Avoid common mistakes on your manuscript.
To the Editor: Infantile tremor syndrome (ITS) is characterized by pallor, delayed development, tremors, and sparse hypopigmented hair [1]. Glutaric aciduria (GA) Type 1 presents with dystonia, large head size, and neuroregression [2]. Here, we are reporting a rare phenotype of ITS presenting as GA Type 1.
A 15-mo-old boy presented with developmental delay, stiffness of limbs, and tremors in the last 15 d. The child attained sitting, cooing, and a social smile by 11 mo of age. In the last month, there was a loss of the above milestones. On examination, pallor, knuckle hyperpigmentation, hypopigmented hair, normal weight (12 kg) and head circumference (47 cm), spasticity, dystonia, and tremors were noted. On investigations, low hemoglobin (7.2 g/dL) with megaloblastic anemia, low (69.59 pg/mL) vitamin B12 (normal: 211–911), and increased (45 micromol/L) homocysteine (normal: 3–15) levels were noted. MRI of the brain showed T2W hyperintensities in bilateral globus pallidus, white matter, and cerebral peduncles. On diffusion-weighted imaging, sections restricted diffusion was observed in bilateral globus pallidus and cerebral peduncles with a signal loss on apparent diffusion coefficient. Arterial blood gas, tandem mass spectrometry, gas chromatography/mass spectrometry, and exome sequencing (Supplementary Table S1 shows genes tested) were normal. Treatment with vitamin B12, was done initially intravenous 1000 µg/d (14 d) followed by intramuscular on alternate days (4 wk), and oral (6 mo). One month after treatment, the child attained new milestones, and his B12 increased (1250 pg/mL), and homocysteine level normalized (11 micromol/L).
This child had a batwing sign, prominent sylvian fissure with symmetric signal changes in basal ganglia mimicking as GA Type 1. The points that favored ITS were normal head size, skin and hair changes, and low vitamin B12 levels. The differentiation of both the conditions is important as GA Type 1 is a chronic disorder whose management is strict diet restriction as compared to ITS which requires a high protein, vitamin B12–rich diet, which comes predominantly from a nonvegetarian diet.
References
Gowda VK, Kolli V, Benakappa A, Srinivasan VM, Shivappa SK, Benakappa N. Case series of infantile tremor syndrome in tertiary care paediatric centre from Southern India. J Trop Pediatr. 2018;64:284–8.
Barić I, Zschocke J, Christensen E, et al. Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis. 1998;21:326–40.
Author information
Authors and Affiliations
Corresponding author
Ethics declarations
Conflict of Interest
None.
Additional information
Publisher's Note
Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.
Supplementary Information
Below is the link to the electronic supplementary material.
Rights and permissions
About this article
Cite this article
Gowda, V.K., Reddy, V., Srinivasan, V.M. et al. Infantile Tremor Syndrome Masquerading as Glutaric Aciduria Type 1. Indian J Pediatr 89, 625 (2022). https://doi.org/10.1007/s12098-021-04067-y
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s12098-021-04067-y