by other reports, which term it hemihypsarrhythmia (Tjiam et al, 1978;Kurokawa et al, 1981;Clancy et al, 1985). Martin et al (1981), reported a similar case, classifying it as described by Ohtahara (1978) as "early infantile epileptic encephalopathy with suppression-burst.''…”

First Reported Case of 'Epidermal Nevus Syndrome' with a Triad of Central Nervous System Deformities

“…ENS has been reported in association with findings such as hemimegaloencephaly, ocular coloboma, ocular dermoid, ocular hemangioma, nephroblastoma, biliary adenoma, hemihypertrophy, cerebral hamartoma and pulmonic stenosis, Dandy-Walker malformation, and vermian hypoplasia amongst several others [7]. Although all three findings have been described separately, this is the first report in which the triad of hamartomas, vermian hypoplasia, and dilation of the 4th ventricle are reported in the same patient.…”