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  • Problem Case Conference
    반복되는 역류 및 그렁거림을 주소로 내원한 10개월 남아
    2010.7.2
    Moderator : R4. 박미란
    Presenter : R1. 강지은
  • Brief History
    Male,GA 40wks, 3190gm, NFS delivery at local hospital , without PNP
    2009년 8월 (생후 1개월) : Pneumonia , 소화 아동병원에 5일간 입원
    2009년 9월부터 그렁거림 지속됨: 순천향병원에서 경과 관찰.
    2010년 2월 (생후 7개월)부터 수유 후코, 입으로 역류되는 양상 관찰되고 다시 pneumonia 발생하여 세브란스 병원 입원. 2010년 3월에 GER 에 대한 검사 시행 후 L-tube feeding 시작하고 PPI 및 motilium복용 시작
    Esophagography (2010.3.12) : Definite GE reflux 혹은 aspiration 관찰되지 않음.
    VFSS (2010.3.18) : liquid 에서 delayed swallowing reflex 로 인한 spontaneous posterior falling, incomplete velopharyngeal port closure,liquid 에서 pre-swallowing, post swallowing aspiration 관찰됨.
  • Brief History – 외부병원 검사 결과
    2010/3/22 EGD
    vocal cord : unusual swelling   esophagus 내부는 ring shaped folding이 일부 관찰되며 eosinophillicesophagitis와 유사한 소견 관찰됨.     >> biopsy 상에는 chronic nonspecific inflammation without eosinophil    >> correlated with GERD
    2010/3/23 24 hr PH monitoring     acid exposure    upright 20.4%, recumbant 12.0%, Total 14.3%    Bolus exposure    (acid percent time ) upright 2.2%, recumbant 4.3%, total 3.8%    (all reflux percent time ) upright 4.1%, recumbant 5.2%, total 4.9%
  • Brief History – 외부병원 검사 결과
    2010/4/2 EGD
    vocal cord swelling was much improved compared with prev. EGD     ring shaped morphology of esophagus disappear
    Allergy test >>
    egg white, cow milk, peanut, soybean, pork, egg yolk : all negative     total IgE ; 13.4 kIU/L (normal)
    IgG/A/M : 609/20/156 (normal)
    2010/2 Sputum culture : S. pneumonia
    Respiratory virus : (-)
  • 1st Admission (2010.4/12~4.16)
    2010년 4월 (생후 9개월) 본원 호흡기 분과 및 소화기분과 외래 방문
    2010년 4월 12일 bloody sputum (바닥에 피가 약간 묻어 있었음) 의심되어 ER 통해 1st admission
    방광암
    <Family History>
  • 1st Admission (2010.4/12~4.16)
    Development (2010년 4월 입원 당시) : 목가누기, 뒤집기 및 배밀이 가능 (6-7개월 정도의 발달단계)
    P/E
    Wt : 8.8kg (25-50P) Ht : 73.1cm (50P),
    V/S : BP 118/86mmHg, HR 146회/min, RR 40회/min, BT 37.1’C
    Chest : coarse breathing sound with severe ronchi, w/o rale
    N/E : 이상소견 없음.
    Initial lab
    특이소견 없음
  • 2010년 2월 28일
    2010년 3월 3일
  • 2010년 3월 14일
    2010년 3월 21일
  • 2010년 4월 13일
    (본원 입원당시)
  • Initial Problem list
    Recurrent regurgitation (생후 7개월부터 시작됨)
    Recurrent pneumonia (생후 1개월, 7개월)
    Grunting sound (생후 2개월)
    r/o Hemoptysis
    Mild developmental delay
  • Initial Ass & Plan
    Primary lung disease
    r/o bronchiectasis
    r/o Hemoptysis
    Recurrent regurgitation
    Recurrent pneumonia (2009/8, 2010/2)
    Grunting sound
    Mild developmental delay
    r/o Laryngopharyngeal
    reflux , r/o GER
    3. r/o Cricopharyngeal
    incoordination
    Plan
    Chest CT 시행.
