T,!iP CHI NGHIEN CLfU Y HOC ,
MAT CAM GIAC GIAC MAC BAM SINH:
TRUONG HOP OAU TIEN DUOC PHAT HIEN TAI VIET NAM
Pham Ngoc Ddng, Dd Thj Thuy Hang Benh vien Mit Tmng uang Mit cam giac giac mac bam smh id mqt b§nh iy hiim gap, kho chin doan do khong dwac di y din.
Benh thw&ng bieu hien & ca 2 mat, chi a giac mac hoac kem theo cac bit thw&ng khac a he thin kmh va toan than, mit cam giac dau Do mit cam giac. benh nhan thuang bi vi&m hoac loet giac m^c Tin thuang giac mac thw&ng biiu hien & 3 nam diu iien sau de Viec diiu tn chu yiu la diing cac thuoc boi tran nu&c mit nhan tao, khau cd hoac ghep mang ii Chung toi mo ta va ban luan vi tru&ng hap dau ti§n & Vi$t Nam dwac chin doan bi mit cam giac giac mac bim sinh Benh nhi gai 4 tuoi. bi loet giac mac 2 mit do mit cam giac giac mac bam sinh. kem theo giam cam giac dau. diic. cham phat tnin tinh thin va van dong. Benh nhan dwac diiu tn bing Vigamox. Vismed. ghep mang 6i Dien loet biiu mo hda cham, tan mach giac mac Can chu y phat hien mat cam giac giac mac bam sinh Viec diiu tn dang c6n la mot thach thiic vai cac nha nhan khoa
TCr khoa: mat cam giac giac mac bam sinh, benh giac mac do thieu duang thSn kinh
I. DAT V A N D £
IVlIt cam giac giac mae bam smh la benh ly giac mac hilm gap va thuang bj chin dean nham thanh bgnh ly khac eua giac mac nhu loet giac mac nhilm triing, do thilu vitamin A [1] D i n nay, h l u h i t cac bao cao v l bgnh nay dlu la cac ca dan le, rai rac [2] Benh cd t h i chl bieu hien d m i t hoac kem theo m i t cam giae hcae cac b i t thuang d he thin kmh va cac bp phan khac trong ca the, bieu hien sdm trong 3 nam d l u ddi cua tre [3]. Chan doan diing, nhan ra eac y l u td nguy ca, danh gia ky cac ton thuong thin kmh phdi hgp la cac y l u t l quan trong de iam giam eac hau qua nang n l . lau dai cija benh [4]
Viee dilu tri rlt khd khan va chi d i l u tn tneu chOng SO dung cac thule bdi trgn va
Dia chi liSn he Ph$m Ngoc D6ng - Benh vien Mar Trung
Email dong69nam@yahoo com Ngay nhin 14/11/2016 Ngay duuc chap Ihuan 26/2/201/
khau CO mi la bign phap chinh de han che biln chOng, duy tri thi luc lau dai che benh nhan [4, 5]. Chung tdi md ta ca lam sang mat earn giac giac mae b i m smh i i n d l u tidn duoc _ phat hien d Khoa K i t Giac mae, Benh vien M i t Trung ugng va eung la trudng hap dlu tign duac phat hien va bao cao tai Viet Nam.
