Download - cholestasis
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Case presentationNICUPREPARED BY DR. MOHAMED DARDASAWIPediatric resident, NPH
Supervised by Dr.Shireen Abed
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Personal history Name: M H ALATARDate of birth : 30/11/2013 Date of admission: 6/12/2013 (6 days)Address : Bit Lahia
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Chief complaintPoor suckling , bluish discoloration of mucus membranes , difficult of breathing since 2 days of age.
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History of present illnessA 6 days male neonate presented to our department with progressive dyspnea started at age of 2 days, associated with cyanosis and poor suckling .
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Perinatal history FT pregnancy, NSVDThe mother has been told 2 days before delivery that fetus has cardiac problem without specific diagnosis.
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Family history
healthy mother 33 years old Healthy father 34 years oldpositive consanguinity 5 healthy siblings ( 2 sister and 3 brother )no history of genetic , metabolic disorders or similar condition
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PHYSICAL EXAMINATIONGeneral appearance :Lethargic , cyanosed ,in respiratory distress
Vital sings :RR: 65 O2 Sat (room air): 65% HR: 70 -100Temp: 38 C BP: unmeasurable ANTHROPOMETRICS: Weight: 3.5 kg , length 50 cm, HC : 35 cm
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Chest : RD II (tachypnea with subcostal and intercostal retractions), decrease air entry bilateral , no added sounds
CVS: poor peripheral perfusion , weak pulses, very faint heart sounds .
Abdomen : soft but distended with hepatomegaly (5cm below costal margin)
CNS : lethargic, hypotonia with weak reflexes SKIN : olive green jaundice
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What is the diagnosis?
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Provisional diagnosisA FT neonate with highly suspected CHD
antenatal diagnosis of cardiac problemRD and poor suckling since 2nd day of lifeEvident signs of hypoperfusion
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laboratory investigationsABGs : PH 7.2 , PCO2 51, PO2 36 , sat 55%, HCO3 19, BE -9 CBC : Hb 15, WBC 14, PLT 63.000sugar 8 , ALT 396, AST 918, ALKP 438 , LDH 871 ,CHOL 91, TG 95, Ammonia 141 T.protein 7.3 , Albumin 3.5 , T.bil 21, D. bil 10 PT 40 ,INR 3 ,PTT 65 urea 130, CRE 0.8 , Uric acid 10 , Na 145, K 7.3 , Ca 7.4 ,Ph 7
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Radiology Chest x ray: Cardiomegaly with bilateral lung infiltrations.U/S Abdomen : hepatomegaly U/S brain : normal ECHO : dilated Cardiomyopathy (secondary), normal heart structure , moderate contractility
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Diagnosis
Cardiomyopathy complicated by: Heart failureHepatic failure Acute kidney injury Suspected mitochondrial disorders
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Management
Cardiorespiratory stabilization and support Keep on MV Dopamine 10 mic /kg/minDobutamine 10mic /kg/min monitoring blood pressure
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ManagementLiver support ADEK vitaminsUrsodeoxycholic acid Kept initially NPO,TPN 1g/kg intralipid and 1g/kg aminosol Then given pregestamil milkRandine , flagyl FFP
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Management
Acute kidney injuryMeticulous attention to fluid input/outputDrugs adjusted to GFR
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ManagementOther lines of managementAntibiotics given empirically to cover any possible sepsisRepeat blood transfusion as neededSymptomatic management: phenobarbitone added for development of seizures
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Clinical course in NICUDay 2: Bad general condition HR 160 RR 50 BP 95/50 sat 95% on nasal O2Assessment :Heart failure with cardiomyopathy( dobutamine) Liver failure AKI Convulsions add luminal
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Day 3: Still in bad general conditionDopamine 10 mic /kg/minDobutamine 10 mic/kg/minPut on MCVStart TPN
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Day 7 : CBC ; Hb 15, WBC 8, PLAT 116ABGs ; PH 7.5 , PCO2 48, PO2 37 , sat 74%, HCO3 37, BE 10 sugar 117 , ALT 46, AST 30, ALKP 438 , T. protein 7.3 , Albumin 3.5 , T.bil 25, D. bil 15 PT 22 ,INR 1.3 ,PTT 46 urea 34, CRE 0,7 , Uric acid 2,4 , Na 145, K 4 , Ca 9 ,Ph 3,7Blood and urine culture : negative
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Day 8 :Still in bad general condition Kidney function improved( urea 54, crea 0,5)Still on MCV ( dopamine and dobutamine )TPNDay 18:Start weaning from MCVDopamine and dobutamine 5mic CVS : irregular heart rate with bradycardia ECG was askedStart pregestamil milk
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Day 20:Stop TPN Extubation from MCVStop dopamine CBC ; Hb 13, WBC 9,7 , PLAT 247ABGs ; PH 7,5 , PCO2 34, PO2 190 , sat 100%, HCO3 26, BE 4 (0N MCV)sugar 63 , urea 31, CRE 0,6 ,, Na 137, Cl 119, K 4 , Ca 10 , T.bil 12,5 D. bil 7,5
