NEUROPEDIATRI

RIKI SUKIANDRA,MDNEUROLOGIST

Neurology Dept.Faculty of MedicineRiau University

Cerebral PalsyInsidensi: 2-3 / 1000 anakMerupakan diagnosa klinis: kelainan motorik,tonus, postur, ggn gerakMerupakan kelainan UMN, non progresifKelainan genetik atau didapat saat perkembangan otak

CP merupakan sindrom UMN krn ggn genetik atau ggn yg terjadi saat perkembangan otak

Cerebral Palsy dapat berbentukSpastik yg terkena : pusat motorikHemiparese / plegia (ka ki)Diparese / plegia tungkai > beratTetraparese / plegia lengan > beratDiskenetik/chorioatetosis:gerakan involunter, gangguan di basal gangliaAtaksik kerusakan di cerebellum4.Campurancampuran+hipertonik/ hipotonik

Cerebral Palsy Hemiplegia

Paling sering ditemukanEtiologi : postnatal (terutama infeksi, kelainan vaskuler)Ditemukan :kontraktur flexi sendi, pergelangan tangan, bahu, adduksi ibu jari & flexi pergelangan tangandapat disertai afasia

Cerebral Palsy Diparesis

Paling sering terjadi pada anak lahir prematur Perkembangan motorik extremitas bawah tergangguBilamana anak ditegakkan, ditemukan tanda guntingDuduk dengan posisi seperti tukang jahit Tailors Position, yaitu duduk dengan punggung melengkung jika berjalan, panggul dan lutut semi flexi dan ditemukan kontraktur lutut, panggul dan pergelangan kaki

Cerebral Palsy Tetraparese

Etiologi : Hipoksia BBLRPatologi :Terjadi kerusakan luas pada otakBentuk CP yang paling beratLengan lebih spastik dibandingkan kakiMental Retardation beratDisfungsi bulber : gangguan mengunyah dan menelanSkoliosis, kontraktur flexi panggul, lutut dan pergelangan kaki

Cerebral Palsy Disknetik/Choreo-atetoid

Etiologi : Kern icterus Asfiksia berat

Pada kernicterus: bilirubin toxic krn menghalangi konsumsi O2 oleh neuron, shg terjadi kematian jaringanPredileksi kerusakan :Basal ganglia otakCerebellum dan meningen

Gejala :Rigiditas extra pyramidalIntelegensi sering baikGerakan choreoatetoidPada masa anak jarang ditemukan kontraktur sendi, karena tonus lebih bersifat hipotonik

Cerebral Palsy AtaksikEtiologi :BBLR perdarahan periventrikulerTremor oleh karena disfungsi serebellumJalan : Broad base gaitCerebral Palsy tipe CampuranKlinis : beberapa bentuk kelainan motorik,tanpa adanya suatu bentuk yang menonjol.

Diagnosa Cerebral PalsyFaktor yang harus diperhatikan untuk mendiagnosa CP :Terdapat hambatan /keterlambatan tumbuh kembang /motorikGerakan yang janggal/tidak seimbangReflek primitif menetap (ATNR = Asimetric Tonic Neck Reflex; Reflex moro, dll)

Diagnosa Cerebral PalsyReflek patologis +Kegagalan mengembangkan refleks proteksi, misalnya refleks parasutRiwayat defisit motorik pada keluarga (herediter)Gangguan lain yang menyertai (gangguan fungsi bicara, penglihatan, kejang, dll)Untuk evaluasi pemeriksaan neurologi perlu pengetahuan tentang perkembangan anak

Kelainan Yang Menyertai CP

Kejang : 50% pada anak dengan Cerebral Palsy hemi/tetra pareseGangguan perkembangan mental30-50% pada CP tetra/diparesis beratGangguan bicara Oleh karena adanya :gangguan pendengaranafasiagangguan involuter otot-otot bicaraGangguan penglihatan dan pendengaran sentral oleh karena gangguan penginderaan dan persepsinya

Pengelolaan

Keluarga mutlak perlu dilibatkanFisioterapiUntuk perkembangan motorik (yg kasar) dan mencegah kontraktur sendi-sendi ototKontraktur intervensi ortopedikTerapi okupasi : melatih motorik halusTerapi bicara + latihan makan, minumKaca mata / koreksi strabismus mataMedikamentosa: anti spastisitas, terapi ggn extrapiramidal : THP

Pencegahan

Prenatal care yang adekuat (untuk mendeteksi dan menangani secara dini gangguan pada ibu hamil)Monitoring kehamilan dan persalinan (untuk mengetahui adanya fetal distress sedini mungkin)Pencegahan terhadap infeksi yang dianggap menggangu jalan lahirMenghilangkan/atasi faktor penyebab prematuritas

