Rev. Bras. Anestesiol. vol.64 número3

RevBrasAnestesiol.2014;64(3):201---204

REVISTA

BRASILEIRA

DE

ANESTESIOLOGIA

CLINICAL

INFORMATION

Anesthesia

for

a

patient

with

Fanconi

anemia

for

developmental

dislocation

of

the

hip:

a

case

report

Zafer

Dogan

,

Huseyin

Yildiz

,

Ismail

Coskuner

,

Murat

Uzel

,

Mesut

Garipardic

a_{DepartmentofAnesthesiologyandIntensiveCare,BezmialemVakifUniversityMedicalSchool,Istanbul,Turkey}

b_{DepartmentofAnesthesiologyandIntensiveCare,KahramanmarasSutcuImamUniversity,MedicalSchool,Kahramanmaras,}

Turkey

c_{DepartmentofOrthopedicsandTraumatology,KahramanmarasSutcuImamUniversity,MedicalSchool,Kahramanmaras,Turkey} d_{DepartmentofPediatrics,KahramanmarasSutcuImamUniversity,MedicalSchool,Kahramanmaras,Turkey}

Received12November2012;accepted19December2012 Availableonline23October2013

KEYWORDS

Fanconianemia; Caudalanesthesia; Developmental dislocationofthehip

Abstract Fanconianemia isarare autosomal recessiveinheritedbonemarrow failure

syn-drome withcongenitalandhematological abnormalities.Literatureregardingtheanesthetic managementinthesepatientsislimited.Amanagementofadevelopmentaldislocationofthe hipwasdescribedinapatientwithfanconianemia.Becauseoftheheterogeneousnature,a patientwithfanconianemiashouldbeestablishedthoroughpreoperativeevaluationinorderto diagnoseonclinicalfeatures.Inconclusion,wepreferredcaudalanesthesiainthispatientwith fanconi anemiawithoutthrombocytopenia, becauseofavoidingfromN2O,reducingamount

ofanesthetic, existing microcephaly, hypothyroidismand elevatedliver enzymes, providing postoperativeanalgesia,andreducingamountofanalgesicusedpostoperatively.

© 2013SociedadeBrasileirade Anestesiologia.Publishedby ElsevierEditoraLtda.Allrights reserved.

Introduction

Fanconianemia(FA)isarareautosomalrecessiveinherited bonemarrowfailuresyndrome,characterizedbyincreased chromosomalfragility,andgenerallyassociatedwith multi-plecongenitalanomalies.1

Literatureregardingtheanestheticmanagementinthese patientsislimited.Amanagementofadevelopmental dis-locationofthehipwasdescribedinapatientwithFA.

∗_{Correspondingauthor.}

E-mail:[email protected](Z.Dogan).

Case

report

A2.5-year-oldgirl,borntofirstdegreeconsanguineous par-entspresentedwithafailuretowalking.Shewasdelivered by spontaneous vaginal in time and small for gestational age,weighing2.2kgatbirth.Physicalexaminationrevealed retarded growth (5.7kg weight and 68cm height) with absenceof bilateral thumb (Fig. 1),café au lait spots at back,hypopigmentationatabdomen,generalized hyperpig-mentation,andmicrocephaly.

Laboratory investigations did not reveal pancytope-nia; hemoglobin, WBC and platelets were 11.4gdl−1_,

7.4×103dl−1_and162×103_dl−1_{respectively.ALP,GGTand}

0104-0014/$–seefrontmatter©2013SociedadeBrasileiradeAnestesiologia.PublishedbyElsevierEditoraLtda.Allrightsreserved.

202 Z.Doganetal.

Figure1 Absenceofthethumb.

LDHlevelswereelevatedand564,420and289respectively. Ultrasoundrevealedhypoplastichorseshoekidney.

The patient’s medication included only levothyroxine becauseofhypothyroidism.NomedicationexistrelatedFA. Other investigations including electrolytes, BUN, cre-atinine, bilirubins, AST, ALT, prothrombin time, partial thromboplastintime,ECG, and echocardiogramwere nor-mal.Thepatientwaseuthyroidic.

Evaluation of the airway revealed no abnormalities, exceptmicrocephaly,andvitalsignswerenormal.Adequate bloodandbloodproductsordereddependingonthe proce-dure.

