Clinical, Laboratory and Neuroimaging Profile of Children with Infantile Tremor Syndrome at a Tertiary Care Center

Abstract

Introduction: Infantile tremor syndrome (ITS) is characterized by coarse tremors, anemia, pigmentary skin changes, regression of developmental milestones, muscle hypotonia and multiple micronutrient deficiencies. We studied clinical, laboratory and  Neuroimaging profile of children with ITS. Material and methods: This hospital-based prospective observational study was conducted in the Dept. of Pediatrics, SMS Medical College, Jaipur, Rajasthan. Fifty cases of pre-ITS or ITS, 4 months to 3 years of age, admitted in the department were included in the study and assessed at the time of admission in hospital and at follow-up after 3 months of discharge with detailed clinical, hematological and neuroimaging examination. Results: We noted a female preponderance. About 96% children were from rural background, 88% from poor socioeconomic status and 12% children were from lower middle socioeconomic status. Eighteen (36%) children presented with leukocytosis. Only 24 (48%) children had normal serum iron level, and 24 (48%) children had normal serum vitamin B12 at presentation. Six (12%) children had decreased level of serum folate (<3 ng/dL). All the parameters improved at follow-up after 3 months. Magnetic resonance imaging (MRI) brain was normal in 10% children, while MRI brain in 32 (64%) children revealed cortical atrophy. In 24 (92% of 26) follow-up MRI brain, 17 (70%) MRIs showed normal findings when compared with previous MRI done on admission but 7 MRIs out of 24 showed improvement on follow-up, compared to the MRI done on admission; however, changes in MRI were still seen and had not completely resolved. Conclusions: The encouraging results of nutritional rehabilitation suggest that supplementing mother with vitamin B12 during pregnancy or fortifying complementary feeds with vitamin B12 may be considered. As the infants with vitamin B12 deficiency show neuroregression and features similar to ITS and the fact that vitamin B12 is involved in evolution of DNA and myelinating changes, vitamin B12 deficiency may be implicated as etiology.