A Rare Case Report of Neonate with RENI Syndrome

Gupta Anuradha, Belekar Neelam

Abstract: RENI syndrome (RENAL, ENDOCRINE, NEUROLOGIC, AND IMMUNE SYNDROME) is an autosomal recessive form of steroid-resistant nephrotic syndrome with multisystemic manifestations such as ichthyosis, acanthosis, adrenal insufficiency, immunodeficiency, and neurologic defects. It is caused by homozygous or compound heterozygous mutation in the SGPL1 gene causing Sphingosine Phosphate Lyase Insufficiency. We describe a case of full-term neonate who presented with generalized oedema, ichthyosis and multiple orofacial abnormalities since birth which was followed by respiratory distress, feed intolerance, congenital nephrotic syndrome, congenital hypothyroidism and refractory convulsions and eventually refractory shock, all leading to death of the patient. He was diagnosed to be suffering from RENI syndrome through clinical exome sequencing.

Keywords: Renal, Endocrine, Neurologic and Immune (RENI), Sphingosine Phosphate Lyase (SPL), Steroid resistant nephrotic syndrome (SRNS), Primary adrenal insufficiency (PAI), Ichthyosis