Nomedicationwasadministeredpriortotheprocedure apart from antibiotics. Anesthesia was induced with 8% sevofluranein100%oxygen.Afterperipherali.v.accesswas secured,she wasturnedtothe leftlateral position. Cau-dalblock was performed by using a 22-gauge short-bevel needleunderasepticconditionswithbupivacaine0.25%at 1mlkg−1_{.Aftercaudalblockadeinhalationanesthesiawas}

loweredto0.5---1% in 100%oxygenin ordertoobtain4 or 5point ofRamsay sedationscale. Peripheraloxygen satu-ration(SpO2), heart rate, noninvasiveblood pressureand end-tidalCO2(ETCO2)weremonitoredthroughoutsurgery. Ventilationwasmaintainedviaanoxygenmaskwith2Ldk−1

freshflowspontaneously(Fig.2).

Whole procedure includingopen reductionand putting thelimbinaplastercastfrominductiontorecoverylasted 140minandwasuneventful.Recoverywasfastand unevent-ful.Postoperativeanalgesiawasnotrequiredfortenhours.

Figure2 Thepatientwithfacemaskduringsurgery.

Discussion

Fanconianemiaisan autosomalrecessive disorderinover 99%ofcaseswith25%risktosiblings.1_{TheincidenceofFAis} approximatelythreepermillionandtheheterozygote fre-quencyisestimatedatonein300inEuropeandtheUSA,2 1/100 inAshkenazi JewsandSouthAfricanAfrikaners due to‘‘foundereffect’’.1,3_{Consanguinityhasbeenimplicated} initsincidence.3

Clinical features of FA can be broadly divided into twocategories:congenitalabnormalitiesandhematological abnormalities, which may include altered skin pigmenta-tion and/or café au lait spots, short stature (impaired growth hormone secretion), thumb or thumb and radial anomalies, hip anomalies, vertebral scoliois, rib anoma-lies, male hypogenitalism, mental retardation, anorectal atresia, duodenal atresia, microcephaly, eye anomalies (microphthalmia, strabismus, ptosis, nystagmus), struc-turalrenaldefects,low-birthweight,developmentaldelay, abnormalearsorhearing,andcardiopulmonarydefects.1---3 The most important clinical features of FA are hemato-logical. Pancytopenia is the usual finding and typically presentsbetween theagesof5 and10years,the median age of onset being 7 years.1 _{Clinically, the affected FA} patient may present with bleeding, pallor and/or recur-ring infections.2 _{The major cause of death in FA is bone} marrow failure, followed in frequency by leukemia and solidtumors.Theprojectedmediansurvivalfromallcauses for more than 1000 cases reported in the literature is age 20 years.3 _{Of patients thirty or forty percent lack} obvious physical abnormalities.1---3 _{There is great clinical} heterogeneityevenwithinagenotype(siblingmaybe phe-notypically different).1 _{The gold-standard screening test} for FA is based on the characteristic hypersensitivity of FA cells to the crosslinking agents, such as mitomycin C (MMC) or diepoxybutane (DEB).5 _{FANCA is the most} com-mon complementation group, representing about 70% of cases.1 _{Androgen therapy (oxymetholone), cytokines} (G-CSFand GM-CSF), andsupportive therapies suchasblood and platelet transfusionsform the mainstayof treatment priortoallogeneichematopoieticstemcelltransplantation. Gene therapy is experimental. E-amino caproic acid may be usedfor symptomatic bleeding. Steroids are occasion-ally used.1---3 _{FA frequently terminates in myelodysplastic} syndromeand/orleukemia.1_{Hematopoieticstemcell} trans-plantation (bone marrow, cordblood, or peripheral blood stemcells)maycureaplasticanemiaandprevent myelodys-plasticsyndromeorleukemia.2,3

PatientswithFAmaypresentforproceduressuchas Hick-man catheter insertion for bone marrow transplantation, limb reconstructive surgeries, splenectomy, gastrointesti-nal anomalies, congenital heart defects, trauma or other relatedand/ornon-relatedindications.Theinsufficiencyof literatureregarding anestheticmanagementofthis condi-tion makes it difficult to estimate the real impact of individualanomaliesontheperioperativemanagement.6_It is important toemphasize that of patients thirtyor forty percenthavenoabnormalities.1---3

AnesthesiaandFanconianemia 203

and endocrine evaluation for any component of the dis-easeor anycomplicationofthetreatmentof thedisease. For example hyperbilirubinemia and hepatomegaly with fattyinfiltratescouldbeattributedtotherapywith andro-gen.Alltransfusionsandanytransfusionreactionsmustbe documented.6 _{Adequate blood and blood products should} beordered depending on theprocedure. No family mem-ber should be usedas a blood product donor until it has beendeterminedthatatransplantwillnotbeperformed.3 Leukocyte-filteredbloodproductsshouldbeusedtoreduce reactionsandHLAsensitizationincaseoffuturestemcell transplant.Similarly,single-donorplateletsarepreferredto reducethefrequencyofantibodyformation.3

