Dr. Rithwik Sunil, Dr Sathyajith G Nair, Dr C Jayakumar
Three month old male child presented with complaints of passing pale colored stools since birth
1st child of NCM
Antenatal History- Mother had PIH and was on medications.USG scan at 8th month showed pelvi calyceal dilation.
Natal History- Preterm LSCS at 34 weeks/Birth Weight-2 kg/(Ind:leaking PV)/CIAB Postnatal History- H/o initialunconjugated hyperbilirubinemia and was treated with intermittent phototherapy for 5 days. Ba was discharged on day 14 of life. Later he developed progressive cholestatic jaundice and was referred to AIMS for further management.
He is passing pale stools as per mother from the time of discharge (1 week of birth). He never passed yellow stools since then. Also passes high colored urine.
No Rh incompatibility.
At Admission Afebrile, jaundiced Vitals-
Temp- 98.6F, HR-110/min, RR- 38/min, Spo2- 99% (In room air), CRT < 3 sec, BP-90/60mmHg
Pallor + , Icterus + +, No Clubbing, Cyanosis , Lymphadenopathy, edema.
Broad Forehead, Deep set eyes, upslanting palpable fissure, triangular face, prominent ears, pinched nose, pointed chin.
RS-AEBE,NVBS
GIT- Abdomen-distended, non tender, liver palpable 3 cm below the right costal margin, firm with liver span of 5 cm, no splenomegaly, no ascites.
CVS- No cardiomegaly, S1 normal, S2 Loud/ grade 3 Ejection systolic murmur better heard in pulmonary area.
CNS- Conscious, moving all four limbs, normal tone, power and reflexes. No signs of meningeal irritation.
Differential Diagnosis
Neonatal hepatitis
Biliary atresia
Dubin-Johnson Syndrome
Intra uterine infections
E. coli sepsis
Intra hepatic cholelthiasis
Investigations
Echo; PFO present, Closing PDA seen.
HIDA scan done after phenobarbitone priming showed non progression of tracer into intestine after 24hrs.
USG Abdomen showed contracted GB (both pre and post prandial
Intra operative cholangiogram : not suggestive of biliary atresia
Ophthalmology evaluation: Bilateral posterior embryotoxon
Liver biopsy :canalicular cholestatsis and paucity of intrahepatic bile ducts
Next generation sequencing was sent : Variation detected in JAG1 gene
Based on the investigations and dysmorphic facies, the diagnosis of
Alagille Watson was reached
Child was kept under strict multidisciplinary follow up since then
Alagille Watson syndrome
Alagille syndrome (ALGS) is a rare genetic disorder that can affect multiple organ systems of the body including the liver, heart, skeleton, eyes and kidneys. The specific symptoms, organ system involvement and severity of Alagille syndrome can vary greatly from one person to another, even within the same family. Some individuals may have mild forms of the disorder while others may have more serious forms.
The main body systems involved are the liver, heart, skeleton, face and eyes, but penetrance is variable, both within and between families.
The main clinical features and malformations are chronic cholestasis due to paucity of intrahepatic bile ducts, congenital heart disease primarily affecting the pulmonary outflow tract and vasculature, butterfly vertebrae, characteristic facies with a broad forehead, posterior embryotoxon and/or anterior segment abnormalities of the eyes, and pigmentary retinopathy. Additional features are intracranial bleeding and dysplastic kidneys.
The diagnosis is essentially clinical, dominated the consequences of bile duct paucity – chronic cholestasis – and congenital heart disease.
Almost 90% of cases are due to mutations in JAG1 (20p12), an additional 5–7% are due to deletions incorporating JAG1, and about 1% is due to mutations in NOTCH2 (1p13). ALGS may be referred to as type 1 (JAG1-associated) or type 2 (NOTCH2-associated).
Genetic counselling for autosomal dominant inheritance must take account of variable expression, reduced penetrance and the possibility of germline mosaicism.
Therapy is focused on the consequences of liver disease, as well as the surgical and medical treatment of congenital heart defects.
The natural history and morbidity is related to the involvement, or otherwise, of various organ systems, especially the liver and heart.
Carry home message
Intra operative cholengiogram Is a must procedure before Kasi procedure