Prognosa

Sesuai dengan berat ringannya disfungsi yang terjadi.Faktor faktor yang berpengaruh thd prognosa :Type klinis CPLuas gangguan pada otakDerajat hambatan tumbuh kembang pada saat evaluasiReflex patologis yang adaDerajat defisit intelegensia, sensasi, emosionalKelainan yang menyertaiPerawatan / terapi yang didapat

Diagnosa BandingKelainan neuromusculer (type LMN)Kelainan degeneratif (progresif)Kelainan tulang dan sendiPenyakit gangguan gerakan involunterPenyakit myelopati (kelainan / degenerasi di medulla spinalis)

KesimpulanPenyakit CP ini harus dapat dideteksi sedini mungkin dan harus diketahui kelainan-kelainan yang menyertainyaPenanganan secara multidisiplin harus dilakukan sesegera mungkin supaya kualitas hidup menjadi lebih baikPerlu kerjasama dengan disiplin ilmu yang lain sehingga faktor penyebab dapat dicegah, dideteksi sedini mungkin dan ditangani dengan baik

WHO : suatu gangguan perkembangan mentalAmerican Association of Mental Deficiency : adalah kelainan yang menunjukkan suatu penurunan fungsi intelektual umum Pada masa anak kelainan dinamik Pada masa dewasa kelainan statisDefinisi

Sindroma KlinefelterKelainan kromosom 47, XXYGambaran klinik : selain RM, bentuk tubuh tinggi, undescensus testisSindroma TurnerKelainan kromosom sex 45, XOSindroma fragile XRM + makroselia

ad.3. Kelainan Struktur SSPContoh : mikrosefali

ad.4. Kelainan Struktur SSP dengan Gambaran Dismorfik MultipleLawrence Moon Biedl :MR + retinal pigmentasi, obesitas, polidaktiliIncontinensia pigmentasi syndromePada wanitaPigmentasi pahaHemi/tetraplegi / kejang10% mikrosefali dg atrofi pupil

Sotos syndromeMakrosomia, makrosefali

Rileys syndromeGangguan saraf otonom, inkoordinasi motorik, areflexia, disartria, kejangInherited Disorders Riley-Day syndrome (familial dysautonomia) is an autosomal recessive disorder of infants and children that occurs among Ashkenazi Jews. The defective gene, located on the long arm of chromosome 9, has not been identified. Decreased tearing, hyperhidrosis, reduced sensitivity to pain, areflexia, absent fungiform papillae on the tongue, and labile BP may be present.

Rileys syndromeEpisodic abdominal crises and fever are common. Increased sensitivity to intraocular methacholine and absent axon flare response to intradermal histamine injection are useful diagnostic markers. Normal resting plasma NE levels that do not increase on standing are consistent with an afferent lesion. Pathologic examination of nerves reveals a loss of small myelinated and unmyelinated nerve fibers.

Apert syndromeBentuk kepala panjang, orbita dangkal, sindaktili/ polidaktiliSyndrome (Genetic Locus) Apert (10q26) Major Cardiovascular Manifestations Ventricular septal defect Major Noncardiac Abnormalities Craniosynostosis, midfacial hypoplasia, syndactyly

Phakomatoses yang juga dikenal dengan sindrom neurokutan, mencakup lesi di kulit & susunan saraf & sering disertai kelainan di mata & visera

Penyakit Phacomatosis :Tuberous sklerosis (Epiloia, Penyakit Bourneville)Kelainan degeneratif neuroektodermal, diturunkan secara dominan otosomal, yang ditandai :Adenoma sebaseum ]RM]Vogt's triad Epilepsi]

Penyakit Sturge Weber (Sindrom Ensefalotrigeminal Vaskular)Hemangioma kutan (Port Winnestain) sisi yang sama (nevus vaskular berwarna merah anggur)Angiomatosis leptomeningeal pada sisi yang samaDitambah : Hemiplegi kontralateral Kejang 90% RM 30% Kalsifikasi intraserebral ipsilateral

Location of febrile seizure in International classification of epilepsies and epileptic syndromeLocalization related (focal, local, partial epilepsies and syndromes) Idiopathic (with age related onset)Symptomatic epilepsyCryptogenic

2. Generalized epilepsies syndromesIdiopathic (with age related onset)CryptogenicSymptomaticSpecific syndromes

3. Epilepsies and syndromes undetermined whether focal or generalizedWith both generalized and focal seizureswithout unequivocal generalized or focal features.

