Hyperpigmentary disorders are commonly encountered group of dermatoses in the paediatric age group. One of the most common causes of progressive generalised hyperpigmentation in paediatric population is nutritional vitamin B12 deficiency (NVBD). NVBD can present with a bunch of signs and symptoms like skin hyperpigmentation, pallor and regression of neurodevelopment. We report a case of a plump looking 13 months old, girl child from non-consanguineous marriage of low socioeconomic family who presented with generalised hyperpigmentation, failure to thrive and regression of mile stones. Physical examination revealed anaemia and sparse, thin, lustreless hair with dull, apathetic look. A differential diagnosis of Addison’s disease, hypothyroidism, and neurodegenerative disease, was considered based on clinical suspicion. She was further investigated by a paediatrician. Her blood investigations revealed low levels of Vitamin B12 (159 pg/dl) and haemoglobin (2.6 g/dl). On radiological examination, NCCT brain showed cortical atrophy. A final diagnosis of Infantile Tremor Syndrome (ITS) was made. ITS is a rare condition which presents with cutaneous manifestation like hyperpigmentation, scanty scalp hair along with lethargy, apathy along with signs and symptoms of neurodegeneration. Progressive cutaneous hyperpigmentation in a child can present as early marker of a rare neurodegenerative condition like ITS.
| Published in | American Journal of Pediatrics (Volume 7, Issue 3) |
| DOI | 10.11648/j.ajp.20210703.25 |
| Page(s) | 170-173 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2024. Published by Science Publishing Group |
Infantile Tremor Syndrome, Neurodegenerative Disease, Addison’s Disease, Hypothyroidism, Inborn Error of Metabolism
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APA Style
Shivi Nijhawan, Anviti Gupta, Manisha Nijhawan, Divya Yadav, Madhu Mathur. (2021). Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome. American Journal of Pediatrics, 7(3), 170-173. https://doi.org/10.11648/j.ajp.20210703.25
ACS Style
Shivi Nijhawan; Anviti Gupta; Manisha Nijhawan; Divya Yadav; Madhu Mathur. Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome. Am. J. Pediatr. 2021, 7(3), 170-173. doi: 10.11648/j.ajp.20210703.25
AMA Style
Shivi Nijhawan, Anviti Gupta, Manisha Nijhawan, Divya Yadav, Madhu Mathur. Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome. Am J Pediatr. 2021;7(3):170-173. doi: 10.11648/j.ajp.20210703.25
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Download@article{10.11648/j.ajp.20210703.25,
author = {Shivi Nijhawan and Anviti Gupta and Manisha Nijhawan and Divya Yadav and Madhu Mathur},
title = {Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome},
journal = {American Journal of Pediatrics},
volume = {7},
number = {3},
pages = {170-173},
doi = {10.11648/j.ajp.20210703.25},
url = {https://doi.org/10.11648/j.ajp.20210703.25},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ajp.20210703.25},
abstract = {Hyperpigmentary disorders are commonly encountered group of dermatoses in the paediatric age group. One of the most common causes of progressive generalised hyperpigmentation in paediatric population is nutritional vitamin B12 deficiency (NVBD). NVBD can present with a bunch of signs and symptoms like skin hyperpigmentation, pallor and regression of neurodevelopment. We report a case of a plump looking 13 months old, girl child from non-consanguineous marriage of low socioeconomic family who presented with generalised hyperpigmentation, failure to thrive and regression of mile stones. Physical examination revealed anaemia and sparse, thin, lustreless hair with dull, apathetic look. A differential diagnosis of Addison’s disease, hypothyroidism, and neurodegenerative disease, was considered based on clinical suspicion. She was further investigated by a paediatrician. Her blood investigations revealed low levels of Vitamin B12 (159 pg/dl) and haemoglobin (2.6 g/dl). On radiological examination, NCCT brain showed cortical atrophy. A final diagnosis of Infantile Tremor Syndrome (ITS) was made. ITS is a rare condition which presents with cutaneous manifestation like hyperpigmentation, scanty scalp hair along with lethargy, apathy along with signs and symptoms of neurodegeneration. Progressive cutaneous hyperpigmentation in a child can present as early marker of a rare neurodegenerative condition like ITS.},
year = {2021}
}
TY - JOUR T1 - Progressive Hyperpigmentation in a Child: An Early Marker of Infantile Tremor Syndrome AU - Shivi Nijhawan AU - Anviti Gupta AU - Manisha Nijhawan AU - Divya Yadav AU - Madhu Mathur Y1 - 2021/09/04 PY - 2021 N1 - https://doi.org/10.11648/j.ajp.20210703.25 DO - 10.11648/j.ajp.20210703.25 T2 - American Journal of Pediatrics JF - American Journal of Pediatrics JO - American Journal of Pediatrics SP - 170 EP - 173 PB - Science Publishing Group SN - 2472-0909 UR - https://doi.org/10.11648/j.ajp.20210703.25 AB - Hyperpigmentary disorders are commonly encountered group of dermatoses in the paediatric age group. One of the most common causes of progressive generalised hyperpigmentation in paediatric population is nutritional vitamin B12 deficiency (NVBD). NVBD can present with a bunch of signs and symptoms like skin hyperpigmentation, pallor and regression of neurodevelopment. We report a case of a plump looking 13 months old, girl child from non-consanguineous marriage of low socioeconomic family who presented with generalised hyperpigmentation, failure to thrive and regression of mile stones. Physical examination revealed anaemia and sparse, thin, lustreless hair with dull, apathetic look. A differential diagnosis of Addison’s disease, hypothyroidism, and neurodegenerative disease, was considered based on clinical suspicion. She was further investigated by a paediatrician. Her blood investigations revealed low levels of Vitamin B12 (159 pg/dl) and haemoglobin (2.6 g/dl). On radiological examination, NCCT brain showed cortical atrophy. A final diagnosis of Infantile Tremor Syndrome (ITS) was made. ITS is a rare condition which presents with cutaneous manifestation like hyperpigmentation, scanty scalp hair along with lethargy, apathy along with signs and symptoms of neurodegeneration. Progressive cutaneous hyperpigmentation in a child can present as early marker of a rare neurodegenerative condition like ITS. VL - 7 IS - 3 ER -
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