1,527 articles
Cerebellar haemorrhage
Cerebellar haemorrhage (cerebellar hemorrhage, ICD-11 8B00.3) is bleeding into the cerebellum, 9-10% of intracranial hemorrhages, with 30-50% 30-day mortality; key risks are hydrocephalus, hematoma over 3 cm, coagulopathy, and intraventricular extension.
Cerebellar hypoplasia
Cerebellar hypoplasia (CH): a cerebellum of reduced volume with preserved shape, a non-specific neuroimaging finding. Causes span genetic syndromes (Joubert, CHARGE), chromosomal and metabolic disorders, prenatal infection, prematurity, and 11 types of pontocerebellar hypoplasia.
Cerebellar liponeurocytoma
Cerebellar liponeurocytoma (cLNC), formerly lipomatous medulloblastoma, is a rare WHO grade II cerebellar neuronal tumor of adults with neurocytic and lipidized cells, treated by resection, with 5-year survival about 92% but frequent recurrence.
Cerebellar-facial-dental syndrome
Cerebellar-facial-dental syndrome, or cerebellofaciodental syndrome (OMIM 616202), is a rare autosomal recessive neurodevelopmental disorder caused by biallelic BRF1 variants at 14q32.33, causing cerebellar hypoplasia, intellectual disability, facial dysmorphism, and dental anomalies; not SETD5-related.
Cerebral arteriovenous malformation
Cerebral arteriovenous malformation (brain AVM, bAVM): an abnormal artery-to-vein shunt in the brain lacking a capillary bed. Key facts: ~2-3% annual hemorrhage risk, Spetzler-Martin grading, ARUBA trial favored medical management for unruptured lesions.
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL (Maeda syndrome, OMIM 600142) is a rare autosomal recessive cerebral small vessel disease caused by HTRA1 mutations, causing early gait disturbance, alopecia, back pain, ischemic stroke, and dementia, mainly in Japanese patients.
Cerebral ischaemic stroke
Cerebral ischaemic stroke, also called acute ischemic stroke or brain infarction, is stroke from a clot blocking a brain artery. Treated with thrombolysis (tPA, tenecteplase) and thrombectomy up to 24 hours; AHA/ASA 2026 guideline governs care.
Cerebral oedema
Cerebral edema is the abnormal buildup of water in brain tissue, a potentially fatal complication of stroke, trauma, infection, and tumors; the rigid skull lets pressure rise and compress the brainstem.
Cerebral palsy
Cerebral palsy, also called cerebral paresis, is a group of permanent movement and posture disorders caused by non-progressive disturbances of the developing fetal or infant brain.
Cerebral shunt
Cerebral shunt, also called CSF or brain shunt, including the ventriculoperitoneal (VP) shunt: implanted catheter-and-valve system draining excess cerebrospinal fluid from brain ventricles to the abdomen or heart to treat hydrocephalus; main risks are infection, blockage, and overdrainage.
Cerebral visual impairment
Cerebral visual impairment (CVI), also called cortical visual impairment, is brain-caused visual dysfunction in children, a leading cause of pediatric vision loss in the United States.
Cerebrofaciothoracic dysplasia
Cerebrofaciothoracic dysplasia (CFTD, Pascual-Castroviejo syndrome type 1, TMCO1 defect syndrome) is a rare autosomal recessive disorder with facial dysmorphism, severe intellectual disability, and rib and vertebral anomalies, caused by TMCO1 loss-of-function mutations; prevalence under 1 in 1,000,000.
Cerebrospinal fluid fistula
Cerebrospinal fluid fistula (ICD-11 8D65), abnormal CSF leak through the dura, cranial or spinal, traumatic, iatrogenic, or spontaneous; endoscopic repair succeeds in about 94% of spontaneous rhinorrhea cases with fewer complications than open surgery.
Cerebrospinal fluid otorrhoea
Cerebrospinal fluid otorrhoea (ICD-11 8D63) is CSF leaking through the ear, usually after temporal bone trauma or surgery, sometimes spontaneous in obese women; diagnosed by beta-2-transferrin and repaired via transmastoid, middle cranial fossa, or combined surgery.
Cerebrospinal fluid rhinorrhoea
Cerebrospinal fluid rhinorrhoea (CSF leak, 髄液鼻漏) is CSF leaking from the nose through a skull base defect, usually traumatic or iatrogenic, confirmed by beta-2 transferrin testing and localized with HRCT or MR cisternography, and repaired endoscopically.
Cerebrovascular abnormalities
Cerebrovascular abnormalities (ICD-11 8B23): a WHO classification category for secondary abnormalities of cerebral blood vessels arising in systemic diseases such as Takayasu disease, fibromuscular dysplasia, sarcoidosis, lupus arteritis, and amyloid angiopathy, coded with the underlying disease.