4. Special syndromesSituation-related seizures (Gelegenheitsanfalle)Febrile convulsionIsolated seizures or isolated status epilepticusSeizure occurring in an acute metabolic or toxic event due to factors such as alcohol, drugs, eclampsia, non-ketotic hyperglycemia

CONTROVERSIES ABOUT FEBRILE SEIZURE

- Definition Diagnostic evaluation Outcome Investigations Management Drug prophylaxis Type of care

DefinitionFebrile Seizures are the Seizures with fever occurring in children between 6 months to 6 years of age without evidence of intra cranial infection or defined cause[NIH-1980]Differentiate Atypical Febrile Seizure Seizures without fever Focal fit / Multiple typesProlonged postictal deficit Interictal EEG Pattern

Statistics

Prevalence 2-5% of all childrenAge wise incidence < 6 Months:4% < 3 Years:94% > 3 Years:6%Recurrence in rd. Multiple recurrence in 10%75% Recur in 1st year1st Fit in < 1 Year : 50% recur1st Fit in 1-3 Year : 20% recurMale > FemaleBlack > White

CLASSIFICATION1.Simple Febrile seizures- Tonic or Tonicclonic- Lasting:

Complex Febrile Seizure

- 15% of all Febrile fits - > 15 Minutes - Partial / Multiple types

Febrile status Epilepticus

- 25% of status epilepticus - Neurologically normal

80%25%15%

Pre and perinatal factors predisposeing febrile seizureChronic maternal ill-health, often associated with reduced fertilitySmoking and alcoholEarly, repeated, slight vaginal bleedingToxemiaMaternal therapeutic drug useMaternal seizureDelivery other than by the vertexRelative reduction of birth-weight for gestationNeonatal sepsisErrors of metabolism in the neonatal period

Factors noted commonly prior to febrile seizures

Upper and lower respiratory tract infections, otitis media, Soft neuro-logical signs

Delay in walking

Mental retardation

Larger or smaller than usual occipitofrontal head.

Illnesses associated with febrile seizureCommonest clinical diagnosis Upper respiratory tract infectionLess common clinical diagnosesOtitis mediaBronchopeumoniaPertussisGastroenteritisPyuriaMeaslesExanthem subitumScarlet fever

Factors associated with complex initial febrile seizureYoung ageNegative family historyAdverse perinatal eventsNeonatal seizures Prior neurologic dysfunctionAbnormal neurologic developmentInfection with malaria or HIV-6Short duration of fever prior to seizure Relatively low fever

CHILD WITH 1ST FIT IN FEVERHistory Associated URI / Other infectionsVaccinationType of fitTemperature at which fit occurredTime lag between Onset of fever & fitPast historyFamily history of fit & Febrile SeizureAssess sensoriumAssess for any focal neuro deficit Hemiplegia / Monoplegia Assess for evidence of meningel irritationGeneral ExaminationExanthematous Disease Chest infectionetc.

WHAT TO DO IN EMERGENCY

Maintain clear airwayRoll the child on to one side / prone with head lowered Paraldehyde 01ml/kg (or 1ml /Year of age) deep IMDiazepam 0.25 mg/kg I.V. Slowly in 2-3 MinutesMay be repeated after 30 MinutesRectal Diazepam (0.5 mg /kg)Sod. Valproate:- Single dose 400 600 mg.

ANTIPYRETIC MEASURESRemove clothing

Fanning

Tap water spongesParacetamol

Room temperature 19C

Parents frightened - Manage them

WHEN PATIENT SHOULD BE ADMITED

< 18 Months

Febrile status

Parental anxiety

Sick child

CONTROVERSY

Investigating a case of Febrile Seizure1st time : Yes2nd time / later: No

Managing Febrile Seizure in emergency:

Drug prophylaxis ?

INVESTIGATIONCBCBSLS. CalciumUrine R/ELP if IndicatedEEG Prolonged Fit Repeated fits A febrile fits Focal fit F.H. of fitCT/MRI If indicated

CSF STUDY IN FEBRILE SEIZURE

Suspicious Findings on physical examination Rash / petechie / Cyanosis

Neurologically abnormal Neck rigidity Prolonged focal deficit HMF recent abnormality

< 1 Year age

Seizures after 24 hrs. of onset of fever

Cerebrospinal fluid in febrile seizuresLactate raised in complex febrile seizuresy-Aminobutyric acid reduced with prolonged febrile seizure5-Hydroxyvaleric acid: transient reduction, a secondary phenomenonProstagladin E-2: raised secondary to the fever (not seizure)Purine metabolism bases unchangedFree amino acid findings equivocalArginine-vasopressin : no significant changeHistamine : expected rise not observed.

