cholestasis

Case presentationNICUPREPARED BY DR. MOHAMED DARDASAWIPediatric resident, NPH

Supervised by Dr.Shireen Abed

Personal history Name: M H ALATARDate of birth : 30/11/2013 Date of admission: 6/12/2013 (6 days)Address : Bit Lahia

Chief complaintPoor suckling , bluish discoloration of mucus membranes , difficult of breathing since 2 days of age.

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 .

Perinatal history FT pregnancy, NSVDThe mother has been told 2 days before delivery that fetus has cardiac problem without specific diagnosis.

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

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

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

What is the diagnosis?

Provisional diagnosisA FT neonate with highly suspected CHD

antenatal diagnosis of cardiac problemRD and poor suckling since 2nd day of lifeEvident signs of hypoperfusion

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

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

Diagnosis

Cardiomyopathy complicated by: Heart failureHepatic failure Acute kidney injury Suspected mitochondrial disorders

Management

Cardiorespiratory stabilization and support Keep on MV Dopamine 10 mic /kg/minDobutamine 10mic /kg/min monitoring blood pressure

ManagementLiver support ADEK vitaminsUrsodeoxycholic acid Kept initially NPO,TPN 1g/kg intralipid and 1g/kg aminosol Then given pregestamil milkRandine , flagyl FFP

Management

Acute kidney injuryMeticulous attention to fluid input/outputDrugs adjusted to GFR

ManagementOther lines of managementAntibiotics given empirically to cover any possible sepsisRepeat blood transfusion as neededSymptomatic management: phenobarbitone added for development of seizures

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

Day 3: Still in bad general conditionDopamine 10 mic /kg/minDobutamine 10 mic/kg/minPut on MCVStart TPN

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

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

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

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

Further investigationsanti-SSA/Ro, anti-SSB/La were negativeTORCH: was asked but not done

Our final diagnosisDilated cardiomyopathyArrhythmiaCholestasis

Highly suspected IEM (Mitochondrial disorder)

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

What has been done in the referral hospital?Severe cardiomyopathy AV block Sebrrhic dermatitis RSV bronchiolitisAcintobacter central line colonization

Pacemaker insertionLasix 3 mg /24h Captopril 1.5 mg /12h Spironolactone 12.5 mg /24h Carvedilol 1mg /24h Aquacream emollitionOintment polycutan

Diagnosis CARDIOMYOPATHY COMPLICATED BY AV BLOCk , AKI and CHOLESTASIS

NEONATAL CHOLESTASIS

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

ETIOLOGIESBasic distinction is between:Extrahepatic etiologiesIntrahepatic etiologies

EXTRAHEPATIC ETIOLOGIESExtrahepatic biliary atresiaCholedochal cystBile duct stenosisSpontaneous perforation of the bile ductCholelithiasisInspissated bile/mucus plugExtrinsic compression of the bile duct

INTRAHEPATIC ETIOLOGIESIdiopathicToxicGenetic/ChromosomalInfectiousMetabolicMiscellaneous

INTRAHEPATIC ETIOLOGIESIdiopathic Neonatal HepatitisToxicTPN-associated cholestasisDrug-induced cholestasisGenetic/ChromosomalTrisomy 18Trisomy 21

INTRAHEPATIC ETIOLOGIESInfectiousBacterial sepsis (E. coli, Listeriosis, Staph. aureus)TORCHSHepatitis B and CVaricellaCoxsackie virusEcho virusTuberculosis

INTRAHEPATIC ETIOLOGIESMetabolicDisorders of Carbohydrate MetabolismGalactosemiaFructosemiaGlycogen Storage Disease Type IVDisorders of Amino Acid MetabolismTyrosinemiaHypermethioninemia

INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Disorders of Lipid MetabolismNiemann-Pick diseaseWolman diseaseGaucher diseaseCholesterol ester storage diseaseDisorders of Bile Acid Metabolism3B-hydroxysteroid dehydrogenase/isomeraseTrihydroxycoprostanic acidemia

INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Peroxisomal DisordersZellweger syndromeAdrenoleukodystrophyEndocrine DisordersHypothyroidismIdiopathic hypopituitarism

INTRAHEPATIC ETIOLOGIESMetabolic (cont.)Miscellaneous Metabolic DisordersAlpha-1-antitrypsin deficiencyCystic fibrosisNeonatal iron storage diseaseNorth American Indian cholestasis

INTRAHEPATIC ETIOLOGIESMiscellaneousAlagille syndromeNonsyndromic paucity of intrahepatic bile ductsCarolis diseaseBylers diseaseCongenital hepatic fibrosis

COMMON ETIOLOGIESIdiopathic neonatal hepatitis 35-40%Extrahepatic biliary atresia 30%Alpha-1-antitrypsin deficiency 5-10%Intrahepatic cholestasis syndromesPremature infantsTPN-associatedSepsisDrug-induced

Treatable causes of cholestasisSepsisHypothyroidism or hypopituitarism GalactosemiaExtrahepatic biliary atresia

Is there association between arrhythmia and cholestasis??

Neonatal cholestasis associated with arrhythmia

ECG showing third degree heart block with atrioventricular dissociation and slow ventricular rate (atrial rate is 150, ventricular rate is 85 bpm).

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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