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  1. 1. Moderator : R4. 박미란 Presenter : R1. 강지은 Problem Case Conference 2010.7.2 반복되는 역류 및 그렁거림을 주소로 내원한 10개월 남아
  2. 2. 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 후 코, 입으로 역류되는 양상 관찰되 고 다시 pneumonia 발생하여 세브란스 병원 입원. 2010년 3월에 GER 에 대한 검사 시행 후 L-tube feeding 시작하고 PPI 및 motilium 복용 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.
  3. 3.  2010/3/22 EGD vocal cord : unusual swelling esophagus 내부는 ring shaped folding이 일부 관찰되며 eosinophillic esophagitis 와 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
  4. 4.  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 : (-) Brief History – 외부병원 검사 결과
  5. 5.  2010년 4월 (생후 9개월) 본원 호흡기 분과 및 소화기분과 외래 방문  2010년 4월 12일 bloody sputum (바닥에 피가 약간 묻어 있었음) 의심 되어 ER 통해 1st admission 방광암 <Family History> 1st Admission (2010.4/12~4.16)
  6. 6.  Development (2010년 4월 입원 당시) : 목가누기 , 뒤집기 및 배밀이 가 능 (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 1st Admission (2010.4/12~4.16)
  7. 7. 2010년 2월 28일 2010년 3월 3일
  8. 8. 2010년 3월 14일 2010년 3월 21일
  9. 9. 2010년 4월 13일 (본원 입원당시)
  10. 10. Initial Problem list  Recurrent regurgitation (생후 7개월부터 시작됨)  Recurrent pneumonia (생후 1개월, 7개월)  Grunting sound (생후 2개월)  r/o Hemoptysis  Mild developmental delay
  11. 11. Initial Ass & Plan  r/o Hemoptysis  Recurrent regurgitation  Recurrent pneumonia (2009/8, 2010/2)  Grunting sound  Mild developmental delay 1. Primary lung disease r/o bronchiectasis Plan 1. Chest CT 시행. 2. L-tube feeding 유지하면서 PPI 치료 후 경과 관찰 3. VFSS f/u 4. Metabolic w/u 등 고려 2. r/o Laryngopharyngeal reflux , r/o GER 3. r/o Cricopharyngeal incoordination
  12. 12. Laryngopharyngeal Reflux vs Gastroesophageal Reflux P.Stavroulaki , International Journal of Pediatric Otorhinolaryngology 2006 Higher among infants (20-40%) than among children or adults (7-20%)
  13. 13. Laryngopharyngeal Reflux P.Stavroulaki , International Journal of Pediatric Otorhinolaryngology 2006  Infant >> Regurgitation/ vomiting, dysphagia, anorexia, growth failure, abnormal crying, sleep disorder, irritability or torticollis, upper airway problem (recurrent croup, laryngomalacia, subglottic stenosis), 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
  14. 14. 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)
  15. 15. 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)
  16. 16. Diagnosis & Plan  Recurrent regurgitation  r/o LPR >> GER : PPI 복용하며 경과 관찰 , L-tube feeding 유지  Aspiration tendency d/t cricopharyngeal incoordination, LPR  Bronchiolitis obliterans  Budesonide nebulizer start.  Mild developmental delay  Hypotonia  Metabolic w/u 상 이상 없음.  EMG/NCS 외래에서 시행하기로 함. 1st Admission (2010.4/12~4.16)
  17. 17. 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))
  18. 18. 2010년 5월 11일
  19. 19. HD#3 (5/14)  Both lung field 의 rale 지속적으로 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)
  20. 20.  왼쪽 눈꺼풀의 ptosis, 왼쪽 팔의 근력 약화 , frog leg position , EMG/NCS 상 이상소견 보이지 않고 DTR (+) , Cricopharyngeal incoordination 이 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)
  21. 21. Brain MRI
  22. 22. HD#18 (5/28) – POD #3  Extubation -> 이후 dyspnea 악화되어 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 desaturation 반복되 고 CO2 retention -> lung care 위해 서5병동으로 전동. 현재 antibiotics 유지하며 nebulizer 시행중.  UGIS : 향후 feeding 진행 위해 시행 예정이었으나 swallowing 되지 않아 시행하지 못함. Hospital course HD#31 (6/9) HD#34 (6/12)
  23. 23. Hospital course 생후 1개월 (2009/8) 10개월 (2010.5) 9개월 (2010.4) 8개월 (2010.3) 2개월 (2009/9) 7개월 (2010.2) Pneumonia VFSS : aspiration Pneumonia 왼쪽 눈꺼풀의 ptosisPneumonia Budesonide nebulizer Grunting sound VFSS : aspiration Laryngeal elevation 감소 Chest CT : bronchiolitis obliterans L-tube feeding, PPI 사용 Brain MRI : brainstem mass Regurgitation
  24. 24. 1. Atypical teratoid/rhabdoid tumor in brain stem  Poor swallowing : PEG insertion 등 시행 후 chemotherapy 진행중. 2. Recurrent pneumonia → Bronchiolitis obliterans  Budesonide nebulizer 유지 중임  Infection control 및 lung care 진행중 Final Assessment & Plan
  25. 25. AT/RT Dysphagia, GER Central hypotonia Associated lung problem Recurrent pneumonia Bronchiolitis obliterans ? ?
