A rare case of spinomuscular atrophy masquerading neonatal encephalopathy in a newborn

Abstract

Spinomuscular atrophy is a rare type of inherited neuromuscular disorder of degeneration of alfa cells of the anterior horn. The presentation and prognosis of disease vary depending upon the type, age of presentation and severity of the disease. Here we are presenting a case of a male baby who presented with lethargy, poor feeding, respiratory distress and seizures. On examination the child was sick looking, tachypnoeic, with Downe’s score of 7, with bilateral crypts with hypotonia and having seizures. The laboratory parameters showed thrombocytopenia, leucopenia, hypoglycaemia with normal serum levels of creatine phosphokinase. The septic screening was suggestive of sepsis. The amplitude integrated EEG showed abnormal pattern. The tandem mass spectroscopy for Inborn error of metabolism screening was normal. The neurosonography and MRI brain showed no abnormalities. The baby developed respiratory muscle weakness, hypotonia, bulbar palsy, areflexia and characteristic eyelid and tongue fasciculations subsequently as diseases progressed which required oxygen and respiratory support for prolonged duration. The gene study confirmed the deletion of exons 7 and 8. Sibling and parental screening were advised and the baby was managed with supportive care and referred to a higher centre for further advanced treatment. The knowledge and varying presentations of this illness are important for the treating doctors from the prognostic point of view