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PICU Morbidity Khlaire D. Pioquinto, M.D.. Objectives To present a case of an infant with jaundice. To discuss the probable treatable causes of acute.

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Presentation on theme: "PICU Morbidity Khlaire D. Pioquinto, M.D.. Objectives To present a case of an infant with jaundice. To discuss the probable treatable causes of acute."— Presentation transcript:

1 PICU Morbidity Khlaire D. Pioquinto, M.D.

2 Objectives To present a case of an infant with jaundice. To discuss the probable treatable causes of acute liver failure in infancy.

3 General Patient Information CC 2 months old Male Date of Admission: January 2, 2014

4 Vomiting Chief Complaint

5 History of Present Illness Product of IVF, no consanguinity Born full term via NSD to a 36 y.o. G1P1 (1001) at 37 1/7 weeks AOG BW 2655g, BL 47, HC 31cm, MT 38 weeks, AGA, AS 9,9 Stayed in the NICU for hypoglycemia (Hgt 12 mg/dL), hyperbilirubinemia sec. to ABO incompatibility, clinical sepsis (blood culture negative), completed 7-day course of IV Ampicillin and Cefotaxime Sent home on the 8 th day of life stable with decreased jaundice

6 History of Present Illness Breastfed every 1-2 hours with good suck Good activity Regular bowel movement No acholic stools, light – dark yellow urine At home

7 Vomiting episodes after every feeding No fever, no diarrhea 2 days PTA Persistence of post-prandial vomiting Poor appetite and activity “Fussy and colicky” Day of Admission History of Present Illness ER Consult

8 Maternal History In-vitro fertilization – 2x, worked up for TORCH infection – told to have normal results Regular prenatal check-up No infection OGCT – normal No BP elevations HBsAg nonreactive No intake of teratogenic drugs

9 Past Medical History Normal newborn screen

10 Family History Maternal side: (+) hypertension, diabetes, psoriasis

11 At the ER T 36.8C HR 140 RR 40 BP 80/50 Wt 3.8kg (z-score = 0.5) Generalized jaundice Icteric sclerae, pink conjunctivae HC 39cm; flat, patent fontanelles Nonsunken eyeballs, moist lips Clear breath sounds Regular cardiac rhythm Soft abdomen, distended, AC 38cm Scrotal mass, (+) transillumination, right Full pulses, no cyanosis

12 Hyperbilirubinemia, etiology to be determined Vomiting, unspecified Hydrocoele, right Assessment

13 Plans Diagnostics – CBCPC – Urinalysis – Bilirubin levels – ALT, AST – Hgt – Whole abdominal ultrasound Therapeutics IVF: D5IMB at maintenance rate

14 URINALYSIS RBC17 WBC2 EPITHELIAL CELLS4 CASTS0 BACTERIA32 CBChgbhctwbcneulymmonoeosplt 1/3/ Total Bilirubin ( ) Direct Bilirubin (0-50) Indirect Bilirubin ( ) SGPT (0-55 u/l) 297 u/l SGOT (5-34 u/l) 737 u/l Hgt = 84 mg/dL

15 Ultrasound of the abdomen Mildly prominent-sized kidneys, may be due to mild inflammation changes or may still be normal. Unremarkable liver, pancreas and spleen. Partially contracted gallbladder. Negative biliary ectasia. Negative for mass ascites.

16 SUBJECTIVEOBJECTIVEASSESSMENT Afebrile Poor activity (+) tea-colored urine No vomiting No cough Lethargic HR 100 RR 44 T % (+) generalized jaundice Clear breath sounds, (+) shallow subcostal retractions Distended abdomen AC: 38cm  39cm Liver edge not palpable, (+) splenomegaly (+) hydrocoele, right Full Pulses, (+) clubbing Neonatal hepatitis Hepatic encephalopathy Hydrocele, right 3 rd Hospital Day

17 PLAN DiagnosticsTherapeutics Chest Xray CMV of mother and patient VDRL or RPR Total Protein, albumin, globulin Na, K, iCa Serum ammonia PT, PTT Referral to GI specialist Referral to Infectious Referral to Surgery Ampicillin IV 105mkday Amikacin IV 57mkday Vitamin K 4mg/SIVP Ranitidine 4mg/IV q 8 25% Albumin infusion Furosemide 4mg/SIVP Lactulose Suspension 4mL until 5-6 stools/day 02 5lpm via face mask NGT inserted PICU Transfer