Charcot-Marie-Tooth disease type 1A
Charcot-Marie-Tooth disease type 1A (CMT1A), the most common CMT subtype, is an inherited demyelinating neuropathy caused by a 1.4-Mb PMP22 duplication on chromosome 17p12, causing progressive distal weakness, with PXT3003 the leading trial therapy.
Charcot-Marie-Tooth disease type 1B
Charcot-Marie-Tooth disease type 1B (CMT1B, HMSN IB) is an autosomal dominant demyelinating neuropathy caused by MPZ gene mutations at 1q22, with early infantile severe or late adult onset phenotypes.
Charcot-Marie-Tooth disease type 1C
CMT1C (OMIM 601098) is a rare autosomal dominant demyelinating Charcot-Marie-Tooth neuropathy caused by LITAF/SIMPLE missense mutations on 16p13, clinically resembling mild CMT1A with conduction velocities around 20-25 m/s.
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 1D (CMT1D, OMIM 607678) is a rare autosomal dominant demyelinating neuropathy caused by EGR2 gene mutations (10q21.1), with onset from infancy to adulthood, severe conduction slowing, scoliosis, vocal cord paresis, and respiratory involvement.
Charcot-Marie-Tooth disease type 1E
Charcot-Marie-Tooth disease type 1E (CMT1E), also called CMT-deafness syndrome, is a rare autosomal dominant demyelinating neuropathy caused by PMP22 point mutations, ranging from HNPP-like mild to Dejerine-Sottas-like severe phenotypes, sometimes with hearing loss.
Charcot-Marie-Tooth disease type 1J
Charcot-Marie-Tooth disease type 1J (CMT1J) is a rare autosomal dominant demyelinating CMT subtype caused by ITPR3 variants, with only four pathogenic variants described, high clinical variability, intermediate conduction velocities, and ClinGen definitive classification.
Charcot-Marie-Tooth disease type 2H
Charcot-Marie-Tooth disease type 2H (CMT2H, CMT4C2, AR-CMT2C) is an ultra-rare autosomal recessive axonal CMT polyneuropathy with pyramidal involvement, described in 13 members of one Tunisian family, linked to chromosome 8q13-q21.1 and the GDAP1 gene.
Charcot-Marie-Tooth disease type 2P
Charcot-Marie-Tooth disease type 2P (CMT2P, formerly CMT2G) is a rare axonal hereditary neuropathy caused by LRSAM1 mutations on 9q33, with dominant or recessive inheritance, adult onset, distal weakness, sensory loss, and reported parkinsonism.
Charcot-Marie-Tooth disease type 2R
CMT2R (Charcot-Marie-Tooth disease type 2R, OMIM 615490) is an ultra-rare autosomal recessive axonal neuropathy caused by TRIM2 loss-of-function mutations, with infantile-onset hypotonia, weakness, areflexia, and vocal cord paralysis; no condition-specific treatment trial exists.
Charcot-Marie-Tooth disease type 2S
CMT2S (Charcot-Marie-Tooth disease type 2S, ORPHA:443073) is a rare autosomal recessive axonal neuropathy caused by IGHMBP2 mutations, first described in 2014, with distal weakness, areflexia, mild sensory loss, and the milder phenotype compared with SMARD1.
Charcot-Marie-Tooth disease type 2T
Charcot-Marie-Tooth disease type 2T (CMT2T, AR-CMT2T, OMIM 617017) is a rare autosomal recessive axonal neuropathy caused by biallelic MME (neprilysin) variants, with adult onset around 45 years, distal leg weakness, and preserved ambulation.
Charcot-Marie-Tooth disease type 4A
CMT4A (GDAP1-related CMT, OMIM 214400) is an autosomal recessive Charcot-Marie-Tooth subtype caused by GDAP1 mutations on chromosome 8q21.1, with early-onset severe demyelinating, axonal, or intermediate neuropathy, vocal cord paresis, and rapid progression to walking aids or wheelchair use.
Charcot-Marie-Tooth disease type 4B1
CMT4B1 (Charcot-Marie-Tooth disease type 4B1, MTMR2-related CMT4) is an ultrarare recessive demyelinating neuropathy with myelin outfoldings, childhood onset, faster progression than CMT4B2, and AAV9 gene therapy in development.
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B2 (CMT4B2, OMIM 604563) is a rare autosomal recessive demyelinating neuropathy caused by SBF2/MTMR13 mutations on 11p15, with childhood onset, focally folded myelin, and early-onset glaucoma.