Sturge-Weber maʻi maʻi

ʻO Sturge-Weber Syndrome (SWS) kahi maʻi maʻi laha ʻole i loaʻa i ka wā hānau. E loaʻa kahi keiki me kēia ʻano i kahi hānau hānau stain (kahi maʻamau ma ka maka) a loaʻa paha nā pilikia ʻōnaehana.

I nā poʻe he nui, ke kumu o Sturge-Weber ma muli o ka hoʻololi ʻana o ka ʻO GNAQ ʻāpana Hoʻopili kēia gen i nā kīʻaha koko liʻiliʻi i kapa ʻia nā capillaries. ʻO nā pilikia i loko o nā capillaries ke kumu o ka stain-stains stains e hana ai.

ʻAʻole manaʻo ʻia ʻo Sturge-Weber e hoʻoili ʻia (hoʻoilina ʻia) e nā ʻohana.

ʻO nā ʻōuli o SWS me:

• Pahu Port-waina (ʻoi aku ka nui ma ka maka o luna a me ka uhi maka ma mua o ke koena o ke kino)
• Ka hopu ʻana i nā maʻi
• ʻEha poʻo
• Paralysis a nawaliwali paha ma kekahi ʻaoʻao
• Nā pilikia kīnā
• Glaucoma (kiʻekiʻe loa kaomi wai i ka maka)
• Low thyroid (hypothyroidism)

ʻO Glaucoma paha kahi hōʻailona o ke ʻano.

E komo pū paha nā hoʻāʻo:

• CT scan
• MRI hoʻoili
• Nā kukuna X

Hoʻokumu ʻia ka lapaʻau ma nā hōʻailona a me nā ʻōuli o ke kanaka, a hiki ke hoʻopili ʻia:

• Nā lāʻau lapaʻau anticonvulsant no ka hopu ʻana i ka maʻi
• Nā kulu maka a ʻoki paha e mālama ai i ka glaucoma
• ʻO ka laser therapy no nā stains waina-awa
• Hoʻoikaika kino no ka lōlō a nāwaliwali paha
• ʻO ke kahakaha lolo hiki ke pale aku i ka hopu ʻana

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻikepili hou aʻe ma SWS:

• ʻO ka Sturge-Weber Foundation - paʻa-weber.org
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/sturge-weber-syndrome/#supporting-organizations
• NIH / NLM Genetics Home Reference - ghr.nlm.nih.gov/condition/sturge-weber-syndrome

ʻAʻole hoʻoweliweli pinepine ʻo SWS i ke ola. Pono ke kūlana i ka mālama ola mau ʻana. ʻO ke ola o ke kanaka e pili ana i ka maikaʻi o kā lākou hōʻailona (e like me ka hopu ʻana) hiki ke pale ʻia a mālama ʻia paha.

Pono ke kanaka e kipa i kahi kauka maka (ophthalmologist) ma ka liʻiliʻi i hoʻokahi manawa i ka makahiki e mālama i ka glaucoma. Pono lākou e ʻike i kahi neurologist e mālama i ka hopu ʻana a me nā ʻōnaehana ʻōnaehana ʻē aʻe.

Hiki ke hana i kēia mau pilikia:

• ʻO ka ulu ʻana o ka kīʻaha koko ʻole ma ka iwi poʻo
• Ke hoʻomau nei ka ulu ʻana o ka stain waina-awa
• Hoʻolālā hoʻomohala
• Nā pilikia kūpona a me nā lawena
• ʻO Glaucoma, ka mea e alakaʻi i ka makapō
• Pālolo
• Ka hopu ʻana i nā maʻi

Pono ka mea mālama ola e nānā i nā hānau hānau āpau, me kahi stain waina-awa. ʻO ka hopu ʻana, nā pilikia o ka ʻike, ka lōlō, a me nā loli o ka makaʻala a i ʻole ke ʻano noʻonoʻo paha e pili ana i ka uhi ʻana o ka lolo. Pono e loiloi koke ʻia kēia mau ʻōuli.

ʻAʻohe pale e ʻike ʻia.

Encephalotrigeminal angiomatosis; SWS

• Sturge-Weber Syndrome - nā wāwae o ka wāwae
• Sturge-Weber Syndrome - nā wāwae
• ʻO ka poke stain waipuna ma ka maka o ke keiki

ʻO Flemming KD, Brown RD. Epidemiology a me ka mōʻaukala kūlohelohe o nā malformations vascular intracranial. I: Winn HR, hoʻoponopono. ʻO Youmans a me Winn Neurological Surgery. ʻEpekema 7 Piladelapia, PA: Elsevier; 2017: chap 401.

ʻO Maguiness SM, Garzon MC. Nā malformations vascular. I: Eichenfield LF, Frieden IJ, Mathes EF, Zaenglein AL, eds. ʻO Dermatology Neonatal a me Infant. ʻEkolu huaʻōlelo. Piladelapia, PA: Elsevier Saunders; 2015: chap 22.

Sahin M, Ullrich N, Srivastava S, Pinto A. Neurocutaneous syndrome. 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 614.