Anomalies of the cerebellar vermis are diagnosed in this manner and include phenotypes consistent with Dandy-Walker malformation, rhombencephalosynapsis, displaying no vermis with fusion of the cerebellar hemispheres, pontocerebellar hypoplasia, or stunted growth of the cerebellum, and neoplasms. (wikipedia.org)
Dandy-Walker malformation is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. (medscape.com)
We report here a patient with HHS characterized by the proband`s clinical attributes, such as growth delay, bone marrow failure, microcephaly, defects in body development, and the absence of cerebellar hypoplasia combined with Blake`s pouch cyst. (turkishjournalpediatrics.org)
Individuals with Hoyeraal-Hreidarsson syndrome (HH) have symptoms of DC plus cerebellar hypoplasia, immunodeficiency, and poor prenatal growth. (emlinhibitor.com)
Along with attributes of DC, the presence of cerebellar hypoplasia is generally the basis for a diagnosis of HH [1]. (emlinhibitor.com)
Gangliocytoma of the cerebellum1
Lhermitte-Duclos disease, so named for French neurologists Jacques Lhermitte and P Duclos after their initial description of the entity in 1920, has undergone a spectrum of growth in pathophysiologic understanding recently and is now considered to be a dysplastic gangliocytoma of the cerebellum, a WHO grade 1 tumor. (henryford.com)
Cerebellum6
The cerebellar vermis (from Latin vermis, "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior fossa of the cranium. (wikipedia.org)
The cerebellum develops in a rostro-caudal manner, with rostral regions in the midline giving rise to the vermis, and caudal regions developing into the cerebellar hemispheres. (wikipedia.org)
Postnatally, proliferation and organization of the cellular components of the cerebellum continues, with completion of the foliation pattern by 7 months of life and final migration, proliferation, and arborization of cerebellar neurons by 20 months. (wikipedia.org)
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. (nih.gov)
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. (nih.gov)
Cerebellar cortex: The outer layer of the cerebellum. (chiariproject.org)
Tumor4
Lhermitte-Duclos disease (LDD), also known system, it is a grade I mixed glioneuronal as dysplastic gangliocytoma of the cere- tumor.2 It usually occurs in patients between bellum, is a rare condition first described by 30 and 50 years of age, both sexes. (bvsalud.org)
A subtotal craniectomy and partial resection of the left cerebellar tumor were performed. (journal-jmsr.net)
Two groups are differentiated, depending on whether the neuronal component is unique (gangliocytoma and dysplastic cerebellar ganglion) or predominant, also presenting an astrocytic tumor population (central neurocytoma and cerebellar liponeurocytoma). (cun.es)
For example, TSC inactivation has been shown to cooperate with non-canonical Smoothened (SMO)-independent Hedgehog (HH) signaling to drive tumor growth in murine cerebellar granule neuron precursors [ 10 ]. (springer.com)
Hemispheres4
This region comprises the vermis and intermediate parts of the cerebellar hemispheres. (wikipedia.org)
The cerebellar hemispheres and brainstem (b) are hypoplastic. (medscape.com)
An axial T2-weighted MRI scan that shows hydrocephalus, a large cerebrospinal fluid cyst in the posterior fossa, thinned occipital bone (arrows), and hypoplastic cerebellar hemispheres with a winged appearance (c). (medscape.com)
Dysplastic cerebellar ganglion or Lhermitte-Duclos disease are rare tumors that almost always originate from the cerebellar hemispheres. (cun.es)
Atrophy2
Childhood-onset neurodegeneration with cerebellar atrophy (CONDCA) is a severe autosomal recessive neurodevelopmental disorder affecting the central and peripheral nervous system. (nih.gov)
Serial brain MRI showed multifocal lesions in right temporal area, left tectum, right cerebellar peduncle thalamus, basal ganglion, and intraventricular cyst in left trigon of the ventricle ( Fig. 1 ). (j-epilepsy.org)
Cortex3
The vermis is intimately associated with all regions of the cerebellar cortex, which can be divided into three functional parts, each having distinct connections with the brain and spinal cord. (wikipedia.org)
It sends fibers to deep cerebellar nuclei that, in turn, project to both the cerebral cortex and the brain stem, thus providing modulation of descending motor systems. (wikipedia.org)
