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Enlarged sylvian cistern

MedGen UID:
866575
Concept ID:
C4020921
Finding
Synonym: Enlarged sylvian fissure
 
HPO: HP:0100952

Definition

An increase in size of the subarachnoid space associated with the lateral cerebral sulcus (Sylvian fissure). [from HPO]

Term Hierarchy

Conditions with this feature

Glutaric aciduria, type 1
MedGen UID:
124337
Concept ID:
C0268595
Disease or Syndrome
The phenotypic spectrum of untreated glutaric acidemia type 1 (GA-1) ranges from the more common form (infantile-onset disease) to the less common form (later-onset disease – i.e., after age 6 years). Of note, the GA-1 phenotype can vary widely between untreated family members with the same genotype, primarily as a function of the age at which the first acute encephalopathic crisis occurred: three months to six years in infantile-onset GA-1 and after age six years in later-onset GA-1. Characteristically these crises result in acute bilateral striatal injury and subsequent complex movement disorders. In the era of newborn screening (NBS), the prompt initiation of treatment of asymptomatic infants detected by NBS means that most individuals who would have developed manifestations of either infantile-onset or later-onset GA-1 remain asymptomatic; however, they may be at increased risk for other manifestations (e.g., renal disease) that are becoming apparent as the understanding of the natural history of treated GA-1 continues to evolve.
Warburg micro syndrome 1
MedGen UID:
333142
Concept ID:
C1838625
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
Intellectual disability, autosomal recessive 42
MedGen UID:
862780
Concept ID:
C4014343
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Martsolf syndrome 1
MedGen UID:
1778114
Concept ID:
C5542298
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
Neurodevelopmental disorder with hearing loss and spasticity
MedGen UID:
1794234
Concept ID:
C5562024
Disease or Syndrome
Neurodevelopmental disorder with hearing loss and spasticity (NEDHLS) is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly. Some children present with hypotonia (Richard et al., 2021).

Professional guidelines

PubMed

Pedersen H, Clausen N
Neuroradiology 1981;22(2):79-84. doi: 10.1007/BF00344778. PMID: 6946301

Recent clinical studies

Etiology

Cogswell PM, Graff-Radford J, Wurtz LI, Graff-Radford NR, Johnson DR, Hunt CH, Gunter JL, Cutsforth-Gregory JK, Jones DT, Elder BD, Huston Iii J, Jack CR Jr
Neuroimage Clin 2020;28:102481. Epub 2020 Oct 28 doi: 10.1016/j.nicl.2020.102481. PMID: 33395973Free PMC Article
Kojoukhova M, Koivisto AM, Korhonen R, Remes AM, Vanninen R, Soininen H, Jääskeläinen JE, Sutela A, Leinonen V
Acta Neurochir (Wien) 2015 Oct;157(10):1709-18; discussion 1719. Epub 2015 Jul 21 doi: 10.1007/s00701-015-2503-8. PMID: 26190755
Fukuma K, Ihara M, Tanaka T, Morita Y, Toyoda K, Nagatsuka K
Cerebrovasc Dis 2015;40(1-2):45-51. Epub 2015 Jun 16 doi: 10.1159/000430945. PMID: 26088185
Sekula RF Jr, Cohen DB, Quigley MR, Jannetta PJ
Neurosurgery 2006 Jul;59(1 Suppl 1):ONSE168; discussion ONSE168. doi: 10.1227/01.neu.0000220058.17532.b5. PMID: 16894653
Estañol B, Kleriga E, Loyo M, Mateos H, Lombardo L, Gordon F, Saguchi AF
Neurosurgery 1983 Aug;13(2):119-23. doi: 10.1227/00006123-198308000-00002. PMID: 6888689

