Indian Pediatrics 2001; 38: 1325-1326  

Fibrosis of the Liver in Meckel Gruber Syndrome

Kumar and co-workers in their article titled "autosomal recessive polycystic kidney disease with congenital fibrosis and encephalocele" state that congenital hepatic fibrosis has not been reported with Meckel Gruber syndrome(1). However we wish to emphasize that fibrosis of the liver has been reported in this syndrome, although the association is not a constant feature(2-4). The liver will be abnormally firm in consistency. Microscopy shows portal tracts expanded by fibrosis. Sometimes the portal tracts link up to form more extensive fibrous tracts(2). This appearance is similar to that seen in congenital hepatic fibrosis associated with autosomal recessive polycystic kidney disease(2).

The macroscopic appearance of the kidneys in infantile polycystic kidney disease and Meckel Gruber syndrome are also similar. In both conditions there is reniform enlargement of the kidneys with small cysts being visible through the renal capsule(5). Thus the discriminating feature between the two conditions will be the presence of posterior encephalocele and polydactyly which have not been described in autosomal recessive polycystic kidney disease. There-fore we feel that the case described by Kumar and coworders(1) is more likely to be an example of Meckel Gruber syndrome, as the infant had an encephalocele. Distinguishing between these two lethal conditions however is somewhat academic as both conditions are inherited as autosomal recessive and therefore have a similar recurrence risk.

In an ongoing necropsy study of 124 lethal congenital malformations during the past 6 years, we have seen 3 neonates with Meckel-Gruber syndrome and two with autosomal recessive polycystic kidney disease (unpublished data). Of these one neonate with Meckel Gruber syndrome comprising the typical triad of polycystic kidneys, posterior encephalocele and post-axial polydactyly, had fibrosis of the liver.

M.V.C. de Silva,
H.M. Senanayake,
Departments of Pathology and Obstetrics and Gynecology,
 Faculty of Medicine, University of Colombo,
Sri Lanka.

Correspondence to:
Dr. M.V.C. de Silva,
117, Uyana Road, Lunawa, Moratuwa,
Sri Lanka.
E-mail: [email protected]

 

1. Kumar S, Bhat RV, Bhat BV. Autosomal recessive polycystic kidney disease with congenital hepatic fibrosis and encephalocele. Indian Pediatr 2001; 38: 292-293.

2. Rushton DI. Liver and gall bladder. In: Fetal and neonatal Pathology, 2nd edn. Ed. Keeling JW. London, Springer-Verlag, 1993; pp 389-390.

3. Jones KL. Smith’s Recognizable Patterns of Human Malformation, 4th edn. Philadelphia, W.B. Saunders Co, 1988; p 152.

4. Cincinnati P, Nerri Me, Valentini A. Dandy walker anomaly in Meckel - Gruber Syndrome. Clin Dysmorphol 2000; 9: 35-38.

5. Keeling JW, Boyd PA. Congenital malformations, prenatal diagnosis and fetal examination. In: Fetal and Neonatal Pathology, 2nd edn. Ed. Keeling JW. London, Springer-Verlag, 1993; pp 136-139.