Because thrombocytopenia usually develops initially,4 particularly, thrombocyte count should be evaluated. Repeatedrespiratorytractinfectionsandneutropenic sep-sismaybepresentbecauseofpancytopenia.Childrenwith neutropenicsepsismayhavesubclinicalcoagulopathythat shouldbecorrectedpreoperatively.7_{Incaseofneutropenia,} itismandatorytomaintainstrictasepticprecautionswhile handlingthesepatients.Bacterialandviralfiltersshouldbe usedinthebreathingcircuits.6

Endocrinopathies are a common feature of FA. In a prospective study of 54 FA patients, it was found that hypothyroidism, impaired glucose tolerance, hyper-insulinemia, and subnormal response to growth hormone stimulation.7 _{A complete endocrine assessment should be} madetodetecttheseaspects.Patients,whoareonsteroid therapy,mustbedocumentedregardingreplacement ther-apy, glucose monitoring, edema, hypokalemia, myopathy, infection,andgastricprophylaxia.

Drug therapy for FA may also have anesthetic impli-cations. Some of the serious adverse effects of androgen include hepatomegaly,cholestatic hepatitis, andelevated liverenzymelevels.3_{Androgensmayincreasethe} anticoag-ulanteffectoforalanticoagulants(warfarin)8_andmayalso increaseinsulineffects.9_{AdverseeffectsofG-CSFtreatment} relevanttoanestheticmanagementincludepericardialand pleuraleffusionsandgeneralizedcapillaryleaksyndromes, whichmayresultininterstitialpulmonaryedemaand arte-rialhypoxemia.10

Otherdrugsandchemicalscausingacquiredaplastic ane-mia should be avoided during the perioperative period. Medicationsinterferewithplateletfunctionshouldnotbe giventothrombocytopenicpatients.3_{Theseincludeaspirin,} antihistamines,andnonsteroidalanti-inflammatorydrugs.6 Normal fasting regimes and minimal monitoring stan-dards,ifanyindicationexist,moremonitorizations,should be applied throughout the perioperative period. Signifi-cant thrombocytopenia,ifpresent, mayprecluderegional anesthesia.Infectiveendocarditisprophylaxishastobe con-sideredforpatientswithcardiacinvolvement.6

A possible anesthetic consideration may include the avoidance of high inspired oxygen concentrations (FiO2). Thereis sensitivitytooxygen-freeradicalsandtoionizing radiation.1 _{Clarke et al.suggest that the sensitivityof FA} group C cells toapoptosis induced by MMC is becauseof reactiveoxygenspeciesgenerationinthepresenceofhigh oxygenconcentrationsandnotDNAcross-linking.11_Low oxy-gentensionorantioxidantsmaybeusedtoimprovegrowth anddecreasespontaneousorinducedchromosomebreaksin FAcells.3

Inthiscasecaudalanesthesiawaspreferredtoavoidfrom N2O,toreduceamountofanestheticagent,toprovide post-operativeanalgesia,andtoreduceamountofnonsteroidal anti-inflammatorydrugsandmorphine.

Caudal epidural blockade is widely used to provide perioperative analgesia in pediatric practice. As a single injection,itoffersareliableandeffectiveblockforpatients undergoingsubumbilicalsurgery.12

Nitrousoxide-inducedbonemarrowdepressionisan addi-tionalconcern.Somestudiessuggestthattheuseofnitrous oxide (N2O) is harmful producing bone marrow suppres-sionasitimpairsmethioninesynthetaseactivity,disturbing folatemetabolismandthus vitaminB12metabolism.13 _On theotherhand,wedonothaveanydatainpatientwithFA. In view of the hepatorenal derangement which can occur any time during the course of the disease, it is imperativetoavoid anestheticagents withpotential hep-atorenal toxicity. In this respect, it may be advisable to avoidhalothane,long-actingmusclerelaxants,nonsteroidal anti-inflammatoryagents, and long-acting opioidssuch as morphine and pethidine.6 _{Postoperative analgesia could} be provided by caudal injection perfectly. Thus, amount of analgesic drug, such as nonsteroidal anti-inflammatory agents,morphineandpethidine,couldbereduced.Inthis manner potential hepatorenal toxicity owing to analgesic agentcouldbeavoided.

Inconclusion,wepreferredinthepatientwithFAwithout thrombocytopenia,becauseofavoidingfromN2O,reducing amount of anesthetic, existing microcephaly, hypothy-roidismandelevatedliverenzymes,providingpostoperative analgesia,andreducingamountofanalgesicused postopera-tively.

Conflicts

of

interest

Theauthorsdeclarenoconflictsofinterest.

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