Peroxisomal disorder-unusual presentation as failure to thrive in early infancy

Failure to thrive is not uncommon in paediatric practice and often leads to multiple investigations to find the underlying cause. We report an infant who presented mainly with mild dysmorphism, failure to thrive and elevated alanine transferase (ALT) in early infancy. She was diagnosed to have a peroxisomal biogenesis disorder on further investigation. Peroxisomal disorders represent a spectrum of conditions with absent or abnormal function of intra-cytoplasmic organelles called peroxisomes. Clinical presentation is quite varied, depending on both the type and severity. We describe the clinical presentation of this case, followed by a brief discussion on peroxisomal disorders.