II. M O T A C A L A M SANG Benh nhan nu, 4 tuoi vao vien kham vi gia dinh phat hi§n chau ed d i m trlng d 2 m^t Ddm trlng nay to dan nhung m i t tre khong bi kich thich, khdng chdi, ehay nude mit Tre duac tra md Tobradex trong hai tuin nhu'ng khdng dd, dam trlng to dan ra, benh -nhan duge gia dinh dua d i n Benh vign Mit Trong ugng d l kham va d i l u tn
Tre de du thang, de thudng, can nang ktii smh 1^ 3,1 kg, la eon thO nhlt, b l me khdng cd benh ly gi dac biet, Em gai ruot cua bgnh nhan phat tnen tam t h i n van ddng binh
• TAP CHI NGHIEN CU'U Y HOC thudng, hien chua phat hien m l e benh gi vg
mItcOng nhu cac bgnh ndi ngoai khoa khac Liic 6 thang tuoi, tre da dugc kham ehuygn khoa T h i n kmh tai Benh vien Nhi Trung uong vdl chan doan Cham phat tnen tam t h i n va van ddng, da chup MRI so nao va duac chin doan kgm bidt hda myelin
Kham mat. hai m i t md te, khdng chdi, chay nude mit, m i t khdng dd, giae mae ed o loet d trung tam, day kha sach, b i t mau fluorescein rd. nhu md t h I m lau sau t i l n phdng khdng ed mu, khdng quan sat rd la cd t l bao viem hay khdng do khd kham tren smh hiln VI, d i n g tO trdn, phan xa anh sang t i t , mat hoan toan cam giae giac mae
Xet nghiem vi sinh tren nhudm soi ed eau khuin gram duang, nam (-) Nudi c l y khdng cd n i m , VI khudn moc
Toan than tre bi dilc, chua di duge, chua ndi dugc va h l u nhu khdng ed giao t i l p vdi ngudi khac
Bgnh nhan dugc c h i n doan 2 m i l bj loet giac mae do vi khuan, chua loai trO do thieu vitamin A
Dilu tn nhd tai m i t Cravit 5 lin/ngay, Vismed 5 lan/ngay Md Oflovid 2 lin/ngay, Uing Vitamin A theo phac dd d i l u tri khd m i t do thilu Vitamm A 200 000 IU. ngay d l u va ngay thO 2, mdi ngay 1 vien, sau 1 t u i n uong vien thO 3.
K i t qua; sau 3 t u i n , tinh trang m i t h l u nhu khdng thay ddi Tre khdng bi kich thieh, ehdi, chay nude mat Do tinh trang o loet khdng thay doi, m i t khdng cd b i l u hien nhilm triing ngn benh nhan duac ghep mang l i d mat phai (mang di tuui, bao'quan d -78°C) nhlm thuc d l y qua trinh liln bieu md Sau ghgp mang gi 4 t u i n , dien loet thu ggn rlt
cham De tranh phlu thuat 2 lan cho bgnh nhan, chiing tdi da dat khung nhua g i n mang dl Ign m i t trai 1 lln/tuin trong 4 t u i n . Dien loet giac mac thu nhd r l t cham
Trong qua trinh dieu tn, tinh trang dign loet thay doi khdng dang k l Mat khdng kfch thich, do nhu eae trudng hop nhilm trting khac, Mgc dii tre cham phat t n l n tinh t h i n van ddng nhung hgp tae r l t tdt khi kham, tham chi khi dat khudn vac m i t , khdng nhd thule te ma tre eung khdng phan Ong gi K i l m tra ky lai thay tre m i t hoan toan cam giac giac mac, k i t mac, giam cam giac dau khi kieh thich vao ma, da mat va toan than, Tre duae gOi kham chuyen khoa nhi khdng thly bilu hien thilu vitamin A, tre khdng bi suy dinh dudng. Cae bae sy ehuygn khoa nhi cung chua xac dmh duuc nguygn nhan gay ngn s u cham phat t n l n eua tre.
Sau 3 thang dilu tn, dien loet thu gon hon, cd nhilu tan mae giae mac Sau hgn 4 thang, I loet giac mac d 2 m i t tre da bilu md hda hoan toan, tao seo giac mac Tre duge tilp tuc theo ddi ngoai tru
Oao due nghien cOu
Nghien cuu nay duac thuc hien vdi su ddng y ciia gia dinh ngudi benh va Bgnh vign Mat Trung ugng Ngudi benh duac an danh va cac k i t qua nghien cuu chi nhlm muc dich cham sdc sOc khoe m i t ehe benh nhan ma khdng su dung cho b i t ky muc dich nao khac III. BAN LUAN
Cam giac giac mac binh thudng cd vai trd sdng edn trong vide duy tri su toan ven eua bigu md giae mac Khdng chi cd vai trd quan trong trong phdng ngOa chin thuang thdng qua phan xa ehgp m i t va phan xa tilt nude
TCNCYH 106(1)-2017
AP CHi N G H I E N T C U ' U Y HOC • mat, cam giac giae mac cdn ho tra vigc liln bilu'md giae mgc blng each kich thich eac t l bao bilu md tang sinh Kieh thich tang trudng t l bao b i l u md duac cho ia do cae ehlt d i n truyin t h i n kmh va cac y l u td phat t n l n thin kmh duac giai phdng ra tO cac d l u mut day t h i n kmh. Mdt peptid t h i n kmh P (Substance P) d giac mac giiip kich thieh su tong hap DNA va qua trinh han g i n cua cae t l bao bilu md giae mac se bi giam khi giam s u p h a n bd t h i n kmh trdn b l mat giac mae.
