Porencephaly: Definition from Answers.com

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Porencephaly
Classification and external resources

ICD-10	G 93.0, Q 04.6
ICD-9	348.0, 742.4
OMIM	175780
DiseasesDB	33031

Porencephaly is a type of cephalic disorder involving encephalomalacia.^[1] This is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth.

Contents

1 Causes
2 Diagnosis
3 Presentation
4 Treatment and prognosis
5 References
6 External links

Causes

Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue.

An association with COL4A1 has been described.^[2]^[3]

Diagnosis

The presence of porencephalic cysts can sometimes be detected by transillumination of the skull in infancy. The diagnosis may be confirmed by CT, MRI, or ultrasonography. The diagnosis can be made antenatally with ultrasound.

Presentation

More severely affected infants show symptoms of the disorder shortly after birth, and the diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (decreased muscle tone), seizures (often infantile spasms), and macrocephaly or microcephaly.

Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation.

Treatment and prognosis

Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus. The prognosis for individuals with porencephaly varies according to the location and extent of the lesion. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.

References

^ Gul A, Gungorduk K, Yildirim G, Gedikbasi A, Ceylan Y (May 2009). "Prenatal diagnosis of porencephaly secondary to maternal carbon monoxide poisoning". Arch. Gynecol. Obstet. 279 (5): 697–700. doi:10.1007/s00404-008-0776-3. PMID 18777036.
^ van der Knaap MS, Smit LM, Barkhof F, et al. (March 2006). "Neonatal porencephaly and adult stroke related to mutations in collagen IV A1". Ann. Neurol. 59 (3): 504–11. doi:10.1002/ana.20715. PMID 16374828.
^ Gould DB, Phalan FC, Breedveld GJ, et al. (May 2005). "Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly". Science 308 (5725): 1167–71. doi:10.1126/science.1109418. PMID 15905400. http://www.sciencemag.org/cgi/pmidlookup?view=long&pmid=15905400.

External links

Porencephaly at NINDS

Pathology of the nervous system, primarily CNS (G04–G47, 323–349)

Inflammation

Brain	Encephalitis (Viral encephalitis, Herpesviral encephalitis) · Cavernous sinus thrombosis · Brain abscess (Amoebic)

Spinal cord	Myelitis: Poliomyelitis · Demyelinating disease (Transverse myelitis) · Tropical spastic paraparesis · Epidural abscess

Both/either	Encephalomyelitis (Acute disseminated) Meningoencephalitis

Brain/
encephalopathy

Degenerative

Extrapyramidal and movement disorders	Basal ganglia disease: Parkinsonism (PD, Postencephalitic, NMS) · PKAN · Tauopathy (PSP) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia: Dystonia (Status dystonicus, Spasmodic torticollis, Meige's, Blepharospasm) · Chorea (Choreoathetosis) · Myoclonus (Myoclonic epilepsy) · Akathesia Tremor (Essential tremor, Intention tremor) · Restless legs · Stiff person

Dementia	Tauopathy: Alzheimer's (Early-onset) · Frontotemporal dementia/Frontotemporal lobar degeneration (Pick's, Dementia with Lewy bodies) Multi-infarct dementia

Mitochondrial disease	Leigh's

Demyelinating

autoimmune (Multiple sclerosis, Neuromyelitis optica, Schilder's disease) · hereditary (Adrenoleukodystrophy, Alexander, Canavan, Krabbe, ML, PMD, VWM, MFC, CAMFAK syndrome) · Central pontine myelinolysis · Marchiafava-Bignami disease · Alpers' disease

Episodic/
paroxysmal

Seizure/epilepsy	Focal · Generalised · Status epilepticus · Myoclonic epilepsy

Headache	Migraine (Familial hemiplegic) · Cluster · Tension

Cerebrovascular	TIA (Amaurosis fugax, Transient global amnesia) Stroke (MCA, ACA, PCA, Foville's, Millard-Gubler, Lateral medullary, Weber's, Lacunar stroke)

Sleep disorders	Insomnia · Hypersomnia · Sleep apnea (Obstructive, Ondine's curse) · Narcolepsy · Cataplexy · Kleine-Levin · Circadian rhythm sleep disorder (Advanced sleep phase syndrome, Delayed sleep phase syndrome, Non-24-hour sleep-wake syndrome, Jet lag)

CSF

Intracranial hypertension (Hydrocephalus/NPH, Idiopathic intracranial hypertension) · Cerebral edema · Intracranial hypotension

Other

Brain herniation · Reye's · Hepatic encephalopathy · Toxic encephalopathy

Spinal cord/
myelopathy

Syringomyelia · Syringobulbia · Morvan's syndrome · Vascular myelopathy (Foix-Alajouanine syndrome) · Spinal cord compression

Both/either

Degenerative

SA	Friedreich's ataxia · Ataxia telangiectasia

MND	UMN only: PLS · PP · HSP LMN only: PMA · PBP (Fazio-Londe, Infantile progressive bulbar palsy) · Spinal muscular atrophies (SMA, SMARD1, SBMA, SMAX2, SMA-PCH) both: ALS

M: CNS

anat(n/s/m/p/4/e/b/d/c/a/f/l/g)/phys/devp

noco(m/d/e/h/v/s)/cong/tumr, sysi/epon, injr

proc, drug(N1A/2AB/C/3/4/7A/B/C/D)

Congenital malformations and deformations of nervous system (Q00–Q07, 740–742)

Brain

Neural tube defect	Anencephaly (Acephaly, Acrania, Acalvaria, Iniencephaly) · Encephalocele · Arnold–Chiari malformation

Other	Microcephaly · Congenital hydrocephalus (Dandy–Walker syndrome) other reduction deformities (Holoprosencephaly, Lissencephaly, Pachygyria, Hydranencephaly) Septo-optic dysplasia · Megalencephaly CNS cyst (Porencephaly, Schizencephaly) Polymicrogyria (Bilateral frontoparietal polymicrogyria)

Spinal cord

Neural tube defect	Spina bifida · Rachischisis

Other	Currarino syndrome · Diastomatomyelia · Syringomyelia