A 14 month old with delayed milestones and tremors

Dr Ira Shah

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A 14 month old with delayed milestones and tremors

Dr Ira Shah.

Medical Sciences Department, Pediatric Oncall, Mumbai, India.

ADDRESS FOR CORRESPONDENCE
Dr Ira Shah, Medical Sciences Department, Pediatric Oncall, 1, B Saguna, 271, B St. Francis Road, Vile Parle {W}, Mumbai 400056.

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Clinical Problem
Case Report: A 14 month old boy born of non-consanguineous marriage presented with delayed milestones, excessive sleepiness since 7-8 months, hyperpigmentation of fingers and toes since 3-4 months and tremors since 3-4 months.

Milestones achieved
• Head holding at 4 months of age
• Rolling over at 7-8 months of age
• Sitting with support at 6-7 months of age
• Transfer of object – 6 months of age
• Sitting without support at 7-8 months of age.

The child had not achieved any speech and is not able to stand. His birth was uneventful and there were no antenatal or postnatal problems. For the above complaints, the child was shown to a private practitioner 15 days back. He was started on high dose multivitamins following which his sleep had decreased and tremors have subsided. He was immunized till date and he is on exclusive breast-feeds. Mother is a vegetarian. There is no significant family history.
On examination, he had blond hair with pallor and frontoparietal bossing. There were hyperpigmented knuckles and toes. Other general and systemic examination findings are normal.

His investigations reveal:
- Hemoglobin = 8.1 gm/dl
- WBC count = 16,000/cumm
- Reticulocyte count = 2%
- Peripheral smear = Hypersegmented polymorphs.
- MCV = 87 μ3, MCHC= 21.4 pg, MCHC = 24.5 gm/dl.

What is the diagnosis?

Discussion
Dr Ira Shah:

This child presented with delay in milestones after 7 months of age and tremors and excessive sleepiness around the same time. He is only on breast-feeding and mother is a vegetarian. He has hyperpigmented knuckles and toes suggestive that most likely he has infantile tremor syndrome due to vitamin B12 deficiency. B12 deficiency is especially seen in children who are exclusively breast feed and mothers have a pure vegetarian diet. His peripheral smear also shows hypersegmented polymorphs which is also seen in vitamin B12 deficiency. The most important aspect in the history is improvement in his symptoms following treatment with high dose multivitamins. This would have supplemented the vitamin B12 and reversed his symptoms. This could also explain the normal MCV in this child inspite of having a low hemoglobin.
Thus, this child has a resolving infantile tremor syndrome. A vitamin B12 levels in the serum of both the mother and the child before treatment commences would be useful to check for vitamin B12 levels. Treatment of ITS in this child would require high doses of vitamin B12 to both mother and child with adequate weaning and modification of the mother’s diet.

Compliance with ethical standards

Funding: None

Conflict of Interest: None

Cite this article as:
Shah I. A 14 month old with delayed milestones and tremors. Pediatr Oncall J. 2006;3: 65.