18 Creatinine ( mg/dl) 0.31 mg/dl BUN (8.96 – 20.73mg/dl) 4.76 mg/dl Ammonia ( ) 212.8ug/dL Na ( mmol/L) 126 mmol/l K ( mmol/L) 2.5 mmol/l iCa ( mmol/l) 1.16 mmol/l PT Pt53.8 Control13.3 %Activity0.13 INR5.76 APTT Pt94.1 Control30.9 Lactulose q6 Corrected via with proper IVF with K incorporation Vitamin K 1mkdose SIVP, OD N-Acetylcysteine Vitamin K 1mkdose SIVP, OD N-Acetylcysteine

19 Total Protein ( g/dL) 5g/dl A/G Ratio ( ) 2.85 Globulin ( g/dl) 1.3 g/dl Albumin (3.50-5g/dl) 3.70 g/dl RBS mg/dl 25% albumin transfusion Chest X ray Normal Scrotal Ultrasound Hydrocoele, right, probably communicating VDRLNonreactive

20 Plans Therapeutics Hypokalemia and Hyponatremia correction Acetylcysteine 500mg/IV every 4 hours Spironolactone 25mg/tab, 6mg pptab/NGT BID (1.5mkdose) Vit A, D, E, K, UDCA, Zinc Diagnostics Daily AC monitoring Referral to a Geneticist for metabolic genetic workup of hepatic failure – Urinary organic acid profile Referral Hepatobiliary Surgeon

21 Family conference Discussed the diagnosis of CMV hepatitis and hepatic failure Acquisition of CMV infection – Patient probably acquired infection via transmission transplacentally from the mother (1-3 mos of pregnancy) Plan – Confirm CMV infection (test mother) – Metabolic work-up: test liver parameters to monitor for prognostication purposes – Liver biopsy – cannot be done yet

22 Option: – Ultimately, liver transplant – Supportive treatment: Nutrition, Vitamins, UDCA, Spironolactone, Albumin transfusion, Lactulose Goals: – Decrease jaundice – Normalize PT, PTT Prognosis Prevalence Family conference

23 3 rd Hospital day PT1/31/4 Pt Control13.3 %Activity INR APTT Pt Control Ampicillin IV 105mkday Amikacin IV 57mkday Vitamin ADEK UDCA Spironolactone N-Acetylcysteine Lactulose Ranitidine 4mg/IV q 8 Ampicillin IV 105mkday Amikacin IV 57mkday Vitamin ADEK UDCA Spironolactone N-Acetylcysteine Lactulose Ranitidine 4mg/IV q 8 SubjectiveObjectiveAssessment No vomiting Improving oral intake Improved sensorium HR 100 RR 44 T 37 BP 86/51 mmHg % Neonatal hepatitis Hepatic encephalopathy Hydrocele, right

24 SUBJECTIVEOBJECTIVE Afebrile Improved feeding 5-6x BM UO 6.3mL/kg/hr Awake, more alert HR 106 RR 48 T 37 BP 80/50 mmHg % (+) generalized jaundice Clear breath sounds, Good air entry, no retractions Distended abdomen (+) splenomegaly (+) hydrocoele, right Full Pulses, (+) clubbing 4 th Hospital Day NH4 ( ug/dl) ug/dl GGT (12-64 u/l) 50 u/l PT Pt Control13.3 %Activity INR APTT Patient Control3028.1

25 CMV (Patient) IgGPositive IgMPositive CMV (mother) IgGPositive IgM Negative Organic Acid and Amino Acid Analysis Negative AFP ( ng/ml) 136,500 ng/ml CBChgbhctwbcneulymmonoeosplt 1/6/ Total Bilirubin ( ) Direct Bilirubin (0-0.5 mg/dL) Indirect Bilirubin ( )

26 4 th Hospital Day AssessmentPlant CMV Hepatitis in Hepatic Failure Ampicillin IV 105mkday Amikacin IV 57mkday Vitamin ADEK UDCA Spironolactone N-Acetylcysteine Lactulose Ranitidine 4mg/IV q 8 Propranolol 4mg 3x/day Transferred to regular room on the 6 th Hospital Day

27 Treatable cause of acute liver failure in infancy Cytomegalovirus infection Petechiae or purpura (79%), hepatosplenomegaly (74%), jaundice (63%), prematurity and blueberry muffin spots consistent with extramedullary hematopoiesis. Laboratory abnormalities: elevated hepatic transaminase and bilirubin levels (as much as half is conjugated), anemia, and thrombocytopenia. Hyperbilirubinemia persists beyond the period of physiologic jaundice.