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Day 22 :Stop dobutamine Start captoprilDay 25:Cholastasis improved (T. bil 6 , D bil 4 )Lasix DigoxinStop phenobarbitoneDay 29:sugar 73 , urea 19, CRE 0,4 , T.bil 5 , D. bil 3,5T. protein 5 , Albumin 3
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Further investigationsanti-SSA/Ro, anti-SSB/La were negativeTORCH: was asked but not done
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Our final diagnosisDilated cardiomyopathyArrhythmiaCholestasis
Highly suspected IEM (Mitochondrial disorder)
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Discharged to Rantisi Hospital after 31 days of admission On moderate general condition HR 100 RR 59 BP 97/60 SAT 99% ( room air)Digoxin 20 mic /12h poLasix 4mg /8h poCaptopril 1,5 mg /8h Ursodeoxycholic acid 40mg /8h poAdol 2 drop /24 poVit k 2mg /24 po
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What has been done in the referral hospital?Severe cardiomyopathy AV block Sebrrhic dermatitis RSV bronchiolitisAcintobacter central line colonization
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Pacemaker insertionLasix 3 mg /24h Captopril 1.5 mg /12h Spironolactone 12.5 mg /24h Carvedilol 1mg /24h Aquacream emollitionOintment polycutan
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Diagnosis CARDIOMYOPATHY COMPLICATED BY AV BLOCk , AKI and CHOLESTASIS
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NEONATAL CHOLESTASIS
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DEFINITIONConjugated hyperbilirubinemia is defined as a conjugated bilirubin concentration greater than 2 mg/dL or more than 20% of total bilirubinProlonged elevation of the serum levels of conjugated bilirubin beyond the 1st 14 days of life
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ETIOLOGIESBasic distinction is between:Extrahepatic etiologiesIntrahepatic etiologies
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EXTRAHEPATIC ETIOLOGIESExtrahepatic biliary atresiaCholedochal cystBile duct stenosisSpontaneous perforation of the bile ductCholelithiasisInspissated bile/mucus plugExtrinsic compression of the bile duct
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INTRAHEPATIC ETIOLOGIESIdiopathicToxicGenetic/ChromosomalInfectiousMetabolicMiscellaneous
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INTRAHEPATIC ETIOLOGIESIdiopathic Neonatal HepatitisToxicTPN-associated cholestasisDrug-induced cholestasisGenetic/ChromosomalTrisomy 18Trisomy 21
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INTRAHEPATIC ETIOLOGIESInfectiousBacterial sepsis (E. coli, Listeriosis, Staph. aureus)TORCHSHepatitis B and CVaricellaCoxsackie virusEcho virusTuberculosis
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INTRAHEPATIC ETIOLOGIESMetabolicDisorders of Carbohydrate MetabolismGalactosemiaFructosemiaGlycogen Storage Disease Type IVDisorders of Amino Acid MetabolismTyrosinemiaHypermethioninemia
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INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Disorders of Lipid MetabolismNiemann-Pick diseaseWolman diseaseGaucher diseaseCholesterol ester storage diseaseDisorders of Bile Acid Metabolism3B-hydroxysteroid dehydrogenase/isomeraseTrihydroxycoprostanic acidemia
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INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Peroxisomal DisordersZellweger syndromeAdrenoleukodystrophyEndocrine DisordersHypothyroidismIdiopathic hypopituitarism
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INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Miscellaneous Metabolic DisordersAlpha-1-antitrypsin deficiencyCystic fibrosisNeonatal iron storage diseaseNorth American Indian cholestasis
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INTRAHEPATIC ETIOLOGIESMiscellaneousAlagille syndromeNonsyndromic paucity of intrahepatic bile ductsCarolis diseaseBylers diseaseCongenital hepatic fibrosis
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COMMON ETIOLOGIESIdiopathic neonatal hepatitis 35-40%Extrahepatic biliary atresia 30%Alpha-1-antitrypsin deficiency 5-10%Intrahepatic cholestasis syndromesPremature infantsTPN-associatedSepsisDrug-induced
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Treatable causes of cholestasisSepsisHypothyroidism or hypopituitarism GalactosemiaExtrahepatic biliary atresia
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Is there association between arrhythmia and cholestasis??
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Neonatal cholestasis associated with arrhythmia
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ECG showing third degree heart block with atrioventricular dissociation and slow ventricular rate (atrial rate is 150, ventricular rate is 85 bpm).
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Congenital heart block Congenital heart block is a rare disorder.It has an incidence of about 1 in 22,000 live births. neonatal lupusstructural heart disease(L TGA, AV canal defects )Many times, no clear etiology is determined for isolated CAVBThe prognosis for congenital complete heart block is usually favorable
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