【python爬虫】批量识别pdf中的英文，自动翻译成中文上

不管是上学还是上班，有时不可避免需要看英文文章，特别是在写毕业论文的时候。

比较头疼的是把专业性很强的英文pdf文章翻译成中文。

我记得我上学的时候，是一段一段复制，或者碰到不认识的单词就百度翻译一下，非常耗费时间。

英文好的请绕道

。

本文提供批量识别pdf中英文的方法，后续文章实现自动pdf英文转中文文档，敬请期待

。

一、安装pdfplumber库

识别pdf中的内容，需要用到pdfplumber库，所以首先安装pdfplumber库，常规代码如下：

pip install pdfplumber

但是在安装过程会报如下错误：

上网找了一下资料，发现可以使用国内的镜像进行安装

国内的一些pip源：

中国科技大学 https://pypi.mirrors.ustc.edu.cn/simple/
豆瓣(douban) http://pypi.douban.com/simple/
清华大学 https://pypi.tuna.tsinghua.edu.cn/simple/

我使用中国科技大学的镜像，安装成功，具体代码如下：

pip install pdfplumber -i https://pypi.mirrors.ustc.edu.cn/simple/

得到结果：

二、识别单个pdf的内容

1   识别单页的内容首先看下要识别的pdf长什么样。然后介绍识别单页内容的代码，具体如下：

import pdfplumber as plb

#识别单页的文字
file_path = r'F:\公众号\74_pdf英文翻译\murphy1996.pdf'
with plb.open(file_path) as pdf:
    page = pdf.pages[0]
    print(page.extract_text())
file_path：存放英文pdf的路径。

pdf.pages[0]：要识别内容的页，数值0代表第一页，依次类推。
page.extract_text())：提取出页面的内容。

得到结果：

Medical and Pediatric Oncology 27:62-63 (1996)
Ecthyma Gangrenosum Occurring at Sites of Iatrogenic Trauma in Pediatric
Oncology Patients
0.M urphy, MB, BCh, BAO, MRCPI, P.J. Marsh, BSC, MB, ChB, MRCPath,
s.1.
j. Gray, MB, ChB, MRCP, MARCPath, Pedler, MB, ChB, MRCPath, and
j. Kernahan, MB, BS, FRcP(Ed) DCH
We report two cases of ecthyma gan- mary skin lesion. Both required prolonged
grenosum which occurred at sites of iatro- courses of antibiotics and one patient died.
genic trauma. The first case developed due The different pathogenic mechanisms and
to metastatic seeding with Pseudornonas outcomes associated with this condition are
aeruginosa during an episode of septicaemia discussed. 01996 Wiley-Liss, Inc.
and the second case occurred as a pri-
Key words: ecthyma gangrenosum, Pseudomonas aeruginosa, iatrogenic
INTRODUCTION ate. No further lesions developed during the remainder of
her treatment.
Ecthyma gangrenosum (EG) is a well recognized cuta-
neous manifestation of P.a eruginosa infections in immu- Case 2
nocompromised patients [ 11. We report two cases of EG
A 13-month-old girl was admitted for investigation of
occurring at sites of iatrogenic trauma in pediatric oncol-
pancytopenia. A diagnosis of aplastic anaemia was made
ogy patients and demonstrate important pathogenic and
following left iliac crest marrow aspirate and trephine
clinical features of this condition.
bone biopsy. She became pyrexial on day 10 following
admission but repeated blood cultures were negative. On
day 24, a 1 cm2 sloughing necrotic area surrounded by
CASE REPORTS purplish erythema was noted at the bone marrow Sam-
pling site. At this time her Hb was 6.6 g/dl and WCC was
Case 1
2.4 X 109/L( neutrophils 0.6 X 109/L). She was treated
A 2-year-old girl with acute lymphoblastic leukaemia
empirically with azlocillin and gentamicin. P. aerugi-
was admitted with a fever, 2 weeks after a course of
nma was isolated from the lesion swab and a diagnosis of
chemotherapy which included intrathecal methotrexate.
EG was made. Blood cultures remained sterile and radio-
She was profoundly neutropenic (WCC 2.2 X lo9 /L, no logical examination did not reveal any evidence of bony
neutrophils). Physical, examination revealed a swollen,
involvement. Despite prolonged antibiotic and topical
erythematous area with a central black eschar over the
therapy, the iliac crest lesion failed to improve. On day
lumbar puncture site. She was commenced empirically
32, she became pyrexial and Enterobacter sp. was iso-
on imipenem-cilastatin and teicoplanin. Following isola-
lated from two blood cultures. She was treated with intra-
tion of P. aeruginosa from both blood cultures and lesion
venous gentamicin and ciprofloxacin. Throughout her
swab, a diagnosis of EG was made and therapy was
illness she required numerous transfusions with platelets
changed to ceftazidime and amikacin. Radiological as-
and red blood cells. A suitable bone marrow donor could
sessment of the lumbar spine did not reveal any evidence
of bony involvement. She became apyrexial on day 3 as
her neutropenia began to recover. She did not require
From the Departments of Microbiology (O.M., P.J.M., J.G., S .J.P.),
treatment with colony stimulating factors. Antimicrobials
and Child Health (J.K.), Royal Victoria Infirmary, Newcastle upon
were discontinued on day 17. Topical silver sulphadia- Tyne, UK.
zine was continued for a further 4 weeks as the lesion
Received April 6, 1995; accepted August 21, 1995
healed slowly by granulation from the base.
Address reprint requests to 0. Murphy, M.B., B.Ch., B.A.O.,
For subsequent chemotherapy, high dose intravenous
M.R.C.P.I., Department of Microbiology, Royal Victoria Infirmary,
methotrexate was substituted for intrathecal methotrex- Queen Victoria Road, Newcastle upon Tyne NEl 4LP, UK.
0 1996 Wiley-Liss, Inc.