Factors known to influence recurrent febrile seizureIncreased riskAge less than 1 yearFamily history of febrile seizure in first degree relativeLow social classPersistent neurogical abnormalityComplex febrile seizure initiallyDecreased riskFever >40 CNo relevanceEEG findingsProven viral infection

DRUG PROPHYLAXIS- 1st Fit

NIH 1980 SUGGESTIONS(For drug prophylaxis )Long Seizure

2. Focal Seizure

3. Had > 2 Seizures in 24 hrs.

4. With abnormal neurological development 5. H/O. Non febrile Seizures in parents or siblings

6. Was very young

PHARMACO-THERAEPYProphylaxis: Phenytoin in effectivePhenobarbitone Poorly effective 4-5 mg/kg/day [Herranz et al 1984, Mamelle et al 1984, Wolf et al 1977]Sod. Valproate: Drug of choice (0.3 mg/kg/dose)

Intermittent:Diazepam oral / rectal (0.3 mg/kg/dose) Clobazam

RISK OF EPILEPSY IN LATER LIFE (REPORTS)

2-3 Times greater than other children

2-5% until 25 YRS age.

Risk is many fold- With family history- Complex Febrile Seizure - Pre-existing neuro development abnormality

RISK FACTORS(Nelson & Ellenberg Study 1978) ChangeYoung age (

6%22%49%Risk of future epilepsy in children with febrile seizures 2.5%NO RISK1 RISK2 RISK3 RISKFACTORSFACTORSFACTORSFACTORS

EEG to identify risk group (after the febrile period)

USEFUL IN - COMPLEX FEBRILE SEIZURE

DOUBTFULL CASES

Neuroimaging

NOT REQUIRED IN TYPICAL CASE

Aetiology of status epilepticus in children Febrile20 29Idiopathic16 39Chronic static CNS disorderRemote symptomatic14 23Acute symptomatic23 40CNS infectionCNS traumahypoxic ischaemic damagecerebrovascularmetabolic / electrolyte distrubanceintoxicationdrugs, e.g. theophylline derivatives,tricyclic antidepressants, insulinamphetaminestumoracute AED withdrawal Progressive encephalopathy2 - 6

First-line drugs for the treatment of Status epilepticus

DrugRouteDosage andAdverse effectAdministration

DiazepamIV0.2-0.3 mg/kgRespiratory depression sedationLorazepamIV0.05-0.1 mg/kgRespiratory depression sedationMidazolam IV/IM0.1-0.2 mg/ kgRespiratory depression sedationmax dose 5 mgPhynytoinIV20 mg/kg slow Cardiac effect if infused tooinfusion, no rapidly faster than 1 mg kg 1 min 1PhenobarbitalIV20-25 mg/kgCardio respiratory depressioninfused no faster if infused too rapidly sedationthan 100 mgmin 1

Drugs for the treatment of refractory status epilepticus

Drug Loading doseMaintenance

Midazoalam0.15-0.2 mg/kg1-2 g kg 1 increased every 15 min until control achieved 2-10 mg kg 1 h-1Thiopentone5-30 mg/kg

Phenobarbital10-20 mg/kg repeatedboluses every 30-60 minuntil control

Isoflurane0.5-3.0 per cent inhalation anesthetic

GeneticsPoorly under stood

? Autosomal dominant

? Polygenic inheritanc [Frantzen 1970]10% of parents had his- tory of febrile seizures

9% of children with feb-rile seizure had young-er siblings had at least one convulsion [Berg 1974]

Children with positive family history were more likely to have complex febrile seizures [Verity et al. 1985]

PARENTAL COUNSELINGInitial panicAnxiety about childs future

Discussion at several sessionsExplanations about future risk of fits Explanations about risk of fit in siblings Explanations about childs future development and studiesExplanations about what to do if child gets fever / fits in future

CONCLUSIONCHILD WITH FEBRILE SEIZURESSound antenatal, Intranatal historyNeurologically normal DQ normal1st time fitRule out CNS infection as cause of fitRule out metabolic problem in feverTests to find Seizure disorder Manage if in emergencyDecide about drug or no drug policy

References Berg at, Shinnar s, Hauser WA, et al. Predictors of recurrent febrile seizures: a metaanalytic review. Pediatrics, 1990.

2. Hauser WA, Annegers JF, Anderson VE, et al. The risk of seizure disorders among relatives of children with febrile convulsions. Neurology 1985.

3. Van den Berg BJ. Studies on convulsive disorders in young children. IV. Incidence of convulsions among siblings. Dev Med Child Neurol 1974.

4. Frantzen E., Lennox B., Nygaard A. A genetic study of febrile convulsions. Neurology 1970.

5. Falconer. M.A. Genetic and related etiological factors in temporal lobe epilepsy: a review. Epilepsia 1971.