Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on the floor of the third ventricle. (wikipedia.org)
Pulmonary hamartoma is the most commonly resected benign neoplasm of lung. (bvsalud.org)
Diagnosis2
Tuber cinereum hamartoma may be associated with Pallister-Hall syndrome, a diagnosis characterized by multiple malformations, including polydactyly and imperforate anus. (wikipedia.org)
A diagnosis of mesenchymal cystic and chondroid hamartoma was ultimately rendered. (bvsalud.org)
Lesions1
Gelastic epilepsy has been more classically associated with sessile lesions and precocious puberty reported with pedunculated morphology. (wikipedia.org)
Patients2
More recent epidemiologic studies have found these associations to be less consistent, with gelastic epilepsy predominant in the majority of patients regardless of morphology. (wikipedia.org)
citation needed] Hypothalamic hamartomas are found in 33% of patients with true precocious puberty. (wikipedia.org)
Occurs1
Formation occurs during embryogenesis, typically between days 33 and 41 of gestation. (wikipedia.org)
Case3
A case of hamartoma has also been reported to secrete CRH, causing excessive ACTH production. (wikipedia.org)
We report an extremely rare case of a synchronous left chest wall and left maxillary sinus chondromesenchymal hamartoma in a toddler female. (bvsalud.org)
This case is the first reported synchronous chest wall and maxillary sinus chondromesenchymal hamartoma. (bvsalud.org)
Hypothalamic hamartoma4
Two children are presented who have a distinct syndrome of multiple buccolingual frenula, a stiff and short fifth finger with small nails, a hypothalamic hamartoma, mild to moderate neurological impairment, and mild endocrinological symptoms. (bvsalud.org)
This syndrome appears to be distinct from the inherited Pallister-Hall syndrome associated with GLI3 variants, which is characterized by hypothalamic hamartoma, mesoaxial polydactyly, and other anomalies. (bvsalud.org)
It remains unclear whether these two individuals represent a separate nosologic entity or if they represent a milder manifestation of one of the more severe syndromes associated with a hypothalamic hamartoma. (bvsalud.org)
GLI3-related Pallister-Hall syndrome (GLI3-PHS) is characterized by a spectrum of anomalies ranging from polydactyly, asymptomatic bifid epiglottis, and hypothalamic hamartoma at the mild end to laryngotracheal cleft with neonatal lethality at the severe end. (nih.gov)
Tumor4
Tuber cinereum hamartoma is a benign tumor in which a disorganized collection of neurons and glia accumulate at the tuber cinereum of the hypothalamus on the floor of the third ventricle. (wikipedia.org)
The hamartomas are along the inner retina but lead to prominent retinal dragging, corkscrew retinal vessels, gray-green appearance and tumor formation. (viquepedia.com)
Anesthetic considerations for adults with Bannayan-Riley-Ruvalcaba syndrome, part of the PTEN (phosphatase and tensin homolog) hamartoma tumor syndrome, are not well described. (bvsalud.org)
Epidermal nevi have also been classified as "hamartomas", a rather vague and ambiguous term for benign tumor-like malformations that can affect any area of the body. (skincarehealthcenter.com)
Tuber3
Tuber cinereum hamartoma may be associated with Pallister-Hall syndrome, a diagnosis characterized by multiple malformations, including polydactyly and imperforate anus. (wikipedia.org)
In the T.V. series Prison Break, Sara Tancredi tells Michael Scofield that he suffers from Tuber cinereumhamartoma at the end of the tenth episode of Season 4. (wikipedia.org)
It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. (nih.gov)
Classically1
Gelastic epilepsy has been more classically associated with sessile lesions and precocious puberty reported with pedunculated morphology. (wikipedia.org)
Retina2
Neurofibromatosis type 2 displays three important ophthalmologic findings, notably posterior subcapsular cataract in childhood, combined hamartoma of the retina and retinal pigment epithelium, and epiretinal membranes. (viquepedia.com)
Epiretinal membranes and combined hamartoma of the retina and retinal pigment epithelium can have overlapping clinical phenotype and can be multifocal. (viquepedia.com)
Autosomal3
Autosomal Dominant Polycystic Kidney Disease (ADPKD) Polycystic kidney disease (PKD) is a hereditary disorder of renal cyst formation causing gradual enlargement of both kidneys, sometimes with progression to renal failure. (msdmanuals.com)
