Lefu la Aicardi

Aicardi syndrome ke boloetse bo sa tloaelehang. Boemong bona, sebopeho se hokahanyang mahlakore a mabeli a boko (se bitsoang corpus callosum) ha se karolo kapa se lahlehile ka botlalo. Hoo e batlang e le linyeoe tsohle tse tsejoang li etsahala ho batho ba se nang nalane ea lefu lena malapeng a bona (ka sewelo).

Sesosa sa lefu la Aicardi ha se tsejoe ka nako ena. Maemong a mang, litsebi li lumela hore ekaba phello ea bofokoli ba liphatsa tsa lefutso tsa X chromosome.

Boloetse bona bo ama banana feela.

Matšoao a atisa ho qala ha ngoana a le pakeng tsa likhoeli tse 3 le tse 5. Boemo bona bo baka ho qhekelloa (ho hlaseloa ke masea), mofuta oa ho ts'oaroa ke bongoana.

Lefu la Aicardi le ka hlaha ka liphoso tse ling tsa boko.

Matšoao a mang a kenyeletsa:

• Coloboma (leihlo la katse)
• Bokooa ba kelello
• Mahlo a manyane ho feta a tloaelehileng (microphthalmia)

Bana ba fumanoa ba e-na le lefu la Aicardi haeba ba fihlela lintlha tse latelang:

• Corpus callosum e haellang ka mokhoa o itseng kapa e haellang ka botlalo
• Thobalano ea basali
• Ho oela (hangata ho qala joalo ka masea a masea)
• Liso ho retina (liso tsa mahlo) kapa methapo ea mahlo

Maemong a sa tloaelehang, e 'ngoe ea likarolo tsena e kanna ea haella (haholoholo khaello ea nts'etsopele ea corpus callosum).

Liteko tsa ho fumana lefu la Aicardi li kenyelletsa:

• Tlhatlhobo ea hlooho ea CT
• EEG
• Ho hlahloba mahlo
• MRI

Mekhoa e meng le liteko li ka etsoa, ​​ho latela motho.

Kalafo e etsoa ho thusa ho thibela matšoao. E kenyelletsa ho sebetsana le ho oa le mathata afe kapa afe a bophelo bo botle. Kalafo e sebelisa mananeo ho thusa lelapa le ngoana ho sebetsana ka katleho le tieho ea kholo.

Aicardi Syndrome Foundation - ouraicardilife.org

Mokhatlo oa Naha oa Mathata a Rare (NORD) - rarediseases.org

Ponahalo e latela hore na matšoao a matla hakae le hore na maemo a mang a bophelo a teng.

Hoo e ka bang bana bohle ba nang le lefu lena ba na le mathata a tebileng a ho ithuta 'me ba lula ba its'etleha ka botlalo ho ba bang. Leha ho le joalo, ba 'maloa ba na le bokhoni bo itseng ba puo mme ba bang ba ka itsamaela kapa ka tšehetso. Pono e fapana ho tloha ho e tloaelehileng ho ea ho e foufetseng.

Mathata a ipapisitse le boholo ba matšoao.

Bitsa mofani oa tlhokomelo ea bophelo haeba ngoana oa hau a e-na le matšoao a lefu la Aicardi. Batla tlhokomelo ea maemo a tšohanyetso haeba lesea le tšoaroa ke spasms kapa le oa.

Agenesis ea corpus callosum e sa tloaelehang ka chorioretinal; Agenesis ea corpus callosum e nang le li-spasms tsa masea le maemo a sa tloaelehang a mahlo; Callosal agenesis le ho se tloaelehang hoa mahlo; Liphoso tsa chorioretinal le ACC

• Corpus callosum ea boko

Webosaete ea American Academy of Ophthalmology. Lefu la Aicardi. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. E ntlafalitsoe ka la 2 Loetse 2020. E fihlile ka Loetse 5, 2020.

Motsoalle oa SL, Johnston MV. Likotsi tsa tlhaho ea methapo ea kutlo. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 609.

Samat HB, Flores-Samat L. Mathata a ntlafatso ea sistimi ea methapo. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, bahlophisi. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 89.

Webosaete ea Naha ea Bongaka ea US. Lefu la Aicardi. ghr.nlm.nih.gov/condition/aicardi-syndrome. E ntlafalitsoe ka Phato 18, 2020. E fihlile ka Loetse 5, 2020.