Mat cam giac giac mac cd t h i bam sinh hoae mlc phat (sau cac e h l n thuang vimg mat gay t i n thuang day t h i n kinh V, sau phlu thuat LASIK, sO dung thulc gay te b l mat nhan c l u kee dai ) [4]
Ton thuang cam giac giac mac b i m smh ia mdt benh 1^ hilm gap M i t cam giae giac mae co t h i chl la ton thugng tai mat hoac la mdt trong nhung bilu hign cua hdi chOng than kmh phOc tap vdi nhOng b i t thudng ngoai bign khac nhau Benh thudng bieu hign d tre dudi 3 tuli, nhlt la trgng tO 8 thang d i n 12 thang. Benh nhan cd the khdng ed trieu chOng gi, chi dugc chan doan khi bae sy nghi ngd va lam cae kham nghiem can thiet
0 giai doan sdm, vigc c h i n doan gap nhilu khd khan do b i l u hien benh khdng rd rang va d l e h l n doan la viem k i t mae hoac vigm giac mae dan t h u i n , Benh nhan cd the CO eae dot do mit, kem rO m i t gilng nhu vigm k i t mae, viem giae mac mdt ben hoae 2 ban va it dap Ong vdi d i l u tn [6, 7] Thi iuc thap nhung it so anh sang, it euang tu k i t mac va khdng ed kieh thich hoac dau d m i t la cac dau higu nghi ngd den benh ly nay [4]
B$nh ly giac mae do m i t cam giac giac mac b i m smh t i l n tnen theo 3 giai doan
Giai doan 1. bilu hidn blng eac dam kho trgn b l mat giac mac va khdng cd ton thuang ro rang, dudi dgng bgnh giac mae chim, cac dam cd luu Igi fluorescein B§nh giac mac dang c h i m cd the la bieu hien cua cac t l bao bilu md bl chit, cd the do khdng cd su thay t h i kip thdi Giai dgan nay t i l n t n l n man tinh, nhu md phia dudi cd the ed bong nhd, cd tan mach, bilu md phia tren tang san.
Giai doan 2 bieu hidn bong bilu md d p tinh, thudng xay ra d viing khdng dugc mi tren che phu Co c h l la do giam udt nude mat va do s u co sat. N l u keo dai, se tao ngn vimg m i t b i l u md hinh ovan hoac hlnh vong, dac trung eho benh giac mac do nguyen t h i n kmh,
Giai doan 3' the hien blng nhuyln nhu mo giac mac, ed t h i d i n d i n thCing giac mac Hau qua cd t h i gay ra nhiem triing giac mac hoac nhilm triing noi nhan thO phat.