Surgical resection of dysplastic cortex yields good results, but FCDs can be difficult to identify in MRI imaging. (cea.fr)
Vermis2
Mega cisterna magna (see the image below) consists of an enlarged posterior fossa secondary to an enlarged cisterna magna, with a normal cerebellar vermis and fourth ventricle. (medscape.com)
MRI performed during diagnostic work up revealed a bulky mass with cystic component extending from medulla into cervical spinal cord to C5 and dislocating the pons, the floor of the IV ventricle, the cerebellar vermis and tonsils (Figure 1 A). As gross total resection (GTR) was not considered feasible, surgical decompression and a biopsy of the exophitic portion of the lesion were performed revealing a LGG with features compatible with PA. (biomedcentral.com)
Ganglion1
The histological examination of the residual lesion showed the presence, in addition to the glial component, of mature ganglion cells, leading to a diagnosis of ganglioglioma (GG) (Figure 2 ) with classical morphology, i.e. neoplastic astrocytes and ganglion cells with dysplastic, binucleated neuron, embedded in tissue with eosinhophilic granular body and lymphocytic intratumoral infiltrate. (biomedcentral.com)
Oral leukoplakia2
Dyskeratosis congenita (DC), a telomere-related disease, includes the classical triad involving oral leukoplakia, dysplastic nails, and lacy reticular pigment in the neck and/or upper chest. (turkishjournalpediatrics.org)
DC is actually a heterogeneous inherited bone marrow failure syndrome (IBMFS) diagnosed by the presence from the classic triad of dysplastic nails, abnormal skin pigmentation, and oral leukoplakia. (emlinhibitor.com)
Tonsils1
Cerebellar tonsils: Normal downward extensions of each cerebellar hemisphere. (chiariproject.org)
Hydrocephalus3
Tonsillar herniation and hydrocephalus are quite common and are caused by the mass effect of the lesion to the adjacent cerebellar parenchyma. (indianradiology.com)
They usually give rise to clinical symptoms between the third and fourth decades of life that are related to long-standing intracranial hypertension and hydrocephalus or progressive cerebellar syndrome. (cun.es)
1 Growth is slow and there is no reported malignant potential with clinical presentation typically entailing signs of increased intracranial pressure, obstructive hydrocephalus, and cerebellar dysfunction. (henryford.com)
Lesions1
TSC is an autosomal dominant genetic disorder of high penetrance with a prevalence of 1:10,000 [ 1 ] and is characterized by widespread dysplastic and neoplastic lesions [ 2 ]. (springer.com)
Characteristic2
Conclusions: LDD or dysplastic cerebellar gangliocytoma is a rare benign cerebellar mass, probably hamartomatous, with a characteristic aspect magnetic resonance imaging. (journal-jmsr.net)
Subsequently, MRI was performed, demonstrating the characteristic striated morphologic appearance of dysplastic gangliocytoma or so-called Lhermitte-Duclos disease. (henryford.com)
Malformations1
Neurofibromatosis type 1 is commonly combined with various types of malformations, which include hemimegalencephaly, cerebellar leptomeningeal heterotopias, transmantal cortical dysplasia, periventricular band heterotopias, pachygyria, occipital encephalocele and unilateral as well as bilateral polymicrogyria. (j-epilepsy.org)
Disease1
Rx requip generic trials have pre-existing lung disease which interfere with a haematoma in a dysplastic ears, slurring of overall study of the lumpy, yellowish mater. (otherbrotherdarryls.com)
Secondary1
Cerebellar haemorrhage secondary to bleeding cavernoma or AVM? (unict.it)
Mass1
1,2 The MR imaging appearance is considered diagnostic and can obviate biopsy, consisting of a tigroid, striated appearance of the nonenhancing cerebellar mass with superficial bands of alternating T2 hyper- and isointensity to grey matter, iso- and hypointense on T1-weighted imaging, with sporadic calcification reported and minimal loco-regional mass effect. (henryford.com)
Signs1
Physical examination revealed left cerebellar signs. (journal-jmsr.net)
Multicystic dyspla12
f Coronal US image of multicystic dysplastic kidney (MCDK) showing enlarged kidney with several subcortical small cysts. (springeropen.com)
Multicystic dysplastic kidney (MCDK), a variant of renal dysplasia, is one of the most frequently identified congenital anomalies of the urinary tract. (medscape.com)
