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Year : 2021  |  Volume : 1  |  Issue : 3  |  Page : 218-220

Jaundice: From physiological to pathological

Department of Pediatrics, Hamdard Institute of Medical Sciences and Research, Delhi, India

Date of Submission25-Jul-2021
Date of Decision13-Aug-2021
Date of Acceptance13-Aug-2021
Date of Web Publication31-Aug-2021

Correspondence Address:
Dr. Nidhi Bedi
Department of Pediatrics, Hamdard Institute of Medical Sciences and Research, Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ipcares.ipcares_256_21

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How to cite this article:
Bedi N. Jaundice: From physiological to pathological. Indian Pediatr Case Rep 2021;1:218-20

How to cite this URL:
Bedi N. Jaundice: From physiological to pathological. Indian Pediatr Case Rep [serial online] 2021 [cited 2021 Sep 26];1:218-20. Available from: http://www.ipcares.org/text.asp?2021/1/3/218/325096

Jaundice is a common complaint encountered by pediatricians, with onset from birth and continuing till adolescence. The underlying etiology varies from benign physiological causes to severe medical/surgical illnesses. This month we focus on some uncommon causes of jaundice that have been reported recently.

Oliveira GN, Dinis I, Noruegas MJ, et al. A rare cause of neonatal persistent jaundice. BMJ Case Rep 2017;2017:r-223306.

A boy was born at term gestation to a 22-year-old primigravida mother with gestational diabetes and cytomegalovirus (CMV) infection detected in the first trimester. Her antenatal ultrasounds were normal. The baby cried immediately at birth and was discharged on day 2 of life. Examination was unremarkable, except for jaundice which was outside the phototherapy range. On follow-up after 48 h, the baby was lethargic, hypotonic, and deeply icteric. The vitals were normal and liver and spleen were palpable. The serum bilirubin level was 694 umol/l (indirect: 681 umol/l). Hemoglobin was 19 g/dL, hematocrit 58%, white blood cell count 11.6 × 109/L, and platelet count 128 × 109/L. Hyponatremia was noted. The glucose, urea, creatinine, and coagulation studies were normal. Although the baby responded to intensive phototherapy, he developed rebound hyperbilirubinemia whenever it was attempted to stop the phototherapy. Enteral feeds were started and oral sodium chloride was added due to persistent hyponatremia. Ultrasonography (USG) was performed. The cranial USG was normal, but the abdominal USG revealed enlarged adrenal glands, with hypoechoic heterogeneous masses, measuring 32 mm × 21 mm × 17 mm on the right and 33 mm × 23 mm × 17 mm on the left. These were suggestive of bilateral adrenal hemorrhage (AH). The neonatal thyroid function test (TFT) detected raised thyroid-stimulating hormone (TSH) levels, following which levothyroxine was started on day 14. A follow-up abdominal Doppler US on day 30 reaffirmed the bilateral AH. The hormonal profile identified raised adrenocorticotropic hormone, prolactin, aldosterone, and renin levels and low cortisol level. Together with the elevated TSH, this was indicative of hypothyroidism secondary to adrenal insufficiency. Hydrocortisone was started, and the baby exhibited improvement in hypotonia and feeding. The neurological and metabolic evaluations normalized. After 3 months, the TFT normalized and levothyroxine was stopped. At 6 months, fludrocortisone was added due to inappropriately activated renin–angiotensin–aldosterone system. Regression of the sizes and echogenicity of both adrenal masses were observed at 6 months. At 22 months, the child was asymptomatic on corticosteroid replacement therapy.

Adrenal hemorrhage occurs during neonatal period mostly in babies having difficult delivery, large for gestational age, maternal diabetes, birth asphyxia, trauma, or septicemia. It is mostly unilateral and on the right side. Bilateral adrenal hemorrhage needs replacement. The condition generally resolves in 3–6 months with a serial ultrasound monitoring.

Thornton KM, Nyp MF, Music Aplenc L, et al. An unusual case of rapidly progressive hyperbilirubinemia. Case Rep Pediatr 2013;2013:284029.

A 22-year-old fourth gravida mother with an uneventful antenatal period delivered a male baby at 40 weeks of gestation via vaginal delivery. The Apgar score was 7 and 8 at 1 and 5 min, respectively. He received intramuscular Vitamin K at birth. At 4 h of age, a hematoma was noted at the injection site. A few hours later, the baby developed jaundice. The serum bilirubin was 33.3 mg/dL at 29 h of age that increased to 39 mg/dl at 32 h of life. The maternal blood group was O positive. The baby was transferred to the neonatal intensive care unit and started on intensive phototherapy. On examination he was irritable, hypertonic, had intermittent opisthotonus and a high pitched cry. The baby's blood group was O positive. The direct Coombs test was negative. Salient investigation reports were a hemoglobin of 11.6 gm/dL, thrombocytopenia (platelet count: 26,000/mm3), elevated reticulocyte count (4.9%), and increased aspartate transaminase (AST) (248 U/L). All other reports were normal, including the white blood cell count, prothrombin time, partial thromboplastin time, and fibrinogen. Double volume exchange transfusion was indicated at 35 h of life. Post exchange, the total serum bilirubin decreased to 23.3 mg/dL. This further declined over the next few days. However, the baby also developed seizures and apnea, for which mechanical ventilation was required for 2 days. On the 8th day, magnetic resonance imaging of the brain revealed a T1-weighted hyperintensity of the globus pallidus. The peripheral blood smear showed microangiopathic hemolysis, suggestive of thrombotic thrombocytopenia (TTP). The ADAMTS13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) enzymatic activity was measured and found to be deficient (total activity <5%). Gene sequencing analysis showed a heterozygous missense mutation in the ADAMTS13 gene (c. 304C >T [p. Arg102Cys]). Repeat testing of ADAMTS13 level at 5 months of age, reconfirmed an enzyme activity level of <5%. On follow-up at 8 months, the child had auditory predominant kernicterus, mild truncal hypotonia, and impaired upward gaze and a severe auditory neuropathy spectrum disorder as checked on auditory testing. The patient's neurologic deficits gradually improved, but significant hearing loss persisted. The child has been on regular prophylactic fresh frozen plasma (FFP) infusions and planned for cochlear implants. Congenital TTP is a rare form caused due to mutation of the gene coding for ADAMTS13. It is inherited in an autosomal recessive pattern. Deficiency of this gene leads to decreased cleavage activity thereby causing ultra-large vWF multimers to accumulate. As a result, there is formation of platelet-rich intravascular microthrombi. This congenital deficiency is mainly corrected by regular FFP transfusions.