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. (nih.gov)
Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. (nih.gov)
Congenital1
The clinical differential diagnoses included a congenital melanocytic nevus (CMN), a large café au lait macule (CALM), and a Becker's nevus with a congenital smooth muscle hamartoma. (bvsalud.org)
Polydactyly1
In the individuals described here, manifestations outside of the central nervous system were milder and the mesoaxial polydactyly, which is common in individuals with Pallister-Hall syndrome, was absent. (bvsalud.org)
Severe1
Neurologic symptoms are less severe in Pallister-Hall than in isolated cases of hamartoma. (wikipedia.org)
Low density non-enhancing areas have been reported involving areas of the … Tuberous sclerosis with multiple angiomyolipomas is a relatively common occurence. (cindyandwendy.com)
Tuberous sclerosis complex is a dominantly inherited genetic disorder in which tumors (usually hamartomas) develop in multiple organs. (msdmanuals.com)
The clinical, psychometric, imaging, and electroencephalographic features of 13 adult patients with subependymal heterotopia and epilepsy have been reviewed. (cindyandwendy.com)
2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al. (nih.gov)
Disorder3
The classic presentation is gelastic or laughing epilepsy, a disorder characterized by spells of involuntary laughter with interval irritability and depressed mood. (wikipedia.org)
In the recent past, the term was used to denote a specific disorder now known as Schimmelpenning syndrome. (skincarehealthcenter.com)
However, it is inappropriate to use these terms to denote a single disorder or interchangeably with epidermal nevus syndromes. (skincarehealthcenter.com)
Findings1
We will discuss the MRI protocol and the typical findings in the most common epilepsy-associated diseases. (radiologyassistant.nl)
Medication2
OBJECTIVES: The utility of intraoperative electrocorticography (ECoG)-guided resective surgery for pediatric long-term epilepsy-associated tumors (LEATs) with antiseizure medication (ASM) resistant epilepsy is not supported by robust evidence. (rare-cancer.org)
METHODS: From June 2020 to January 2022, 42 patients (17 children and 25 adults) with LEATs and antiseizure medication (ASM)-resistant epilepsy were randomly assigned to one of the 2 groups (ECoG or no ECoG), prior to surgical resection. (rare-cancer.org)
Periventricular1
Recent studies have shown that mutations in mitogen-activated protein kinase kinase kinase-4 (Mekk4), an indirect interactor with FlnA, also lead to periventricular nodule formation in mice (Sarkisian et al. (cindyandwendy.com)
Disorders3
However, the term epidermal nevus syndrome could be correctly applied to several different disorders. (skincarehealthcenter.com)
Therefore, the umbrella term "epidermal nevus syndromes" now represents a group of distinct disorders that have in common the presence of one of the various types of epidermal nevi. (skincarehealthcenter.com)
A case of hamartoma has also been reported to secrete CRH, causing excessive ACTH production. (wikipedia.org)
Acute hemorrhagic leukoencephalitis, also known as Weston-Hurst syndrome, is an excessive immunological response of unknown etiology. (cindyandwendy.com)
Found2
citation needed] Hypothalamic hamartomas are found in 33% of patients with true precocious puberty. (wikipedia.org)
Hamartomas" are composed of mature cells and tissue normally found in the affected area. (skincarehealthcenter.com)
Abnormalities1
Endocrine abnormalities such as vitamin D-resistant rickets have been associated with Schimmelpenning syndrome. (skincarehealthcenter.com)
The term "epidermal nevus syndrome" has generated significant controversy and confusion in the medical literature. (skincarehealthcenter.com)
Organoid nevus syndrome is a general term that could be applied to at least five different types of ENS. (skincarehealthcenter.com)
Is intraoperative electrocorticography (ECoG) for long-term epilepsy-associated tumors (LEATs) more useful in children? (rare-cancer.org)
Children1
Instead, these children had multiple buccolingual frenula together with the unusual appearance of the fifth digit. (bvsalud.org)
Young age1
Neurofibromatosis type 2 can be associated with reduced life span secondary to central nervous system tumors, particularly if they are present at a young age and are multiple. (viquepedia.com)