Maʻi Aicardi

He maʻi maʻi laha ʻole ʻo Aicardi Syndrome. I kēia kūlana, ʻo ke kūkulu e hoʻohui i nā ʻaoʻao ʻelua o ka lolo (i kapa ʻia ʻo ka corpus callosum) he hapa a nalowale paha. Ma kahi kokoke i nā hihia ʻike ʻia āpau i nā poʻe me ka ʻole o ka mōʻaukala o ka maʻi i loko o ko lākou ʻohana (sporadic).

ʻO ke kumu o ka Aicardi maʻi i ʻike ʻole ʻia i kēia manawa. I kekahi mau hihia, manaʻoʻiʻo ka poʻe loea he hopena paha ia o ka hemahema o ka ʻāpana ma ka X chromosome.

Hoʻopili ka maʻi i nā kaikamahine wale nō.

Hoʻomaka pinepine nā ʻōuli ke kau ke keiki ma waena o nā makahiki 3 a me 5 mau makahiki. ʻO ke kumu ke kumu o ka jerking (pēpē pēpē), kahi ʻano o ka hopu ʻana i ka wā kamaliʻi.

Hiki ke loaʻa ʻo Aicardi Syndrome me nā kīnā o ka lolo.

Hiki i nā ʻōuli ʻē aʻe ke:

• ʻO Coloboma (maka o ka pōpoki)
• Kīnā ʻole o ka noʻonoʻo
• Nā maka maka liʻiliʻi liʻiliʻi (microphthalmia)

ʻIke ʻia nā keiki me ka maʻi Aicardi inā kū lākou i nā pae aʻe:

• ʻO Corpus callosum he hapa a nalowale paha
• Moekolohe wahine
• ʻO ka hopu ʻana (hoʻomaka pinepine ʻia e like me nā spasms pēpē)
• Nā ʻeha ma ka retina (retinal lesions) a i ʻole optic nerve

I nā hihia kakaʻikahi, e nalowale paha kekahi o kēia mau hiʻohiʻona (ʻoi aku ka nele o ka hoʻomohala ʻana o ka corpus callosum).

ʻO nā hoʻokolohua e kuhikuhi ai i ka maʻi ʻo Aicardi me:

• CT scan o ke poʻo
• ʻEELE
• Hōʻike maka
• MRI

E hana ʻia nā kaʻina hana a me nā hoʻokolohua ʻē aʻe, kaukaʻi ʻia i ke kanaka.

Hana ʻia ka lapaʻau e pale ai i nā ʻōuli. Pili ia i ka mālama ʻana i ka hopu ʻana a me nā hopohopo olakino ʻē aʻe. Hoʻohana ka lapaʻau i nā papahana e kōkua i ka ʻohana a me ke keiki e kū me ka lohi o ka hoʻomohala ʻana.

Aicardi Syndrome Foundation - ouraicardilife.org

National Organization for Rare Disorder (NORD) - rarediseases.org

Aia ka nānā i ka nui o nā ʻōuli a me nā ʻano olakino ʻē aʻe.

Ma kahi kokoke i nā keiki āpau me kēia maʻi maʻi he paʻakikī paʻakikī e aʻo a pili paʻa loa i nā poʻe ʻē aʻe. Eia nō naʻe, loaʻa i kekahi mau mea i hiki i ka ʻōlelo a hiki i kekahi ke hele wāwae iā lākou iho a me ke kākoʻo paha. Kūleʻa ka hihiʻo mai ka maʻamau a makapō.

Pili nā pilikia ma ke koʻikoʻi o nā ʻōuli.

Kāhea i kāu kahu mālama ola inā loaʻa nā hōʻailona o kāu keiki ʻo Aicardi Syndrome. E ʻimi i ka mālama kūpilikia inā loaʻa ka pēpē a i ʻole ka hopu ʻana i ka pēpē.

ʻO Agenesis o ka corpus callosum me nā kino chorioretinal; Agenesis o ka corpus callosum me nā spasms pēpē a me nā mea maʻamau ʻole o ka ocular; Callosal agenesis a me nā ocular abnormalities; ʻO nā anomalies Chorioretinal me ACC

• ʻO Corpus callosum o ka lolo

Pūnaewele ʻAmelika Hui Pū ʻIa Ophthalmology. Maʻi Aicardi. www.aao.org/pediatric-center-detail/neuro-ophthalmology-aicardi-syndrome. Hoʻohou ʻia Kepakemapa 2, 2020. Loaʻa iā Kepakemapa 5, 2020.

Kinsman SL, Johnston MV. ʻO nā anomalies kūlohelohe o ka ʻōnaehana makaʻu waena. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 609.

ʻO Samat HB, Flores-Samat L. Nā maʻi ulu o ka ʻōnaehana ʻōnaehana. I: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. ʻO Bradley's Neurology i ka hana lapaʻau. ʻEpekema 7 Piladelapia, PA: Elsevier; 2016: chap 89.

Pūnaewele Waihona Lapaʻau o US National Library. Maʻi Aicardi. ghr.nlm.nih.gov/condition/aicardi-syndrome. Hoʻohou i ʻAukake 18, 2020. Loaʻa iā Kepakemapa 5, 2020.