ESPN 50th Annual Meeting

ESPN 2017


 
A boy with congenital nephrotic syndrome associated with microcephaly and neurological abnormalities
TOMAS ROSIK 1 SEEMAN PAVEL 2 FENCL FILIP 1 KVETA BLAHOVA 1

1- UNIVERSITY HOSPITAL MOTOL, PRAGUE, DEPARTMENT OF PAEDIATRICS
2- UNIVERSITY HOSPITAL MOTOL, PRAGUE, DEPARTMENT OF PAEDIATRIC NEUROLOGY
 
Introduction:

 Congenital nephrotic syndrome (CNS) is defined as a nephrotic syndrome occurring before 3 months of age. As many as 85 percent of the cases have a genetic basis for the renal disease and a poor outcome. There are other sydromes where CNS is associated with microcephaly and neurologic symptoms, for example Galloway-Mowat Syndrome, Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, progressive encephalopathy-hypsarytmia-optic atrophy (PEHO) syndrome, primary coenzyme Q10 deficiency (COQ2 gene mutation) or carbohydrate-deficient glycoprotein (CDG) syndrome. The pontocerebellar hypoplasia (PCH) is characterised by prenatal development of an abnormally small cerebellum and brain stem, which is caused either by specific gene mutations or it is secondary associated to chromosomal abnormalities, neurodegenerative or neurometabolic disorders.

Material and methods:

A hypotrofic newborn with perinatal asfyxia, hypotonia, hyporeflexia, microcephaly and facial stigmatisation manifested with CNS in 45. day of life without any reaction to corticotherapy. Later the oedema disappeared, the level of albumine was more than 25 g/l but there was still nephrotic proteinuria. Brain MRI showed the pontocerebellar hypoplasia.

Results:

 Genetic testing for the most frequent causes of CNS (NPHS1, NPHS2 and WT1 gene) was negative. Regarding the clinical findings, COQ2 mutation, CDG syndrome and the mutations of genes for pontocerebellar hypoplasia were considered. The screening tests for COQ2 mutation and CDG syndrome proved negative. However, mutation in EXOSC3 gen which causes type 1B of pontocerebellar hypoplasia was confirmed. The boy died at the age of 5 months due to cardiopulmonary arrest during respiratory infection.

Conclusions:

 This case report shows the coincidence of CNS with PCH type 1B. The most frequent mutations causing CNS were excluded. COQ2 mutation and CDG syndrom as potential causes of CNS with neurologic abnormalities were excluded also.