可以对比pdf的第一页，结果是一致的。



2   识别所有页的内容
如果要识别pdf所有页的内容，可以用for循环实现，具体代码如下：
#识别所有页的文字
with plb.open(file_path) as pdf:
    for page in pdf.pages:
        print(page.extract_text())
得到结果：
Medical and Pediatric Oncology 27:62-63 (1996)
Ecthyma Gangrenosum Occurring at Sites of Iatrogenic Trauma in Pediatric
Oncology Patients
0.M urphy, MB, BCh, BAO, MRCPI, P.J. Marsh, BSC, MB, ChB, MRCPath,
s.1.
j. Gray, MB, ChB, MRCP, MARCPath, Pedler, MB, ChB, MRCPath, and
j. Kernahan, MB, BS, FRcP(Ed) DCH
We report two cases of ecthyma gan- mary skin lesion. Both required prolonged
grenosum which occurred at sites of iatro- courses of antibiotics and one patient died.
genic trauma. The first case developed due The different pathogenic mechanisms and
to metastatic seeding with Pseudornonas outcomes associated with this condition are
aeruginosa during an episode of septicaemia discussed. 01996 Wiley-Liss, Inc.
and the second case occurred as a pri-
Key words: ecthyma gangrenosum, Pseudomonas aeruginosa, iatrogenic
INTRODUCTION ate. No further lesions developed during the remainder of
her treatment.
Ecthyma gangrenosum (EG) is a well recognized cuta-
neous manifestation of P.a eruginosa infections in immu- Case 2
nocompromised patients [ 11. We report two cases of EG
A 13-month-old girl was admitted for investigation of
occurring at sites of iatrogenic trauma in pediatric oncol-
pancytopenia. A diagnosis of aplastic anaemia was made
ogy patients and demonstrate important pathogenic and
following left iliac crest marrow aspirate and trephine
clinical features of this condition.
bone biopsy. She became pyrexial on day 10 following
admission but repeated blood cultures were negative. On
day 24, a 1 cm2 sloughing necrotic area surrounded by
CASE REPORTS purplish erythema was noted at the bone marrow Sam-
pling site. At this time her Hb was 6.6 g/dl and WCC was
Case 1
2.4 X 109/L( neutrophils 0.6 X 109/L). She was treated
A 2-year-old girl with acute lymphoblastic leukaemia
empirically with azlocillin and gentamicin. P. aerugi-
was admitted with a fever, 2 weeks after a course of
nma was isolated from the lesion swab and a diagnosis of
chemotherapy which included intrathecal methotrexate.
EG was made. Blood cultures remained sterile and radio-
She was profoundly neutropenic (WCC 2.2 X lo9 /L, no logical examination did not reveal any evidence of bony
neutrophils). Physical, examination revealed a swollen,
involvement. Despite prolonged antibiotic and topical
erythematous area with a central black eschar over the
therapy, the iliac crest lesion failed to improve. On day
lumbar puncture site. She was commenced empirically
32, she became pyrexial and Enterobacter sp. was iso-
on imipenem-cilastatin and teicoplanin. Following isola-
lated from two blood cultures. She was treated with intra-
tion of P. aeruginosa from both blood cultures and lesion
venous gentamicin and ciprofloxacin. Throughout her
swab, a diagnosis of EG was made and therapy was
illness she required numerous transfusions with platelets
changed to ceftazidime and amikacin. Radiological as-
and red blood cells. A suitable bone marrow donor could
sessment of the lumbar spine did not reveal any evidence
of bony involvement. She became apyrexial on day 3 as
her neutropenia began to recover. She did not require
From the Departments of Microbiology (O.M., P.J.M., J.G., S .J.P.),
treatment with colony stimulating factors. Antimicrobials
and Child Health (J.K.), Royal Victoria Infirmary, Newcastle upon
were discontinued on day 17. Topical silver sulphadia- Tyne, UK.
zine was continued for a further 4 weeks as the lesion
Received April 6, 1995; accepted August 21, 1995
healed slowly by granulation from the base.
Address reprint requests to 0. Murphy, M.B., B.Ch., B.A.O.,
For subsequent chemotherapy, high dose intravenous
M.R.C.P.I., Department of Microbiology, Royal Victoria Infirmary,
methotrexate was substituted for intrathecal methotrex- Queen Victoria Road, Newcastle upon Tyne NEl 4LP, UK.
0 1996 Wiley-Liss, Inc.
EG at Sites of Iatrogenic Trauma 63
not be found. A 2-week course of GMCSF was started on In case 1, we believe that seeding to an area of trauma-
