[doc格式] 以呼吸肌麻痹为主要表现的成人型脊髓性肌萎缩症1例

[doc格式] 以呼吸肌麻痹为主要现的成人型脊髓性肌萎缩症1例 以呼吸肌麻痹为主要表现的成人型脊髓性 肌萎缩症1例 1?? ???8,?t????,?6?o?9 ???5????:250031p????????[?]?]?????????? ?6?????5:???8,E2mail:caokasimi@yahoo.com.cn p?p?ps???G??p@p??a???H???o?=;???t?????? ps?N???0????p@p?R746.4p?ps???G?3???1p@p?Bp?ps?????;??p@p?1671-6450(2008)07-0437-02 p?p????5,?r,68??,?????t????p1??????????????????4h ??2000??12?E21???P??????p,???5??????????8Iu00?)?? ?.,???3?????????+,???????t????,?????V??,?c???]??,?? ??????p,?????????)??p1??????p,???5???)???????@,???? ?????8??????,??????2d????????p,?????m???o????3??, 6?K?E??????MRI?[C4??7?o????????,?????????????7???? ?????V??p,?????????i???????o?=3??,??3?K?E?o?f?? ??,????????p,?????d????????p,????:T36.8M:,P90?MΠ min,R20?MΠmin,BP60Π90mmHg(1mmHg=0.133kPa)p,?? ???M??,?????c???E,???t???O,???+??,???????t????,???? ????I??,???d????,?????L????????p1???i???????o?=,?? ?????????2(??),???0???K?n??,?@???[?????A?Hp,?????? ??:?vK + 5.04mmolΠL,Na + 118.9mmolΠL,Cl - 80.6mmolΠL, GLU8.89mmolΠLp,?v?.?0??:pH6.921,PaCO299.0mmHg, PaO256.72mmHgp,???D???[???H????,T?????;p,?A??CT ?[???????[?????H????p,?(??????:(1)???t????(II??); (2)?D???g?????????a??(?????v??p1???U?v??p1???t?H???N ??);(3)???o??p,????4h?o???5???t?h?????O,???????t ????,?v?????c?p,?k???H?O,???.??????p1?3??p1???t?[???? ???t???c??,?M???k?????c,?????????t,?????]???t,???? ?t?[???????tp,1???o????:?????????t,?????????????? ????????,???a??????5??,???i??????3??4??,???????? ???O,?)?????t,???????????2(+),???0???K?n??p,?[?o?? ??????????,??????????CSF?????????t,????0.9gΠLp,?? ?D???[???????H?V??p,???????A???]??:???????o?f?H?k?c ??,?????H?????????????o?=???k????,???0???????????A ???)????,????????????????,?????g???????),???o?f???H ????????,NADH???????????r????p,?O???????V?????6?r ?H?c??????????,?x?????????????]??:?m???????????o?f ???@,?????H?????)?B??????????,???0???I?????r???H,?? ?o?f???????????)p,???0????:???????H???o?=,?]?????0 ?V???9?E?s?????a???H???o?=??(spinalmuscularatrophy,SMA IV)p,???????D???g?a???????N??,???????)?dB??p1?????E ?zp1?V????????????????,???5???]???t???c,?????O?c???? ?1?m?????t,???t?[???16?K?E,???????????????O?t????p, ??p???p??s????SMA?U?????@???????????????d?H?? ??,?A???a?????????????o?=?????[????,?????t???????[ ?]???????5????????p,???????k??0.5Π10000,?????????[ 15??69??,1Π3?[?t???????f?H???d,?m??????????????,?H ?6????????????????,???o???????? [1] p, ?L???A????????????(65??)p1???i??(3??),?????t?? ?????[?]??????p,???????????o?=???????)???????[???o ??p,???M?????t????p1??????????????????4h????p,???? 4h?????t??????p1II?????t????p1?A?D???g?????O???????? ?t????????,???????s??,???????)???t?[???????tp,?o?? ???D??,?????]?????????????]???????[?s????SMAp,???A ???????3???9?EPearn??????SMA???????3?? [2] :(1)?m?i ?????????W???U???A??????,?????c???m?P????????;(2)?? ?D?????[???????H????,?????????d???)?????t;(3)???]?? ?[???????H???o?=;(4)?@?a???????+?????tp,?L?????5?@ ?a??????(0.9gΠL),???????????????e?????=???E??,???? ?o???o???m??p,???o???H?a?????n?????????H?a???????? ?@??C4,???????t?????????o?????????U,???[?gC4???a, ?????:?????o?=???I???;(ALS)?;SMAp,???;???G????SMA ?E?????t?????6????SMA2I?????w,?????[???)?o6?K?E?? ????????????,?????Hp1?????H??????p1???o?=???????????) ???????????? [2??4] ,?s????SMA????p,??????????1?????t ???????????????5,?t???????2?????a???????????????o?f ???@,???V???????????Hp,?L?????5???u???o?K???t??,?? ?)???6?????????????]???????[?s????SMA,?o?????]???t ???c,?????t???O,???????t?[????,???????o???????????? C4?a??????????????????p,???????? [1] ????46???s???? SMA,42?????????]??,??1?????????t??????,?????????? ?G?????s????SMA???????t??????????p,?L????????,?? ??????,??????,??????,???i??,???????????c?z,???h?k ??,?o?????????????]??,?)???o??????p,?????o??,?????? ??????,?????c??,?????????????O?t????p, ?L?????o??????????p1???H?e?????=???E?????5?????? ???????????+,???