El Nabouch M, Rakotoharinandrasana I, Ndayikeza A, et al. Infantile pyknocytosis, a rare cause of hemolytic anemia in newborns: Report of two cases in twin girls and literature overview. Clin Case Rep 2015;3:535-8.

A bi-chorionic, bi-amniotic twin was delivered to a 39-year-old mother at 36 weeks of gestation. The mother had a history of multiple abortions but no family history of jaundice, blood transfusion, splenomegaly, cholelithiasis, or any similar condition. Both babies had normal Apgar scores and birth weights (twin 1 – 2840 g and twin 2 – 2800 g). Both babies developed jaundice which settled with phototherapy, and they were discharged on day 5 of life. The first twin was brought back on day 15 with jaundice, poor feeding, and poor weight gain. On examination, there was pallor but no organomegaly. Investigations showed a total bilirubin level of 15.5 mg/dL and conjugated levels of 0.47 mg/dl. Hemoglobin was 5.5 g/dL, hematocrit 18%, reticulocyte count 22.6%, and haptoglobin <0.15 g/L. The baby blood group was O positive, while the maternal blood group was A positive. Direct Coombs test was negative. Kidney function tests, liver function tests, and glucose-6-phosphate dehydrogenase (G6PD) levels were normal. The peripheral smear showed multiple pyknocytes. The second twin also developed a similar picture. Both babies developed pustular skin lesions suggestive of cutaneous staphylococcal infection. After treatment with packed cell transfusion, phototherapy, and antibiotics, they were discharged with a diagnosis of infantile pyknocytosis.

Infantile pyknocytosis is a rare neonatal condition which has two most common presentations. First is the early neonatal jaundice often resistant to phototherapy. The second presentation is hemolytic anemia noted between the second and fourth weeks of neonatal period. However, one has to be careful that pyknocytes can be physiological in nearly 5% of preterm infants during the first week of birth. These cells can also be seen in Vitamin E deficiency anemia and pyruvate kinase deficiency. Treatment of infantile pyknocytosis is mainly supportive.

Mohan P, Bavanandam S, Sunil Kumar KS. A rare cause of obstructive jaundice – Case report. Ann Clin Gastroenterol Hepatol 2017;1:1-3.

An 11-year-old boy presented with complaints of abdominal pain, fever, jaundice, and dark-colored urine for 5 days. There was no history of drug intake and family history of jaundice. Past medical records showed hospital admission at 7 years of age for prolonged fever associated with generalized lymphadenopathy and hepatosplenomegaly. The bone marrow examination done then was suggestive of eosinophilic precursors. Diagnostic laparotomy with cholecystectomy was done. Lymph node biopsy done remained inconclusive. In the present admission, examination showed icterus and tender hepatomegaly with midline surgical scar. Reevaluation of histology of the earlier resected gall bladder specimen, showed xanthogranulomatous changes with numerous eosinophils and marked fibrosis suggestive of eosinophilic cholecystitis. Blood reports showed a total count of 7300 cells/cumm, of which 13% were eosinophils. The serum bilirubin was 4.5 mg/dl, direct bilirubin 2.9 mg/dl, liver enzymes raised (alanine aminotransferase: 165 IU/L, AST: 125 IU/L, serum alkaline phosphatase: 2875 IU/L, and gamma-glutamyl transferase: 445 IU/L). Serum immunoglobulin E levels were > 1000 IU with an absolute eosinophil count of 920 cells/cumm. Kidney function tests and pancreatic enzymes were within normal limits, and markers for viral hepatitis, autoimmune liver disease, and HIV were negative. MRI abdomen showed biliary dilatation with pancreatic head mass. A diagnosis of eosinophilic cholangiopathy was made, and the child started on oral prednisolone. The patient responded well to treatment with reversal of deranged blood parameters.

Eosinophilic cholangiopathy is a condition associated with diffuse infiltration of the gallbladder wall, bile ducts, and pancreas termed as eosinophilic cholecystitis, eosinophilic cholangitis, and eosinophilic pancreatitis, respectively. The diagnosis can be made by appearance of stenosis or wall thickening of biliary system, histopathological findings of eosinophilic infiltration, and reversibility of biliary abnormalities without treatment or following steroid treatment.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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