day 53 but no improvement in her haematological param- tised skin occurred during bacteraemia. Early recognition
eters was seen and her general condition continued to and aggressive treatment may have played a role in con-
deteriorate. On day 85, she again became pyrexial and a trolling the primary septicaemia but recovery of the pa-
1. O X 1.5 cm ulcer on her right labium majus was noted. tient’s bone marrow probably contributed more to the
Her WCC was 0.4 X 109/L. P. aeruginosa was isolated long-term outcome. In case 2, repeated negative blood
from blood cultures for the first time. Despite aggressive cultures suggest that EG occurred as a primary lesion at a
antibiotic and antifungal treatment, further lesions devel- site of prior skin trauma. Despite aggressive treatment,
oped on her face and chest and she subsequently died. persistent profound neutropenia was associated with fail-
ure of the lesion to resolve and the development of a
secondary bacteraemia and further lesions.
DISCUSSION
Paediatric oncology patients are frequently subject to
Although not pathognomic, ecthyma gangrenosum is a invasive procedures involving minor skin trauma which
well recognised manifestation of P. aeruginosa infection may predispose them to infection with various organisms
in immunocompromised patients. Factors such as neutro- including P. aeruginosa. EG is an extremely difficult
penia, use of bread spectrum antibiotics, loss of skin condition to treat and a high index of suspicion in this
integrity, and moist conditions have been shown to pre- at-risk population is required to ensure early diagnosis
dispose to infection with P. aeruginosa and the develop- and optimum treatment.
ment of EG [2]. Two possible pathogenic mechanisms in
the development of this condition have been postulated
[2,3]. In classic or bacteraemic EG, the lesion is consid-
ered to represent blood-borne metastatic seeding of P.
aeruginosa to the skin. In non-bacteraemic or primary REFERENCES
EG, the lesion is located at the site of entry of the organ-
1. Dorff GJ, Geimer NF, Rosenthal DR, et al.: Pseudornonas septice-
ism into the skin. In these cases the lesions have been
mia: illustrated evolution of its skin lesions. Arch Intern Med 128:
found to occur more commonly in the distribution of 591, 1971.
exocrine glands and secondary bacteraemia has rarely 2 El Baze P, Thyss A, Vinti H, Deville A, Dellamonica P, Ortonne
been reported. Early diagnosis and aggressive therapy are J-P: A study of nineteen immunocompromised patients with exten-
sive skin lesions caused by Pseudomonas aeruginosa with and
important in the management of these patients. Although
without bacteraemia. Acta Derm Venereol (Stockh) 71:411-415,
patients with non-bacteraemic lesions have generally
1991.
been found to have a better prognosis than those with 3. Huminer D, Siegman-Igra Y, Morduchowicz G, Pitlik SD: Ec-
bacteraemic EG [3,4], our experience of survival ulti- thyma gangrenosum without bacteraemia. Report of six cases and a
mately being determined by recovery of neutrophils con- review of the literature. Arch Intern Med 147:299-301, 1987.
4. Fergie JE, Patrick CP, Lott L: Pseudomonas aeruginosa cellulitis
firms that of others [5].
and ecthyma gangrenosum in imrnunocompromised children. Pedi-
To our knowledge, these are the first reports of EG atr Infect Dis J 10:496-500, 1991.
occurring at sites of iatrogenic trauma in paediatric oncol- 5. Greene SL, Daniel Su WP, Muller SA: Ecthyma gangrenosurn:
ogy patients. The only previous report was in an adult report of clinical, histopathologic, and bacteriologic aspects of
with AML who developed EG at the site of placement of eight cases. J Am Acad Dermatol 11:781-787, 1984.
6. Klepflish A, Bembi A. Ecthyma gangrenosum caused by a roving
an ECG electrode [6]. In this case, skin trauma coincided
chest electrode in an acute myeloid leukaemia patient with
with a documented P. aeruginosa septicaemia and meta-
Pseudomonas septicaemia [Letterl. J Am Acad Dermatol 18585-
static seeding was felt to have occurred. 586, 1988.