    L-tube feeding 유지하면서 PPI 치료 후 경과 관찰
    VFSS f/u
    Metabolic w/u 등 고려
  • Laryngopharyngeal Reflux vsGastroesophageal Reflux
    Higher among infants (20-40%) than among children or adults (7-20%)
    P.Stavroulaki , International Journal of Pediatric Otorhinolaryngology 2006
  • Laryngopharyngeal Reflux
    Infant >> Regurgitation/ vomiting, dysphagia, anorexia, growth failure, abnormal crying, sleep disorder, irritability or torticollis, upper airway problem (recurrent croup, laryngomalacia, subglotticstenosis), chronic respiratory disease
    Children >>
    Laryngotracheal complains – chronic cough , dyspnea,
    Pharyngeal complains : persistent sore throat, globus sensation, referred otalgia, dental erosion
    Rhinologic complains : nasal obstruction, rhinorrhea, headache
    Chronic respiratory disease
    Gastrointestinal symptoms: regurgitation/vomiting, nausea, chest or abdominal pain, heartburn
    P.Stavroulaki , International Journal of Pediatric Otorhinolaryngology 2006
  • 1st Admission (2010.4/12~4.16)
    HD#1(4/12)
    Chest CT >> (사진 첨부하기)
    No evidence of bronchial artery hypertrophy.   No evidence of bronchiectasis.    No definite evidence of active lung lesion.   Multifocal peripheral atelectasis of both lungs.    Mosaic pattern in both lower lung.    Limited evaluation of the esophagus due to collapsed state.
    Metabolic w/u >>
    MS/MS : negative , Lactic acid : 1.0 , Pyruvate 0.6, ammonia 44
    TFT – free T4 1.06, T3 113, TSH 1.01 , Amino acid (s) : normal Carnitine (s) : normal , Organic acid (u) : normal
  • 1st Admission (2010.4/12~4.16)
    HD#4(4/15)
    ENT exam >> mild laryngomalacia
    Neurologic exam >>
    DTR – (+) , both symmetric
    Frog leg position 간헐적으로 관찰됨
    VFSS >>
    ORAL PHASE
    0) sucking : G
    1) Tongue movement, bolus formation and mastication 등은 비교적 적절함.
    2) Premature bolus loss는 관찰되지 않음.
    PHARYNGEAL PHASE
    1) Laryngeal elevation 및 epiglottic closure가 비교적 적절함.
    2) Small fluid에서 aspiration, Yoplait 에서 penetration 관찰됨.
    3) Yoplait 에서 vallecular residue Gr1, pyriform sinus residue Gr1 으로 남음
    4) Pharyngeal wall coating은 관찰되지 않음.
    5) Pharyngeal triggering은 비교적 적절함.
    ESOPHAGEAL PHASE
    1) UES relaxation은 비교적 적절함.
    2) Pharyngeal reflux는 관찰되지 않음.
  • 1st Admission (2010.4/12~4.16)
    Diagnosis & Plan
    Recurrent regurgitation
    r/o LPR >> GER : PPI 복용하며 경과 관찰 , L-tube feeding 유지
    Aspiration tendency d/t cricopharyngealincoordination, LPR
    Bronchiolitisobliterans
    Budesonide nebulizer start.
    Mild developmental delay
    Hypotonia
    Metabolic w/u 상 이상 없음.
    EMG/NCS 외래에서 시행하기로 함.
  • 2nd Admission (2010.5.12)
    2010/5/5 퇴원 후 L-tube insertion 부위의 swelling 으로 보호자 제거 후 oral feeding . 구토 지속되어 ER 내원하여 L-tube insertion
    2010/5/9, 2010/5/12 : 구토 지속되고 dyspnea, lip cyanosis 보여 ER 통해 2nd admission
    V/S BP : 131/98mmHg-HR : 163회/min- RR: 64회/min –BT : 38 'C
    HC : 42.5cm (25-50p) , BW : 8.4kg (<- 8.8kg (2010.4))
  • 2010년 5월 11일
  • HD#3 (5/14)
    Both lung field 의 rale지속적으로 청진됨.