Mac dii trong y van da ed tdi hgn 80 trudng hgp m i t cam giac giac mae bim smh duac bao eao nhung d i n nay v l n chua co su ddng thuan v l each phan loai hlnh thai benh [2]. Shorrey phan loai thanh 2 nhom:
nhdm ed t i n thuang toan than kem theo va nhdm khdng cd tdn thuong toan than [8]
Rosenberg phan loai iiet day V theo 3 nhdm, dua vao su ed mat va hlnh thai cua cac ton thuong kem theo,
Nhom 1: ton thuang day V dan dec, khong kgm ton thugng d cac eg quan va day thin kinh khae B§nh thudng xay ra d 2 mat hilm khi 1 mit, ehu y l u d nhanh 1 (nhanh mat) Hai nhanh cdn lai it bi ton thuang Khdng eo tin thuang d cac day than kmh khae va d trung bi, thuang bi la diem dac trung cua tin thugng nay. Nguygn nhan la do thilu san th^n kmh nguyen phaL
• TAP CHI NGHIEN CU'U Y HOC Nhdm 2 Ton thuang day V kem theo ton
thuang d thuang bl hoac trung bi nhu hdi chOng Goldenhar (loan san m i t - tai - I n g song). M i t cSm giac giae mgC thudng chf la mdt bilu hien trong nhieu bat thudng khac Mat cam giac giac mac cd the xay ra d 1 ben hoae 2 ben, thudng kgm m i t cam giac cua da mat. Nhdm nay cd the khdng d i n g nhlt, vdi nhilu can nguyen khac nhau, cd the lign quan din nhOng c h i n thugng a giai doan sdm cua thdi ky phdi thai
Nhdm 3' Ton thuong day V khdng kgm theo cac day ngoai bien khac nhung lai ed eae ton thuong tOng o d nao Nguyen nhan eua hign tuang nay ed t h i do eac ton thuang tOng 0 tai nao d thdi ky bao thai, cd t h i do cac chan thugng trude smh hogc nguyen nhan mach mau [9]
Dieu tn mat cam giae giac mac cdn gap r l t nhieu khd khan do bdnh thudng duge phat hien mudn va cham dap Ong vdi dilu tri. Do vay rlt can thilt phat hien bgnh d giai doan sdm vdl eae d l u hieu nhan biet sdm c l n luu y k i t mae cuang tu nhung benh nhan khdng kieh thieh, khdng dau nhOe
D i l m quan trgng n h l t trong d i l u trj la cham sdc bieu md giac mac de tranh dan d i n giai doan bgnh giac mac do nguyen nhan t h i n kmh. Lua chgn hang d l u la khang smh, bdi tren va nude mat nhan tao, bang mit.
D i l u trj noi khoa
Thulc bdi trgn va nude mat nhan tao d giai doan roi loan bieu md, ehi c l n diing chit bdi tran va nude m i t nhan tao khdng ed c h i t bao quan Cd the ddng Id Ie degiiip luu giu nude m i t tren b l mat nhan c l u
Kinh t i l p xuc va kinh bao ve kinh t i l p xuc mem, dimg mdt thdi gian n g l n cd the cai thien
dugc tinh trang b§nh trong giai doan dau, khi bilu md chua b\ trde ra Kinh ed the kieh thich qua trlnh l i l n bieu md, giiip cho qua trlnh han g i n b i l u md vao nhu md, bao v$
bieu md khdng bi trdc do tac ddng cua mi m i t Tuy nhien, n l u deo kinh kdo dai cd the d i n d i n nhilm khuan thO phat, tao tan mach, tao seo. Deo kinh gong bgn ngoai giup han c h l dugc cac e h l n thugng va bao ve m i t khdi cac tac nhan cua mdi trudng, han ehe vigm giac mac nhiim trung
Cae thudc chlng viem: vigm kgm theo loet giac mac do nguygn nhan t h i n kmh iam cho viec d i l u tn trd nen kho khan han. Qua trlnh hln bieu md bi Oc c h l bdi dap Ong vigm trong d i l u kien khdng cd t h i n kinh cam giac.
Corticosteroid r l t ed tac dung trong viee chong vigm, lam giam vigm m i t rat ro ret, Tuy nhign, c l n phai theo ddi chat che, d l tranh nguy ea hoai t u nhu md va thCing giac mae. Cae thudc chdng viem khdng phai la steroid cd t h i diing phdi hap vdi steroid nhung c l n than trong khi diing thule nay tren bgnh nhan bi m i t cam giac giac mac vi nd cd t h i lam cho m i t cam giac giae mae trd ngn nang han.
cac thulc chlng ty giai collagen' tetracy- cline dang tra m i t va dang uIng duac ehOng minh la ed tae dung trong viee iam giam kha nang tigu collagen Thude ed tae dung Oc c h l cac men tieu collagen, diet khuan.