三、识别文件夹中所有pdf的内容

最后应用循环依次打开文件夹中的文件，识别文件中每一页对应的英文。 由于是测试代码，所以只在文件夹中放了两个文件。

具体识别代码如下： import os folder_path = r"F:\公众号\74_pdf英文翻译\cs" #文件夹路径 file_list = os.listdir(folder_path) #获取文件夹中所有文件的文件名 j =1 for file_name in file_list: print('===================第', j, '个文件=====================') j += 1 print(file_name) #打印文件夹中的文件名 file_path = folder_path + '\\' + file_name with plb.open(file_path) as pdf: k = 1 for page in pdf.pages: print(' ') print('第',k, '页') k += 1 print(page.extract_text()) 得到结果： ===================第 1 个文件===================== murphy1996.pdf 第 1 页 Medical and Pediatric Oncology 27:62-63 (1996) Ecthyma Gangrenosum Occurring at Sites of Iatrogenic Trauma in Pediatric Oncology Patients 0.M urphy, MB, BCh, BAO, MRCPI, P.J. Marsh, BSC, MB, ChB, MRCPath, s.1. j. Gray, MB, ChB, MRCP, MARCPath, Pedler, MB, ChB, MRCPath, and j. Kernahan, MB, BS, FRcP(Ed) DCH We report two cases of ecthyma gan- mary skin lesion. Both required prolonged grenosum which occurred at sites of iatro- courses of antibiotics and one patient died. genic trauma. The first case developed due The different pathogenic mechanisms and to metastatic seeding with Pseudornonas outcomes associated with this condition are aeruginosa during an episode of septicaemia discussed. 01996 Wiley-Liss, Inc. and the second case occurred as a pri- Key words: ecthyma gangrenosum, Pseudomonas aeruginosa, iatrogenic INTRODUCTION ate. No further lesions developed during the remainder of her treatment. Ecthyma gangrenosum (EG) is a well recognized cuta- neous manifestation of P.a eruginosa infections in immu- Case 2 nocompromised patients [ 11. We report two cases of EG A 13-month-old girl was admitted for investigation of occurring at sites of iatrogenic trauma in pediatric oncol- pancytopenia. A diagnosis of aplastic anaemia was made ogy patients and demonstrate important pathogenic and following left iliac crest marrow aspirate and trephine clinical features of this condition. bone biopsy. She became pyrexial on day 10 following admission but repeated blood cultures were negative. On day 24, a 1 cm2 sloughing necrotic area surrounded by CASE REPORTS purplish erythema was noted at the bone marrow Sam- pling site. At this time her Hb was 6.6 g/dl and WCC was Case 1 2.4 X 109/L( neutrophils 0.6 X 109/L). She was treated A 2-year-old girl with acute lymphoblastic leukaemia empirically with azlocillin and gentamicin. P. aerugi- was admitted with a fever, 2 weeks after a course of nma was isolated from the lesion swab and a diagnosis of chemotherapy which included intrathecal methotrexate. EG was made. Blood cultures remained sterile and radio- She was profoundly neutropenic (WCC 2.2 X lo9 /L, no logical examination did not reveal any evidence of bony neutrophils). Physical, examination revealed a swollen, involvement. Despite prolonged antibiotic and topical erythematous area with a central black eschar over the therapy, the iliac crest lesion failed to improve. On day lumbar puncture site. She was commenced empirically 32, she became pyrexial and Enterobacter sp. was iso- on imipenem-cilastatin and teicoplanin. Following isola- lated from two blood cultures. She was treated with intra- tion of P. aeruginosa from both blood cultures and lesion venous gentamicin and ciprofloxacin. Throughout her swab, a diagnosis of EG was made and therapy was illness she required numerous transfusions with platelets changed to ceftazidime and amikacin. Radiological as- and red blood cells. A suitable bone marrow donor could sessment of the lumbar spine did not reveal any evidence of bony involvement. She became apyrexial on day 3 as her neutropenia began to recover. She did not require From the Departments of Microbiology (O.M., P.J.M., J.G., S .J.P.), treatment with colony stimulating factors. Antimicrobials and Child Health (J.K.), Royal Victoria Infirmary, Newcastle upon were discontinued on day 17. Topical silver sulphadia- Tyne, UK. zine was continued for a further 4 weeks as the lesion Received April 6, 1995; accepted August 21, 1995 healed slowly by granulation from the base. Address reprint requests to 0. Murphy, M.B., B.Ch., B.A.O., For subsequent chemotherapy, high dose intravenous M.R.C.P.I., Department of Microbiology, Royal Victoria Infirmary, methotrexate was substituted for intrathecal methotrex- Queen Victoria Road, Newcastle upon Tyne NEl 4LP, UK. 0 1996 Wiley-Liss, Inc. 