  26. 26. 증상별 Review Case BO & AT/RT
  27. 27. 증상별 Review Case BO & AT/RT
  28. 28. 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 1. Congenital malformation of upper of lower respiratory tract and cardiovascular system 2. Recurrent aspiration 3. Defects in the clearance of airway secretions- cystic fibrosis and ciliary abnormalities 4. Disorders of systemic and local immunities.
  29. 29. 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 oropharyngeal incoordination  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 Pediatr Adolesc Med. 2000;154:190-194
  30. 30. Recurrent pneumonia in children Timing of Underlying illness Diagnosis Relative to the Number of Pneumonia Episodes Abdullah F. ect .Arch Pediatr Adolesc Med. 2000;154:190-194
  31. 31.  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 Pediatr Adolesc Med. 2000;154:190-194
  32. 32. 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  Cricopharyngeal incoordination : 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.
  33. 33. 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
  34. 34.  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
  35. 35.  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, mandibular ankylosis , choanal atresia -> sucking difficulty  Feeding 시 choking 과 stridor 를 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 hypotonia 도 심한 경우에는 uncoordinate suck, swallow 와 연관 있을 수 있음. - Congenital myopathy, dystrophy 가 종종 dysphagia 와 연관되어 있음. Dysphagia in children
  36. 36.  Video analysis of sucking and swallowing  Chromosomal karyotyping (Prader willi syndrome – specific DNA test)  Brain MRI : significant upper motor neuron finding 을 보이는 경우 필요함!! (CNS injury 나 다양한 malformation , 일부 neuromuscular dystrophy를 감 별할 수 있음)  EMG/NCS Dysphagia in children
  37. 37. Selected neurologic cause of Dysphagia
  38. 38. Question  Recurrent pneumonia 혹은 aspiration syndrome 을 보이는 경우 CNS Imaging 을 반드시 시행해야 하는가?
  39. 39. Brain tumors in children under 1 years  Intracranial neoplasm in neonates and infants  Diagnostic & Therapeutic problem 1. Lack of specificity in the symptoms 2. The ability of the immature brain and skull to adapt to increased intracranial pressure -> Diagnostic Delay!! 3. Surgical resection of the tumor is the most effective therapeutic modality due to limited roles of radiation and chemotherapy 4. High operative mortality
  40. 40.  Department of Neurosurgery, Seoul National University Hospital  During 20 years (1977-1996) , 21 children  Mean age : 5.8 months Brain tumors in children under 1 years – SNUCH study S.K. Chung et al, J Korean Med Sci 1998;13: 65-70
  41. 41.  IICP sign : 11 patients (large head, vomiting, irritability)  Head circumference : 4 patients 에서 90p 미만임. 이중 1 명은 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 – SNUCH study
  42. 42. Brain tumors in children under 1 years – study S.K. Chung et al, J Korean Med Sci 1998;13: 65-70
  43. 43. Neurologic evaluation of infant Tone Hypotonic Hypotonic and weak Development Motor delay only Motor and cognitive delay Careful history , examination and frequently requiring serial examinations !!!!!
  44. 44.  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, appendicular hypotonia  Segmental conditons: anterior horn cell , peripheral nerve, neuromuscular junction, muscle - Motor unit hypotonia  Afferent & efferent limb reflex 가 저하됨. Neurologic evaluation of infant
  45. 45. (A) pull to sit, (B) scarf sign, (C) shoulder suspension, and (D) ventral suspension.
  46. 46. Central hypotonia vs Peripheral hypotonia Amirsalari S. et al., Pak J Med Sci 2008;24(5):744-47
  47. 47. Central hypotonia vs Peripheral hypotonia Amirsalari S. et al., Pak J Med Sci 2008;24(5):744-47
  48. 48. 증상별 Review Case BO & AT/RT
  49. 49. 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
  50. 50. 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
  51. 51. 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
  52. 52. 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
  53. 53. 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,
  54. 54. 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 : anaplastic astrocytoma with features of a plomorphic xanthoastrocytoma A Brain Tumor Presenting as Chronic Intermittent Stridor- Erin et al. Oregon health and Sciences university 2008,
  55. 55. 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’s fundoplication  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
  56. 56. 증상별 Review Case BO & AT/RT
  57. 57. Bronchiolitis Obliterans in children  Bronchiolitis obliterans : 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
  58. 58. Bronchiolitis Obliterans in children Etiology of bronchiolitis obliterans
  59. 59. 1. 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 bronchiolitis obliteranse – Kim et al . Chest 2001) Bronchiolitis Obliterans in children Diagnosis of bronchiolitis obliterans
  60. 60. HRCT – bronchiolitis obliterans
  61. 61.  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 Bronchiolitis Obliterans in children
  62. 62. 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.
  63. 63. 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 cerebellar pontine angle, may have area of necrosis  Supratentorial : large, invasive, necrotic components
  64. 64. 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 )
  65. 65. 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 확 진하기에 충분함!!
  66. 66.  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 Atypical teratoid/rhabdoid tumor- Treatment
  67. 67. ATRT- associated lung problm ? 1. 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 teratoid rhabdoid 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))

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