+?U?E?????o?????T?????k,???:???p?? ????????,???????k????p, ??734?????????z??2008??7?E?L7???L7?)p?ChinJDifficandComplCas,June2008,Vol.7No.7 1p???????,??????,?d??,??.?s?????a???H???o?=???A???????d?? ?.??[J].???N?o?????????z??,2006,13(4):2232224. 2p?GianniniA,PintoAM,RossettiG,etal.Respiratoryfailureininfantsdue tospinalmuscularatrophywithrepiratorydistresstype1[J].Intensive CareMed,2006,32(11):185121855. 3p?Rudnik2SchonebornS,StolzP,VaronR,etal.Long2termobservationsof patientswithinfantilespinalmuscularatrophywithrespiratorydistress type1(SMARD1)[J].Neuropediatrics,2004,35(3):1742182. 4p?PittM,HouldenH,JacobsJ,etal.Severeinfantileneuropathywith diaphragmaticweaknessanditsrelationshiptoSMARD1[J].Brain, 2003,126(Pt12):268222692. (?u?w???):2008-01-02) ???@?????? p??@???N?G??????????1?? ?d????,??????,?????? ???5????:050021p????????,?N???]?????? p?p?ps???G??p@p??@???N?G??????????;MRI ps?N???0????p@p?R744.5p?ps???G?3???1p@p?Bp?ps?????;??p@p?1671-6450(2008)07-0438-01 p?p????5,??,39??p,?]??????????????1????,?????k?? ?c?5?A?????+20d????p,??????10d???5????????????, ???????H????,?s?s???????????B?h?H?+??;?(???k?????5 ??,?????6?5??,???????b?=,???????s????p,?????m???H?? ??????p,????:?P???P???c??,????????,???f???????H???? ?P??,?????d?5,?????????H?O??,???????????d?E??,???? ???2???g,???o?f???+p,???a??p1???i??????0??,???d???? ??,?????2???O;???a??p1???i??????I??II??,???d??????, ?????2?]??,??????,???k??(??),?)???????????t,?H???O ??,?????K???,?tp,????????:?vK + 3.04mmolΠL,?vNa + 134 mmolΠL,?????v??8.7mmolΠLp,?A??MRI????????:???@?H ??????T1WIp1??T2WI????p,?????[?@???N?G??????????p, ?,?????g?O?A?z?o?????g???d,?????????????P???????U?1 ????,?????D???g?a??,???[???0,???c???????2?0,?????? 36d,???????????????O,???????c?pV??,?????h??????, ???????c????p,?????o?c???A??MRI,???@?N?????????L ???tp, ??p???p??@???N?G??????????(CPM)?U?????R?k???O ?t?????@?????????????H?O?????[???0??????????p,CPM ?????????????[?u?6?c?5??p,???????[?o?P?????????6?? ???d?m?? [1,2] p,CPM?????0?)?0?[?u?o?@???R?k???????O?: ????p,?????P???????n???A?o?D???g?a????(?;)?P???c?? (?????R??),???+?U????(?;)?????v??????????,?O??Na + p1 K + ?????m?????g?c???J???????@????,?????n???@?????P ???[?A,???????????@?????????g?????O?O;????p1???R?v?? ?;???????I?????????n???@???????? [3] p, ?L???[?????H,?????????r?????????),?L???t?A???? ?P????????(????????????p1???????)??)p,?6?g?????????? ?v?a???u???)?????B?h?H?+??;????p1?8????????????;?e ?3p1?e?:???l????????;?????2??p1?????;?c?????H???1???E ??p,?t?????U?????U???????m????????????p,?g???????? ???????@?????????????H???????????r????,?f?[?????0?: ????T1p1??T2????,?????[????p,?6?t????2??3???o,?,?t ?????f?[?5??,???????????K?@??p,?@???L???????D?? (BAEP)?????????[I??V???;III??V???????k???,?t????, ???m?????????@????????????p, ?L?????t???????;,?????m?????????5?????g???S???? ?d???f???dp1?????:???????v??????p,CPM?U?????????H?? ??,???????????????????0???5?m?B???????cp,?????????v ????,???g???R???A,???m?????)?????h??,?????u???????? ???m???????S?L???????)p,?L???????o???,?????O?A???? ?g?????g???d,?????????U?1????,?????D???g?a??,???[?? ?0?????E???c????,???o????,?????)?]???0p, ???(?@?????????H?k?o?????P?H?)?A???????P???i?? ??????????p,?????????????5???o????,??????????,???? ?????;??????????,?@?????]???5???????B?H?????+???P?? ????????????,???m???????c?????5p, ???:???G 1p?ShintaniM,YamashitaM,KanoA,etal.Centralpontineandextrapontine hypokalemiamyelinolysisassociatcdwithtype2diabeticpatientwith hypokalemia[J].DiabetesResClinPract,2005,68(1):75280. 2p?MichellAW,BumDI,ReadingPJ.Centralpontinemyelinolysistemporally relaedtohypophosphataemia[J].JNeurolNeurosurgPsychiatry,2003,74 (7):8202821. 3p??7?d??,?d????,???s?@???N?G??????????[]?A???]??,6, 6()2 (?u?w???)) ??834?????????z??2008??7?E?L7???L7?)p?ChinJDifficandComplCas,June2008,Vol.7No.7 .J.200 210:910. :2008-02-24