    EMG /NCS 시행 : 이상 없음
    VFSS f/u : 4/16 에 비해 악화됨
    PHARYNGEAL PHASE
    1) Laryngeal elevation이 감소되어 있으며 epiglottic closure가 다소 불완전함
    2) Small fluid에서 aspiration관찰되며 YP에서 penetration관찰됨
    3) Vallecular residue: SF/YP - Gr 1/1
    Pyriform sinus residue: SF/YP - Gr 1/2
    4) Pharyngeal wall coating이 관찰됨.
    5) Pharyngeal triggering이 지연되어 있음.
    ESOPHAGEAL PHASE
    1) UES relaxation은 비교적 적절함.
    2) Pharyngeal reflux는 관찰되지 않음.
    3) Esophagus까지 관찰하였으며, 이상소견 관찰되지 않음
    HD#8 (5/19)
  • 왼쪽 눈꺼풀의 ptosis, 왼쪽 팔의 근력 약화,frog leg position , EMG/NCS 상 이상소견 보이지 않고 DTR (+) , Cricopharyngealincoordination이 악화됨.
    • r/o central hypotonia
    • Brain MRI 시행함.
    Lobulating contour well enhancing cystic and solid mass involving the medulla oblongata extending left lateral recess.   -Suspicious obstructing fourth ventiricle.   -accompanying hydrocephalus.   DDx. 1. ATRT    2. Unusual ependymoma    3. medulloblastoma, less likely.
    • 5/20 EVD insertion
    신경외과로 전과됨. 5/25 craniotomy and tumor removal
    HD#10 (5/21)
  • Brain MRI
  • Hospital course
    HD#18 (5/28) – POD #3
    Extubation -> 이후 dyspnea악화되어 6/1 reintubation
    PED transferred. (6/7)
    Hypothermia , BP 감소 및 leukemoid reaction : r/o septic shock – Tazo+AMK start
    Chemotx. 시행 예정이었으나 cyanosis 및 desaturation반복되고 CO2 retention -> lung care 위해 서5병동으로 전동. 현재 antibiotics 유지하며 nebulizer 시행중.
    UGIS : 향후 feeding 진행 위해 시행 예정이었으나 swallowing 되지 않아 시행하지 못함.
    HD#31 (6/9)
    HD#34 (6/12)
  • Hospital course
    Grunting sound
    Regurgitation
    Pneumonia
    왼쪽 눈꺼풀의 ptosis
    Pneumonia
    Pneumonia
    생후 1개월
    (2009/8)
    10개월
    (2010.5)
    9개월
    (2010.4)
    8개월
    (2010.3)
    2개월
    (2009/9)
    7개월 (2010.2)
    VFSS : aspiration
    Laryngeal elevation 감소
    Chest CT : bronchiolitisobliterans
    VFSS : aspiration
    Budesonide nebulizer
    Brain MRI : brainstem mass
    L-tube feeding, PPI 사용
  • Final Assessment & Plan
    1. Atypical teratoid/rhabdoid tumor in brain stem
    Poor swallowing : PEG insertion 등 시행 후 chemotherapy 진행중.
    2. Recurrent pneumonia -> Bronchiolitisobliterans
    Budesonide nebulizer 유지 중임
    Infection control 및 lung care 진행중
  • ?
    ?
  • Recurrent pneumonia in children
    Recurrent pneumonia : 2 episodes of pneumonia in a single year, or 3 episodes over any time period. The chest radiograph should show resolution of radiologic changes between episodes.
    Results from deficiencies in the local pulmonary or systemic host defences or from underlying disorders that modify the lung defences
    Congenital malformation of upper of lower respiratory tract and cardiovascular system
    Recurrent aspiration
    Defects in the clearance of airway secretions- cystic fibrosis and ciliary abnormalities
    Disorders of systemic and local immunities.