28 Treatable cause of acute liver failure in infancy Cytomegalovirus infection CMV (Patient) IgGPositive IgMPositive CMV (mother) IgGPositive IgM Negative CMV PCR: 298 copies/mL

29 Treatable cause of acute liver failure in infancy Hepatitis B – Mother and patient: HBsAg negative Galactosemia – newborn screen negative, no diarrhea on exclusive breastfeeding Hereditary fructose intolerance – no intake of fructose yet Congenital syphilis – Both mother and patient are VDRL negative

30 Treatable cause of acute liver failure in infancy Neuroblastoma – Ultrasound liver normal in size with homogenous parenchymal echopattern, smooth contour, no discrete focal mass lesion, no intrahepatic bile duct dilatation, portal vein normal in caliber, gall bladder partially contracted 2.6 x 0.62 cm, visualized common bile duct 0.26 cm in diameter

31 Treatable cause of acute liver failure in infancy Hereditary tyrosinemia – urine organic acid, succinylacetate screen negative Mitochondrial defects – serum lactate normal at 11.8 mg/dl (NV ) HIV – Mother negative in her IVF work up

32 Treatable cause of acute liver failure in infancy Neonatal hemochromatosis – serum ferritin slightly increased at 413 ng/ml (NV – Transferrin saturation 68% (NV 15-55%) – Reticulocyte count normal at 0.006( NV ) – Liver biopsy not done as INR has been >3.5 despite Vitamin K daily. – No active bleeding.

33 11th Hospital Day SUBJECTIVEOBJECTIVE Afebrile Good appetite and activity No vomiting Sleeps well Good urine output Awake and alert HR 118 RR 44 T 36.5 (+) generalized jaundice and icteric sclerae Clear breath sounds, Soft abdomen (+) splenomegaly (+) hydrocoele, right Full Pulses, (+) clubbing Discharged

34 Acute Liver Failure probably secondary to Severe Neonatal Hepatitis Hepatic Encephalopathy Final Diagnosis

35 Home Medications Multivitamins Vit ADEK UDCA Zinc N-Acetylcysteine 500mg/IV every 4 hours Propranolol 10mg/tab, 4mg/pptab 3x a day Spironolactone 4mg/pptab 2x a day Oral KCl 5meq BID

36 Update 4months old Currently in Singapore where the patient is continuously being worked up pending possible liver transplant

37 Galactosemia Most common metabolic cause of liver disease in the neonate. Inherited as an autosomal recessive trait and develops because of the deficiency of galactose-1-phosphate uridyl transferase (GALT). Clinical manifestations: jaundice, hepatosplenomegaly, feeding difficulties and vomiting, hypoglycemia, lethargy, irritability, seizures, cataracts. Delayed diagnosis results in cirrhosis and mental retardation Management consists of substituting a lactose-free formula for breast-feeding or for a standard formula, and, later, a galactose-free diet. Cloherty J. Eichenwald E., Hansen A., Manual of Neonatal Care, 7 th edition

38 Hereditary Fructose Intolerance deficiency of the enzyme aldolase B asymptomatic until they ingest fructose, sucrose, or sorbitol Clinical manifestations: hypoglycemia, jaundice, hepatomegaly, vomiting, lethargy, irritability, seizures, and abnormal LFTs Management is done by elimination of sucrose, fructose, and sorbitol from the diet Cloherty J. Eichenwald E., Hansen A., Manual of Neonatal Care, 7 th edition

39 Hereditary Tyrosinemia A low protein diet may be required in the management of tyrosinemia. Recent experience with NTBC has shown to be very effective. The most effective treatment in patients with tyrosinemia type I seems to be full or partial liver transplant.

40 Hereditary hemochromatosis a common autosomal recessive disorder that results in excessive iron deposition in the liver as well as in extrahepatic sites Also known as neonatal iron storage disease frequently are premature or are small for gestational age features of liver failure with hypoalbuminemia, hypoglycemia, coagulopathy, low fibrinogen, and, frequently, thrombocytopenia and anemia.

41 Liver dysfunction. Galactosemia is the most common metabolic cause of liver disease in the neonate. Hepatomegaly with hypoglycemia and seizures suggest glycogenosis type I or III, gluconeogenesis defects, or hyperinsulinism. Hereditary fructose intolerance (when there is ingestion of fructose or sucrose, in the neonate usually a soy formula), tyrosinemia type I, neonatal hemochromatosis, and mitochondrial diseases can also present predominantly with liver dysfunction in the neonate. Cholestatic jaundice with failure to thrive is observed primarily in alpha-1-antitrypsin deficiency, Byler disease, and Niemann-Pick disease type C.


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