第 2 页 EG at Sites of Iatrogenic Trauma 63 not be found. A 2-week course of GMCSF was started on In case 1, we believe that seeding to an area of trauma- day 53 but no improvement in her haematological param- tised skin occurred during bacteraemia. Early recognition eters was seen and her general condition continued to and aggressive treatment may have played a role in con- deteriorate. On day 85, she again became pyrexial and a trolling the primary septicaemia but recovery of the pa- 1. O X 1.5 cm ulcer on her right labium majus was noted. tient’s bone marrow probably contributed more to the Her WCC was 0.4 X 109/L. P. aeruginosa was isolated long-term outcome. In case 2, repeated negative blood from blood cultures for the first time. Despite aggressive cultures suggest that EG occurred as a primary lesion at a antibiotic and antifungal treatment, further lesions devel- site of prior skin trauma. Despite aggressive treatment, oped on her face and chest and she subsequently died. persistent profound neutropenia was associated with fail- ure of the lesion to resolve and the development of a secondary bacteraemia and further lesions. DISCUSSION Paediatric oncology patients are frequently subject to Although not pathognomic, ecthyma gangrenosum is a invasive procedures involving minor skin trauma which well recognised manifestation of P. aeruginosa infection may predispose them to infection with various organisms in immunocompromised patients. Factors such as neutro- including P. aeruginosa. EG is an extremely difficult penia, use of bread spectrum antibiotics, loss of skin condition to treat and a high index of suspicion in this integrity, and moist conditions have been shown to pre- at-risk population is required to ensure early diagnosis dispose to infection with P. aeruginosa and the develop- and optimum treatment. ment of EG [2]. Two possible pathogenic mechanisms in the development of this condition have been postulated [2,3]. In classic or bacteraemic EG, the lesion is consid- ered to represent blood-borne metastatic seeding of P. aeruginosa to the skin. In non-bacteraemic or primary REFERENCES EG, the lesion is located at the site of entry of the organ- 1. Dorff GJ, Geimer NF, Rosenthal DR, et al.: Pseudornonas septice- ism into the skin. In these cases the lesions have been mia: illustrated evolution of its skin lesions. Arch Intern Med 128: found to occur more commonly in the distribution of 591, 1971. exocrine glands and secondary bacteraemia has rarely 2 El Baze P, Thyss A, Vinti H, Deville A, Dellamonica P, Ortonne been reported. Early diagnosis and aggressive therapy are J-P: A study of nineteen immunocompromised patients with exten- sive skin lesions caused by Pseudomonas aeruginosa with and important in the management of these patients. Although without bacteraemia. Acta Derm Venereol (Stockh) 71:411-415, patients with non-bacteraemic lesions have generally 1991. been found to have a better prognosis than those with 3. Huminer D, Siegman-Igra Y, Morduchowicz G, Pitlik SD: Ec- bacteraemic EG [3,4], our experience of survival ulti- thyma gangrenosum without bacteraemia. Report of six cases and a mately being determined by recovery of neutrophils con- review of the literature. Arch Intern Med 147:299-301, 1987. 4. Fergie JE, Patrick CP, Lott L: Pseudomonas aeruginosa cellulitis firms that of others [5]. and ecthyma gangrenosum in imrnunocompromised children. Pedi- To our knowledge, these are the first reports of EG atr Infect Dis J 10:496-500, 1991. occurring at sites of iatrogenic trauma in paediatric oncol- 5. Greene SL, Daniel Su WP, Muller SA: Ecthyma gangrenosurn: ogy patients. The only previous report was in an adult report of clinical, histopathologic, and bacteriologic aspects of with AML who developed EG at the site of placement of eight cases. J Am Acad Dermatol 11:781-787, 1984. 