  • Recurrent pneumonia in children - study
    2952 Patients admitted to The Hospital for Sick Children, Toronto, with pneumonia during 10 years
    Recurrent pneumonia : 238 patients
    Mean age : 3.7 years (2.5months ~15.6years)
    Underlying illness >>
    Aspiration syndrome (47.9%) due to oropharyngealincoordination
    Immune disorder(14.3%)
    Congenital heart disease (9.2%)
    Bronchial asthma (8.0%)
    Anomalies of the respiratory system (7.6%)
    Gastroesophageal reflux (5.4%)
    Unknown (7.6%)
    Abdullah F. ect .Arch PediatrAdolesc Med. 2000;154:190-194
  • Recurrent pneumonia in children
    Timing of Underlying illness Diagnosis Relative to the Number of Pneumonia Episodes
    Abdullah F. ect .Arch PediatrAdolesc Med. 2000;154:190-194
  • Aspiration disorder >>
    Mean age : 6.3years
    Cerebral palsy (>50%)
    Recurrent pneumonia prior to diagnosis of underlying aspiration disorder : 4 case
    Nemaline rod myopathy (EMG 상 진단됨)
    Brainstem tumor (recurrent bilateral pneumonia from silent aspiration without neurological sign)
    Recurrent pneumonia in children
    Abdullah F. ect .Arch PediatrAdolesc Med. 2000;154:190-194
  • Aspiration syndrome
    All conditions in which foreign substances are inhaled into the lungs
    Aspiration syndrome
    Oral or gastric contents associated with gastroesophageal reflux (GER)
    Swallowing dysfunction
    Cricopharyngealincoordination : transient pharyngeal muscle dysfunction , involves cricopharyngeal muscle spasm or achalasia of the superior esophageal sphincter. Who have a normal suck reflex but have incoordination during swallowing -> possibly associated with cerebral palsy
    Neurological disorders
    Structural abnormalities.
  • Dysphagia in children
    Act of swallowing
    Oral phase
    chew solid food to semisolid consistency , liquid to the back of the oral cavity
    Cranial nerve V,(trigeminal) VII(facial), XII(hypoglossal)
    Coordination activity : jaw, facial, orobucal, lingual muscle
    Pharyngeal phase
    Soft palate rise : closes nasal cavity
    tongue pushes food into the laryngopharynx
    Laynx moves up and forward , closing glottis
    Cranial nerve V, VII, X, XI, XII
    Esophageal phase
    Food pushed down toward the stomach, by esophageal motility
    Disturbance in act of swallowing : Dysphagia
  • Dysphagia in children
    Most commonly presents as feeding or respiratory difficulty
    Newborns and infants
    Sucking difficulty / or Sucking without swallowing
    Pooling of food in the mouth, slow sucking , nasal reflux, failure to weight gain , coughing during feeding , apnea, noisy breathing during feeding
    Aspiration : choking, coughing , tachypnea, cyanosis
    “Silent” aspiration
    - Cough reflex is absent in 75% of premature infant and 50% of newborn
    - Absent in infants who have sufferd a neurologic insult
  • Dysphagia in children
    Repeated episode of respiratory infection and experience chronic bronchial congestion
    Examination
    Finding a cause of dysphagia
    Oropharyngeal malformation 여부 : small jaw, large tongue like Pierre –Robin syndrome or Beckwith syndorme , or cleft lip and palate, mandibularankylosis , choanalatresia -> sucking difficulty
    Feeding 시 choking 과 stridor를 보일 경우 : TEF 의심
    Thorough Neurologic Examination !! (cranial nerve V, VII, IX, X, XI,XII)
    - Jaw jerk or Jaw clonus : suprabulbar palsy
    • Muscle tone , strength, evaluation of stretch reflex and sensation
    • Central hypotonia도 심한 경우에는 uncoordinate suck, swallow 와 연관 있을 수 있음.
    • Congenital myopathy, dystrophy 가 종종 dysphagia와 연관되어 있음.