Cae ehe p h l m smh hoe ed mdt sd c h l phlm sinh hoe ed t h i su dung d l kich thieh qua trinh hln bilu md, Cac thuoc nay thude v l nhdm thulc lam tang trudng bieu md (EGF), fibronectin, y l u t l tang trudng t h i n kinh va huylt thanh t u than TrO huylt thanh tu than, den nay eae y l u to khac chua dugc Ong dung tren lam sang
TCNCYH 106(1)-2017
TAP CHI NGHIEN CU'U Y HOC
Dilu trj phlu thuat
Khau ed mi phlu thuat cd hieu qua trong vide kich thich hln bieu md khi cac bien phap dilu tri bao t i n thit bai Khau cd mi cdn la bien phap dieu tn du phdng cac ton thuang giac mac [2]
Ghep mang l i la mdt bien phap dilu tn bgnh ly giac mac do thilu dudng than kinh Cd the ghep 1 idp hoac 2 Idp mang l i [4],
Dan keo n l u Id thung nhd, cd t h i dan keo d l ban Id thung Keo dan cyanoacrylate ed tac dung tao ndn hang rao tam thdi d l md giae mac cd t h i t u liln. Keo se bong ra sau mdt thdi gian hoac ed t h i ton tai sau nhilu thang [2]
Ghep giac mac xuygn r l t it bao eao v l k i t qua ghep giac mgc xuygn trong dieu tn m i t cam giac giac mac b i m smb. Nguy ca t h i t bai cao do ed tan maeh giac mae. giam
cam giae giae mac, Manh ghdp thudng bi seo Cd the ghep giae mac Idp de giam nguy ca t h i t bai [4]
Benh nhan trong bao cao nay la trudng hgp m i t cam giac giac mac b i m sinh dlu tign dugc md ta a Viet Nam dugc phat hign liic tre 4 tuoi, Cd the t i n thuang md m i l da xult hien to trude dd, nhung do it cac trieu chOng ca nSng, tre cham phat t n l n tinh thin va van ddng, gia dinh sdng d ndng thdn ndn chi dugc dl kham khi tdn thuang da nang. Tre 6a duo^
dieu tri blng nude m i t nhan tgo, kich thich lien bieu md. Khd giae mac do thilu vitamin A dugc loai trO sau khi d i l u trj theo phac d l ma ton thuang giac mae v l n khdng thay doi. Dign logt bieu md hda r l t cham, sau nhilu tuin dilu tn. Ngay ca sau khi duac ghgp mang 1,1,, dign loet rat cham bilu md hda Sau han 4 thang d i l u tn giac mac mdi bilu md hda hoan toan va tao seo giae mae
w _
4
Dam trang tren giac mae Loet giac mac bat mau fluorescein Hinh 1. Tdn thuang giac mac t r u d c dieu trj
o^
MP Sau ghgp mang di 1 thang MT Sau dat khudn ed mSng l i 1 thang Hinh 2. T6n thuang giac mac sau dilu trj blng ghep mang di
• TAP CHI NGHIEN CU'U Y HOC
Hinh 3. Giac mac da bieu md hda hoan toan sau 4 thang dieu trj
Ngoai giam cam giae d giae mac, k i t mae, benh nhan edn bi cam giae dau d mat va toan than, Tre bi dilc, cham phat tnen tinh t h i n va van ddng Kham ehuygn khoa Nhi, cae bac sy ehuygn khoa v l ndi tilt, di truyin chua phat hien dugc trudng hap bdnh ly nao de can thiep
Xgt thee phan logi cua Rosenberg, bgnh nhan nay thudc v l nhdm 2, nhdm ed eac ton thuang phli hop giam cam giac dau va b i t thudng ve toan than. Viec dieu tn r l t khd khan, giac mac cham bilu md hda va cd nguy ca xult hien viem loet giae mac trd lai Day la mdt thach thue d l i vdi cae thly thuoc nhan khoa
IV. K£T LUAN
M i t cam giac giae mac b i m smh la benh ly hilm gap, cd t h i xay ra dgn ddc hoae la tngu chung trong hdi chOng b i t thudng cua t h i n kmh ngoai bien, Mac du m i t cam giac giac mac cd ngay tO sau de nhung bdnh thudng bieu hign khi tre dugc 8 - 1 2 thang Ddi khi, benh khdng cd tngu chOng gi Khi cd kem eae t i n thugng khae, benh thudng dugc ehan doan d l dang ban. Khi ehi cd m i t cam giac giac mac dan ddc,, c l n kham ky v l t h i n kinh ngoai bign, chup MRI d l phat hien cac ton thuang phdi hap. Viec d i l u tn cdn gap nhilu khd khan va phai benh nhan c l n duac theo ddi va d i l u tn ca ddi.