6. Klepflish A, Bembi A. Ecthyma gangrenosum caused by a roving an ECG electrode [6]. In this case, skin trauma coincided chest electrode in an acute myeloid leukaemia patient with with a documented P. aeruginosa septicaemia and meta- Pseudomonas septicaemia [Letterl. J Am Acad Dermatol 18585- static seeding was felt to have occurred. 586, 1988. ===================第 2 个文件===================== zori1998.pdf 第 1 页 American Journal of Medical Genetics 80:399–402 (1998) Germline PTEN Mutation in a Family With Cowden Syndrome and Bannayan-Riley-Ruvalcaba Syndrome RobertoT.Zori,1* DebbieJ.Marsh,2 GailE.Graham,3 ErrolB.Marliss,4 and CharisEng2,5 1DivisionofGenetics,DepartmentofPediatrics,UniversityofFlorida,Gainesville,Florida 2TranslationalResearchLaboratory,CharlesA.DanaHumanCancerGeneticsUnit,DepartmentofAdultOncology, Dana-FarberCancerInstitute,DepartmentofMedicine,HarvardMedicalSchool,Boston,Massachusetts 3DepartmentofMedicalGenetics,UniversityofCalgary,Calgary,Alberta,Canada 4McGillNutritionandFoodScienceCentre,FacultyofMedicine,McGillUniversity,Montreal,Quebec,Canada 5CancerResearchCampaign,HumanCancerGeneticsResearchGroup,UniversityofCambridge, Cambridge,UnitedKingdom Clinical overlap between Cowden disease nayan-Riley-Ruvalcaba (BRR) syndrome [Cohen, and Bannayan-Riley-Ruvalcaba syndrome 1990]. Clinical overlap with Cowden disease has not has rarely been described and identical been well described in the literature; however, identi- germline mutations in the PTEN gene have cal germline mutations in the PTEN gene have been been demonstrated in a few families with demonstrated in some families with Cowden disease Cowden disease and some cases of Ban- [Liaw et al., 1997] as well as rare cases of BRR syn- nayan-Riley-Ruvalcaba syndrome. We re- drome [Marsh et al., 1998]. We report on a germline portonamotherwithCowdendiseaseanda PTENmutationinafamilyconsistingofayoungman son with Bannayan-Riley-Ruvalcaba syn- with BRR syndrome and his mother with Cowden dis- drome. Mutation analysis of the PTEN gene ease, perhaps suggesting that Cowden disease and demonstratedaheterozygousnonsensemu- BRR syndrome are manifestations of the same single tationR130Xinbothindividuals.Thismight gene disorder. suggestthatCowdendiseaseandBannayan- Riley-Ruvalcaba syndrome are one causal CLINICAL REPORT entity. Am. J. Med. Genet. 80:399–402, 1998. ©1998Wiley-Liss,Inc. This18-year-oldmanwasinitiallyseeninthegenet- icsclinicatage11yearsforseveredevelopmentaldelay KEY WORDS: Cowden disease; Bannayan- and autistic behavior. He was born after a pregnancy Riley-Ruvalcaba syndrome; complicatedbymaternalthyroidadenomaat16weeks PTEN;thyroidcancer;polyp- of gestation. The adenoma was treated by partial thy- osis; Bannayan-Zonana syn- roidectomy followed by thyroid supplementation. In drome; Ruvalcaba-Myhre the last trimester, the mother had toxemia and the syndrome child was born at term by forceps delivery. The amni- oticfluidwasmeconiumstainedbuttherewerenoneo- natalcomplications.Birthweightwas3.43kg.Hehad INTRODUCTION diarrheafrequentlyandoccasionalvomitingininfancy; although he was switched from cow to soy milk at 5 Thereissignificantclinicaloverlapbetweenthephe- months,nolactoseallergyorintolerancecouldbedem- notypes described as Ruvalcaba-Myhre-Smith syn- onstrated. In early childhood, he developed melena drome, Bannayan-Zonana syndrome, and Riley-Smith that resolved after removal of a few rectal polyps, and syndrome to warrant unification under the term Ban- the pathology report showed benign pseudopolyp with telagiectatic vessels in an inflammed myxoid stroma. Facialandpedalmaculeswereremoved.Thehistologi- calreportdescribedtheleftfootmaculeasaveryearly Contract grant sponsor: Raymond C. Philips Research and junctional nevus, the right foot macule as a dysplastic EducationContract,Children’sMedicalServices,Departmentof junctional nevus, and the right cheek macule as an ChildrenandFamilies,StateofFlorida. intradermalnevuswithfeaturesofacongenitalnevus *Correspondenceto:RobertoT.Zori,M.D.,DepartmentofPe- diatrics, P.O. Box 100296, JHMHC, University of Florida, and focal superficial atypia. He also had surgery for Gainesville,FL32606.E-mail:ZORIRT@Peds.ufl.edu inguinal hernias. He had some truncal hypotonia that Received30April1998;Accepted23June1998 resolved,buthefirstwalkedat2years,startedsaying © 1998 Wiley-Liss, Inc. 