  • Dysphagia in children
    Video analysis of sucking and swallowing
    Chromosomal karyotyping (Praderwilli syndrome – specific DNA test)
    Brain MRI : significant upper motor neuron finding 을 보이는 경우 필요함!! (CNS injury 나 다양한 malformation , 일부 neuromuscular dystrophy를 감별할 수 있음)
    EMG/NCS
  • Selected neurologic cause of Dysphagia
  • Question
    Recurrent pneumonia 혹은 aspiration syndrome 을 보이는 경우 CNS Imaging 을 반드시 시행해야 하는가?
  • Brain tumors in children under 1 years
    Intracranial neoplasm in neonates and infants
    Diagnostic & Therapeutic problem
    Lack of specificity in the symptoms
    The ability of the immature brain and skull to adapt to increased intracranial pressure -> Diagnostic Delay!!
    Surgical resection of the tumor is the most effective therapeutic modality due to limited roles of radiation and chemotherapy
    High operative mortality
  • Brain tumors in children under 1 years – SNUCH study
    Department of Neurosurgery, Seoul National University Hospital
    During 20 years (1977-1996) , 21 children
    Mean age : 5.8 months
    S.K. Chung et al, J Korean Med Sci 1998;13: 65-70
  • Brain tumors in children under 1 years – SNUCH study
    IICP sign : 11 patients (large head, vomiting, irritability)
    Head circumference : 4 patients 에서 90p 미만임. 이중 1명은 tumor size 가 4-5cm 임에도 3-10P.
    Congenital tumor : 2 case (diagnosed with fetal US)
    Prognosis : depend on pathological diagnosis, extent of surgical removal , general condition (allows chemotherapy) and patients’ permission to treat
  • Brain tumors in children under 1 years – study
    S.K. Chung et al, J Korean Med Sci 1998;13: 65-70
  • Neurologic evaluation of infant
    Careful history , examination and frequently requiring serial examinations !!!!!
  • Neurologic evaluation of infant
    Supraspinal conditions : brain, brainstem , cervical spinal junction - Central hypotonia
    Basal ganglia, red nucleus damage : extremity 의 passive movement 에 대한 저항의 증가
    Cerebellum damage : axial, appendicularhypotonia
    Segmental conditons: anterior horn cell , peripheral nerve, neuromuscular junction, muscle - Motor unit hypotonia
    Afferent & efferent limb reflex 가 저하됨.
  • (A) pull to sit, (B) scarf sign, (C) shoulder suspension, and (D) ventral suspension.
  • Central hypotoniavs Peripheral hypotonia
    Amirsalari S. et al., Pak J Med Sci 2008;24(5):744-47
  • Central hypotoniavs Peripheral hypotonia
    Amirsalari S. et al., Pak J Med Sci 2008;24(5):744-47
  • AT/RT with recurrent pneumonia– case
    1st admission due to pneumonia at age 2 months -> two subsequent admission at age 4 months
    Chest x-ray during 3 admission showed rt. upper lobe pneumonia .
    w/u for recurrent pneumonia
    Immunoglobulin level : normal
    Culture, pertussis w/u , enterovirus, chlamydia – all (-)
    Hypoallergic diet – unsuccessful
    Barium swallowing study : nasopharyngeal reflux, mild GER and aspiration
    Diala et al. Golisano Children’s Hospital. Pediatric annals 35:9 ,2006
  • AT/RT with recurrent pneumonia– case
    During 3rd admission , left side upper and lower extremity weakness and hypotonia , left head tilt, rt. tougue deviation , left eye ptosis detected in P/E
    -> brain MRI : trilobed cystic mass arising within the left foramen of Luschka
    -> Excisional biopsy : atypical rhabdoid-teratoid tumor
    Diala et al. Golisano Children’s Hospital. Pediatric annals 35:9 ,2006
  • Brain tumor with aspiration pneumonia- case
    C/C : 5year old girl, choking and breathless/ short generalized convulsion
    Past history : Noisy, irregular breathing at night beginning at age 18 months –diagnosed as mild asthma
    On admission , she was postictal and cyanotic, with costal retractions and crackles heard at both lung bases
    Dx : hypoxic convulsion associated with aspiration pneumonia
    Oades et al. Hillingdon hospital, AJDC vol 146(2), 1992
  • Brain tumor with aspiration pneumonia- case
    barium esophagogram
    Next 6 weeks, dizziness, unsteady on feet started . Developed apnea, pneumonia
    N/E : truncal ataxia/ fasciculating tongue/ poor gag reflex
    Brain MRI was performed. -> Gr 2 astrocytoma was confirmed by biopsy
    Oades et al. Hillingdon hospital, AJDC vol 146(2), 1992
  • Brain tumor with chronic intermittent stridor – case
    C/C : Persistent noisy breathing (2months ago)
    30 months old previously hearlthy girl
    P/I : Upper respiratory infection with rhinorrhea, cough, noisy breathing , wheezing 2 months earlier. All symptoms had resolved except abnormal breathing
    P/E : unremarkable
    Examination:
    Neck lateral x-ray : subglottic narrowing
    Bronchoscopy : collapsing, inflamed, edematous arytenoid/ paradoxical movement of vocal cord on inspiration
    Dx : Layngomalacia with paradoxical movement of vocal cord.