Lo'i cam e n
Chiing tdi xm chan thanh cam an gia dinh benh nhan da tao d i l u kign thuan loi va cho phep chimg tdi thuc hien nghign cOu nay
Chiing tdi cam doan khdng cd xung dot ve lai ich trong nghien cOu
TAI LIEU THAM KHAO
1. Tan J., Zhang C (2012). A case of con- genital corneal anesthesia with hypopyon in china Eye Sci, 27(2), 106 -108
2. Ramaesh K., Stokes J., Henry E et al (2007). Congenital corneal anesthesia Surv Ophthalmol, 52(1), 5 0 - 6 0
3. Mantelli F., Nardetla C , Tiber! E et al (2015). Congenital Corneal Anesthesia and Neurotrophic Keratitis Diagnosis and Man- agement Biomed Res Int, 805876
4. Ramappa M., Chaurasia S., Chakra- barti S et al (2014) Congenital corneal anes- thesia,J AAPOS, 18(5), 427 - 432
5. Carpel E.F (1978). Congenital corneal anesthesia. Am J Ophthalmol, 85(3), 357 - 359,
6. Voyatzis G., Mukherjee A., Rajan M.S et al (2012). Congenital unilateral corneal an-
TCNCYH 106(1)-2017 91
TAP CHI NGHIEN CU'U Y HOC - aesthesia with microphthalmos a ease re- 8. Shorey P.,Lobo G. (1990). Congenital port Case Rep Ophthalmol Med 2012: corneal anesthesia problems in diagnosis, 703183- J Pediatr Ophthalmol Strabismus. 27(3),
7. Mathen M.M., Vishnu S., Prajna N.V et 143 - 147
al (2001). Congenital corneal anesthesia a 9. Rosenberg Wl.L (1984). Congenital senes of four ease reports. Cornea, 20(2), 194 tngeminal anaesthesia A review and classifi- -196. cation Brain. 107 (4), 1073 -1082
Summary
CONGENITAL CORNEAL ANESTHESIA:
THE FIRST CASE REPORTED IN VIET NAM
Congenital corneal anesthesia (CCA) is a rare clinical entity that poses a diagnostic dilemma, due to lack of attention The sensory deficit usually occurs in both eyes, may occur as an isolated abnormality or a part of a complex neurological syndrome or it may occur in association with multiple somatic abnormalities and congenital insensitivity to pain Due to sensory deficit, patient usually has keratitis or corneal ulcer, occurring in the first three years. The treatment is mainly by using lubricant, artificial tears, tarsorraphy or amniotic membrane transplantation W e report and discuss the first case of CCA diagnosed in Vietnam This 4 years old female suffered from bilateral corneal ulcer due to CCA associated with congenital insensitivity to pain, deafness and delay mental and physical development- Patient was treated with Vigamox, Vismed and amniotic membrane transplantation.
The ulcer healing occurred slowly with neovasculazation More attention should be paid lo diagnosis CCA The treatment of CCA is still a big challenge to the ophthalmologist Key words: Congenital corneal anesthesia, neurotrophic keratitis