第 2 页 400 Zorietal. single words at 2 years, and two-to-three-word sen- tencesat5.HisverbalandperformanceIQswere40at 11years.Magneticresonanceimageofthehead,nerve conduction studies, and electroencephalogram were normal. He had extensive neurological and metabolic studies. Results of a muscle biopsy were normal as were those of urine organic acids and quantitative se- rum amino acids. He had no acidosis although he has hadinconsistentlymildlyelevatedlactatelevels.Alac- tatetopyruvateratioinfibroblastswasatthelowend of the normal range and pyruvate oxidation in fibro- blastswasreducedtoabout50%ofnormal.Themuscle biopsyshowednormalpyruvatedehydrogenase(PDH) complex activity and the PDH complex activity in youngfibroblastswasjustunderthenormalrange,and in older passage cells, the activity was low. A blood karyotypeincludinghighresolutionforchromosomeX and 10 was normal. He occasionally had uncharacter- isticshort‘‘spells’’butdefiniteseizureactivitywasnot Fig.2. MotherwithCowdendiseaseshowingoralregionandtongue. documented. He developed a goiter at 18 years for which he had a left hemithyroidectomy, and a tumor wasalsoexcisedfromtherightside.Theleftlobecon- had thyroid surgery for a large adenoma and was on tainedaninsular(follicular)carcinomawhiletheright thyroid supplementation. She had polyposis of the en- showed nodular hyperplasia with a focus of papillary tire gastrointestinal canal. A mammogram showed bi- microcarcinoma. lateral fibroglandular tissue with single well-defined His family history is remarkable in that his mother benign nodules in each side with mild dysplasia. An (Fig. 1) also has a large head (59 1⁄ cm) and has mul- abdominal ultrasound study demonstrated stones bi- 2 tiplesmallpapulesonhertongueandmouth(Fig.2).A laterallythatweretreatedbylithotrypsyandahepatic dentist had informed her, based on clinical findings, subscapular hemangioma measuring 1.4 cm in diam- that she had Cowden syndrome. A biopsy from one of eter. A computed tomographic scan of the abdomen the papules showed irregular acanthosis with pseudo- demonstratedalargelipomaintheleftiliopsoasarea. epitheliomatoushyperplasiaandchronicinflammation She also had fibromata of the uterus. The father was ofsubmucosa.Abiopsyreportfromapapuleoftheleft healthy with no medical problems. His physical find- foot showed focal acanthosis and hyperkeratosis. She ingswerenormalexceptforaheadcircumferenceof60 1⁄ 2cm.Abrotherandsisterweredevelopmentallynor- mal.Theyhadnohyperpigmentedlesionsandnomedi- cal problems. A maternal grandfather had metastatic thyroid cancer and died of leukemia. A brother of the maternal grandfather died of colon cancer at age 70 years. The maternal grandmother had a gastric lym- phomaandalargeheadbyreportandhermotherhad thyroid surgery in her forties. Onphysicalexaminationatage11years,thepatient hadaheadsizethatwas59cmandnormalheightand weight.Hisjawappearedlargebuttherewerenoother anomalies (Fig. 3). His tongue appeared normal and there were no tumors or oral mucocutaneous anoma- lies.Hehadtwodarklypigmentedlesionsonthesoles ofhisfeetandtwoonhisface.Hehadmultiplehyper- pigmentedmaculesontheglansandshaftofhispenis (Fig. 4) , with otherwise normal genitalia. He had no hypotonia but a slight tremor and apparently de- creasedattentionspanwithprominentuseofoneword communicationandperseverations.Helackedthesec- ondtoes.Therestofthephysicalexamwasunremark- able.Atage18years,hisconditionwasunchangedbut hehaddevelopedafewmoremaculesonhisfacewhile the original macules had grown. Becauseupto80%ofclassicCowdensyndromefami- liesandapproximately50%ofBRRfamiliesandcases