    Tx : PPI (for suspected GER)
    A Brain Tumor Presenting as Chronic Intermittent Stridor- Erin et al.
    Oregon health and Sciences university 2008,
  • Brain tumor with chronic intermittent stridor – case
    6 weeks later : dyspnea on exertion – oxygen supplementation , corticosteroid & epinephrine tx.
    MRI scan (evaluate for possible Arnold – Chiari malformation)
    Posterior displacement of the medulla by a 0.8x 1.6x 2.7cm mass
    Final Dx : anaplasticastrocytoma with features of a plomorphicxanthoastrocytoma
    A Brain Tumor Presenting as Chronic Intermittent Stridor- Erin et al.
    Oregon health and Sciences university 2008,
  • Brain tumor presenting as GER
    Case 1.
    A boy, at age of 8 months started to vomit
    Chest , skull x-ray , Barium meal follow thorough examination, jejunal biopsy, metabolic screening, abdomen CT -> 이상 없음
    Vomiting continud to 11months -> wt 5.7kg (<3p) , Ht 72cm(10p), head circumference 44cm (3p)
    Barium meal examination : GER , hiatal hernia -> Nissen’sfundoplication
    After operation, stridor and sign of pseudobulbar palsy
    Brain scan : dilatation of ventricle, tumor mass surrounding fourth ventricle -> biopsy 상 poorly differentiated glioma
    Brain stem glioma presenting as gastro-oesophageal reflux,
    Mahony et al. Archives of Disease in Childhood, 1987, 62
  • BronchiolitisObliterans in children
    Bronchiolitisobliterans : histologically defined by the presence of granulation tissue plugs within the lamina of small airways and/or complete destruction of small airways leaving a scar
    Chronic obstructive lung disease insult to the low respiratory tract , result in narrowing and/or complete obliteration of the small airways.
    HRCT of children with respiratory disease has enhanced the ability of clinicians to diagnose BO noninvasively
    Etiology : drug, exposures to toxic fumes, allergy reaction, collagen vascular disease, organ transplantation, or infection
    In children ; following severe infection is m/c (usually adenovirus)
    In adults : occupational inhalation injury, hypersensitivity pneumonia, autoimmune disorder
  • BronchiolitisObliterans in children
    Etiology of bronchiolitisobliterans
  • BronchiolitisObliterans in children
    Diagnosis of bronchiolitisobliterans
    Combination of history, physical exam . Infectious disease evaluation, imaging study, PFT , lung biopsy (occasionally)
    Viral culture (especially adenovirus ) , Mycoplasma culture/PCR
    Imaging : 40% of the patients had patchy consolidation and focal atelectasis on initial imaging ( in contrast to the usually unremarkable radiographs of patients with classical viral bronchiolitis)
    HRCT : mosaic perfusion, vascular attenuation, central bronchiectasis (29 of 30 children with bronchiolitisobliteranse– Kim et al . Chest 2001)
  • HRCT – bronchiolitisobliterans
  • BronchiolitisObliterans in children
    Lung biopsy : gold standard for diagnosis
    But because heterogenous distribution of airway involvement, open lung biopsies nondiagnostic in up to 1/3 of patients.