Diagnosis

Cogswell PM, Graff-Radford J, Wurtz LI, Graff-Radford NR, Johnson DR, Hunt CH, Gunter JL, Cutsforth-Gregory JK, Jones DT, Elder BD, Huston Iii J, Jack CR Jr
Neuroimage Clin 2020;28:102481. Epub 2020 Oct 28 doi: 10.1016/j.nicl.2020.102481. PMID: 33395973Free PMC Article
Minami N, Kimura T, Ichikawa Y, Morita A
Neurol Med Chir (Tokyo) 2014;54(3):227-30. Epub 2013 Nov 20 doi: 10.2176/nmc.cr2013-0025. PMID: 24257490Free PMC Article
Motoyama Y, Ogi S, Nabeshima S
Neurol Med Chir (Tokyo) 2002 Jul;42(7):309-13. doi: 10.2176/nmc.42.309. PMID: 12160312
Kilgore DP, Strother CM, Starshak RJ, Haughton VM
Radiology 1986 Feb;158(2):435-8. doi: 10.1148/radiology.158.2.3941869. PMID: 3941869
Estañol B, Kleriga E, Loyo M, Mateos H, Lombardo L, Gordon F, Saguchi AF
Neurosurgery 1983 Aug;13(2):119-23. doi: 10.1227/00006123-198308000-00002. PMID: 6888689

Therapy

Ko JH, Kim YJ, Jung HH
Interv Neuroradiol 2018 Aug;24(4):387-391. Epub 2018 Mar 21 doi: 10.1177/1591019918764435. PMID: 29562861Free PMC Article
Fukuma K, Ihara M, Tanaka T, Morita Y, Toyoda K, Nagatsuka K
Cerebrovasc Dis 2015;40(1-2):45-51. Epub 2015 Jun 16 doi: 10.1159/000430945. PMID: 26088185
Sekula RF Jr, Cohen DB, Quigley MR, Jannetta PJ
Neurosurgery 2006 Jul;59(1 Suppl 1):ONSE168; discussion ONSE168. doi: 10.1227/01.neu.0000220058.17532.b5. PMID: 16894653
Pedersen H, Clausen N
Neuroradiology 1981;22(2):79-84. doi: 10.1007/BF00344778. PMID: 6946301

Prognosis

Ko JH, Kim YJ, Jung HH
Interv Neuroradiol 2018 Aug;24(4):387-391. Epub 2018 Mar 21 doi: 10.1177/1591019918764435. PMID: 29562861Free PMC Article
Kojoukhova M, Koivisto AM, Korhonen R, Remes AM, Vanninen R, Soininen H, Jääskeläinen JE, Sutela A, Leinonen V
Acta Neurochir (Wien) 2015 Oct;157(10):1709-18; discussion 1719. Epub 2015 Jul 21 doi: 10.1007/s00701-015-2503-8. PMID: 26190755
Fukuma K, Ihara M, Tanaka T, Morita Y, Toyoda K, Nagatsuka K
Cerebrovasc Dis 2015;40(1-2):45-51. Epub 2015 Jun 16 doi: 10.1159/000430945. PMID: 26088185
LeMay M
AJR Am J Roentgenol 1984 Aug;143(2):383-9. doi: 10.2214/ajr.143.2.383. PMID: 6377860
Estañol B, Kleriga E, Loyo M, Mateos H, Lombardo L, Gordon F, Saguchi AF
Neurosurgery 1983 Aug;13(2):119-23. doi: 10.1227/00006123-198308000-00002. PMID: 6888689

Clinical prediction guides

Ozdikici M
Neurol India 2024 Jul 1;72(4):817-823. Epub 2024 Aug 31 doi: 10.4103/neurol-india.ni_552_21. PMID: 39216040
Karlowee V, Kolakshyapati M, Amatya VJ, Takayasu T, Nosaka R, Sugiyama K, Kurisu K, Yamasaki F
Childs Nerv Syst 2017 Aug;33(8):1411-1414. Epub 2017 Apr 5 doi: 10.1007/s00381-017-3405-2. PMID: 28382437
Kojoukhova M, Koivisto AM, Korhonen R, Remes AM, Vanninen R, Soininen H, Jääskeläinen JE, Sutela A, Leinonen V
Acta Neurochir (Wien) 2015 Oct;157(10):1709-18; discussion 1719. Epub 2015 Jul 21 doi: 10.1007/s00701-015-2503-8. PMID: 26190755
LeMay M
AJR Am J Roentgenol 1984 Aug;143(2):383-9. doi: 10.2214/ajr.143.2.383. PMID: 6377860
Ohno K, Enomoto T, Imamoto J, Takeshita K, Arima M
J Comput Assist Tomogr 1979 Feb;3(1):92-5. doi: 10.1097/00004728-197902000-00015. PMID: 422798

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