have been found to have germline PTEN mutation [Marshetal.,1998]wedecidedtodeterminethePTEN Fig.1. MotherwithCowdendisease. status in this family segregating both Cowden syn- 第 3 页 PTENMutation 401 Fig.3. IndexpatientwithBRRsyndrome. Fig.4. GenitaliaofindexpatientwithBRRsyndromeshowingirregu- larpigmentarychanges. dromeandBRR.GenomicDNAwasextractedfrompe- ripheral blood leukocytes of the propositus and his mother. Using three independent mutation detection manifesting either as BRR syndrome or Cowden dis- methods, denaturing gradient gel electrophoresis ease.ThissuggeststhatCowdendiseaseandBRRsyn- (DGGE), temporal temperature gel electrophoresis drome should be considered as one entity. The ex- (TTGE), and direct sequencing [Marsh et al., 1998; tremely variable interfamiliar and intrafamiliar ex- Marsh et al., in press], revealed a mutation within pression has to be explained by genetic or epigenetic exon5ofthegene.BoththemotherwithCowdensyn- modification. The aggravation of findings in subse- dromeandhersonwithBRRwereshowntoharborthis quent generations seen in this family confirms a prior germline nonsense mutation at codon 130, R130X, reportthatsuggestsanticipation[Starinketal.,1986]. whichlieswithinthephosphatasecoremotif.Asecond Imprinting is also implicated since transmission phlebotomy from the mother was performed for pur- throughfemalesappearstoleadtomoresevereexpres- posesofreconfirmingthemutation,andagaintheger- sion whereas transmission through males does not mline PTEN mutation R130X was demonstrated. seem to affect severity [Hanssen et al., 1993]. DISCUSSION ACKNOWLEDGMENTS Thisyoungmanhaspenilelentigines,macrocephaly, Supported in part by the Raymond C. Philips Re- learning disabilities, hamartomatous gastrointestinal search and Education Contract, Children’s Medical polyps, and thyroid disease, findings consistent with Services, Department of Children and Families, State BRRsyndrome.Themotherhasmucocutanouslesions, ofFlorida.Wethankthefamilywhoparticipatedinthe gastrointestinal polyps, a thyroid tumor, a lipoma, fi- study,andLarryComptonforeditorialassistance.We broids,andmacrocephaly,thefindingsofCowdensyn- thank Dr. Peter Chauvin, Dental Pathology, McGill drome[Cohen,1990].Furthermore,themother’sclini- University,Dr.ManonAuger,SurgicalPathology,Mc- cal features make the International Cowden Consor- Gill University, and Dr. Brian Robinson, Department tium diagnostic criteria for Cowden syndrome [Eng, of Genetics, Hospital for Sick Children, Toronto, for 1997].ThegermlinePTENmutation,R130X,foundin their data. thisfamilywithbothCowdensyndromeandBRRhave beenpreviouslydescribedinatleastthreefamilieswith REFERENCES classicCowdensyndrome[Marshetal.,1998;Nelenet al.,1997].ThatR130Xsegregatesinthisfamily,there- CohenMM(1990):Bannayan-Riley-Ruvalcabasyndrome:Renamingthree fore,appearstohaveanautosomaldominantcondition syndromesasoneetiologicentity.AmJMedGenet35:291. 第 4 页 402 Zorietal. 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MarshDJ,DahiaPLM,ZhengZ,LiawD,ParsonsR,GorlinRJ,EngC NelenMR,PadbergGW,PeetersEAJ,LinAY,vandenHelmB,FrantsRR, (1997):GermlinemutationsinPTENarepresentinBannayan-Zonana CoulonV,GoldsteinAM,vanReenMMM,EastonDF,EelesRA,Hodg- syndrome.NatGenet16:333–334. sonS,MulivhillJJ,MurdayVA,TuckerMA,MarimanECM,Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C (1996): MarshDJ,CoulonV,LunettaKL,Rocca-SerraP,DahiaPLM,ZhengZ, LocalizationofthegeneforCowdendiseaseto10q22-23.NatGenet LiawD,CaronS,DuboueB,LinAY,RichardsonAL,BonnetblancJM, 13:114–116. BressiuxJM,Cabarrot-MorreauA,ChompretA,DemangeL,EelesRA, YahandaAM,FearonER,FrickerJP,GorlinRJ,HodgsonSV,HusonS, StarinkTM,vanderVeenJPW,ArwertF,deWaalLP,deLangeGG,Gille Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, JJP,ErikssonAW(1986):TheCowdensyndrome:Aclinicalandgenetic TishlerS,WoodsCG,RobinsonBG,WeberHC,ParsonsR,PeacockeM, studyin21patients.ClinGenet29:222–233. 至此，Python批量识别pdf中英文的方法已讲解完毕，需要的朋友可以自己跟着代码尝试一遍

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