    Treatment
    Azithromycin
    Systemic corticosteroids
    Frequently used.
    Corticosteroid would not be expected to favorably impact the largely fibrotic component of the disease.
    Should be given early while disease process is in the developing phase before airway fibrosis is complete
    Pulse tx : IV methyl PD 30mg /kg over 1h daily for 3 days, repeated monthly, for 3-6 months – fewer side effect compared with oral corticosteroids.
    IV immunoglobulin (1-2g/kg) : monthly
  • Atypical teratoid/rhabdoid tumor
    Highly malignant, CNS tumor occurs less than 2 years of age
    1ST Described in 1987 by Rorke et al. – PNET or choroid plexus carcinoma prior to its recognition.
    15% of children less than 36 months with malignant brain tumors have AT/RT (Pediatric Oncology Group and Pediatric Brain Tumor Consortium study )
    Histologically resembles Rhabdoid tumor of the kidney – accurate diagnosis is difficult.
    Frequently located in the posterior fossa, but also be located in supratentorial or multifocal compartment.
  • AT/RT clinical and radiographic feature
    Signs and symptom : reflect location of the tumor
    Young patients with posterior fossa tumors : hydrocephalus , early morning headache, vomiting, lethargy, regression of motor skills
    Because of highly malignant tumor, typically have a fairly short history of progressive symptoms measured in days to weeks (unusual for symptoms to present for more than a few months)
    No way to distinguish AT/RT from other malignant brain tumor based on clinical history
    Imaging : nonspecific
    Posterior fossa : invade cerebellarpontine angle, may have area of necrosis
    Supratentorial : large, invasive, necrotic components
  • Atypical teratoid/rhabdoid tumor- Pathology
    AT/RT contains sheets of rhabdoid cells against a background of primitive neuroectodermal cells, mesenchymal cells, or epithelial cells . Some tumors are composed almost entirely of rhabdoid cell (round nucleus with prominent nucleolus and abundant cytoplasm )
  • Atypical teratoid/rhabdoid tumor- Pathology
    Immunohistochemistry :
    Rhabdoid cells : vimentin (+) , smoth muscle actin (+) , epithelial membrane antigen (+)
    Primitive neuroectodermal cells: NFP (+) GFAP(+)
    Molecular cytogenetic screening :
    Abnormal tumor suppressor gene , INI-1 (especially rhabdoid tumor, 최근 immunohistochemical staining 법이 개발됨. )
    -> INI-1 mutation (stain 되지 않음) + PNET w/o clear rhabdoid component : AT/RT 로 확진하기에 충분함!!
  • Atypical teratoid/rhabdoid tumor- Treatment
    Surgery
    Chmotherapy : post surgical adjuvant therapy
    Combination of cyclophosphamide, cisplatin, etoposide, vincristine, carboplatin, ifosfamide
    Of the 33 patients with AT/RT – 69% progressed by 12 -24 weeks on therapy, 83% progressed by 12 months. Median survival was 193 days)
    Radiation therapy
  • ATRT- associated lung problm ?
    Metastasis
    High incidence of leptomeningeal dissemination (59% of them at relapse) , but systemic metastasis to other extraneural sites is extremely rare in children- 0.98% (ali et al. Journal of Neuro-Oncology ,2006)
    • One report of a patient with atypical teratoidrhabdoid tumor disseminating via a ventriculoperitoneal shunt (Korones et al. Med Pediatr Oncol,1999)
    • 6 year old AT/RT patient without VP shunt showed lung metastasis after 15 months after diagnosis (Elif et al. Journal of Neuro-Oncology ,2001).
    • Since craniotomy may cause tumoral implantation into the incised cutaneous tissue and migration of cells into the veins
    • In central nervous system tumors, metastases may occur soon after initiation of therapy or may be detected several years after diagnosis (mean time : 18 months (3-60months))