The role of nephrectomy in the treatment of multicystic dysplastic kidney is controversial. (medscape.com)
Multicystic dysplastic kidney is the most common cause of an abdominal mass in the newborn period and is the most common cystic malformation of the kidney in infancy. (medscape.com)
Kidney, ureter, and bladder (KUB) images of an infant with a right multicystic dysplastic kidney demonstrate displacement of bowel loops away from the right abdomen. (medscape.com)
Multicystic dysplastic kidney is usually asymptomatic and can remain undetected into adulthood. (medscape.com)
Before the advent of fetal ultrasonography, an abdominal mass in the flank of an otherwise healthy newborn was the most common clinical presentation of unilateral multicystic dysplastic kidney. (medscape.com)
A urine sample for dipstick and microscopic analysis should be obtained in patients with suspected multicystic dysplastic kidney. (medscape.com)
The traditional reasons to consider nephrectomy for multicystic dysplastic kidney are to treat or prevent abdominal or flank pain, urinary tract infection, hypertension, or renal malignancy. (medscape.com)
Multicystic dysplastic kidney is a form of renal dysplasia characterized by the presence of multiple, noncommunicating cysts of varying size separated by dysplastic parenchyma and the absence of a normal pelvocaliceal system. (medscape.com)
A brief overview of nephrogenesis is provided to highlight the developmental defects that lead to multicystic dysplastic kidney. (medscape.com)
Rarely observed features include ocular (congenital glaucoma, optic nerve atrophy with eyelid ptosis, heteochromatic iris, posterior embryotoxon), renal (multicystic dysplastic kidney, horseshoe kidneys, unilateral renal agenesis) and anal (anal atresia, anteriorly placed anus malformations) anomalies. (rareguru.com)
Gangliocytoma11
1. Lhermitte-duclos disease (dysplastic cerebellar gangliocytoma): A case report. (nih.gov)
4. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? (nih.gov)
6. Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two diseases. (nih.gov)
7. Radiographic Findings of Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in a Woman with Cowden Syndrome: A Case Study and Literature Review. (nih.gov)
8. Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. (nih.gov)
11. Clinical Perspective on Dysplastic Gangliocytoma of the Cerebellum (Lhermitte-Duclos Disease). (nih.gov)
12. Bilateral Dysplastic Gangliocytoma with Concurrent Polyostotic Fibrous Dysplasia: A Case Report and Literature Review. (nih.gov)
15. Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease). (nih.gov)
16. Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) presenting as a prenatally heterotopic hamartoma. (nih.gov)
18. Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review. (nih.gov)
19. [Cerebellar gangliocytoma in an 11-year-old child]. (nih.gov)
Fourth ventricle1
Mega cisterna magna (see the image below) consists of an enlarged posterior fossa secondary to an enlarged cisterna magna, with a normal cerebellar vermis and fourth ventricle. (medscape.com)
Neoplasms1
Per the 2016 WHO Classification of CNS Tumors, revised 4th ed., gangliogliomas (GGs) are classified as mixed neuronal-glial tumors defined as well-differentiated slow-growing neoplasms composed of dysplastic ganglion cells in combination with neoplastic glial cells. (arkanalabs.com)
Cerebral1
It sends fibers to deep cerebellar nuclei that, in turn, project to both the cerebral cortex and the brain stem, thus providing modulation of descending motor systems. (wikipedia.org)
Neurons1
Postnatally, proliferation and organization of the cellular components of the cerebellum continues, with completion of the foliation pattern by 7 months of life and final migration, proliferation, and arborization of cerebellar neurons by 20 months. (wikipedia.org)
Abnormal2
Chondrodystrophy (CDDY) in dogs is defined by dysplastic (abnormal), shorted long bones (short legs) and premature degeneration and calcification of intervertebral discs. (cagt.co.uk)
Microcephaly and abnormal head computed tomography (CT) scan findings indicative of tissue destruction and dysplastic growth have been associated with increased risk of SNHL among infants with symptomatic congenital CMV disease at birth. (cdc.gov)
Posterior fossa1
The cerebellar vermis (from Latin vermis, "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior fossa of the cranium. (wikipedia.org)