Case Description
We describe the case of a generally healthy boy who, since the age of 3 to 4 months, presented with a history of right‐arm abduction and forearm pronation and fisting, several times per day, especially while crying, during rest, or while let by himself on his baby stroller. No abnormal postures were observed during sleep. He was initially examined at the age of 7 months (see Video 1), when his paroxysmal movements had already reduced in frequency, while he had progressively used both his hands for volitional movements (see Video 1).
His personal and familial history were unremarkable, and the neurological examination and psychomotor development were completely normal. During the last follow‐up, at 1 year of age, the boy was able to walk with support and to pronounce his first words, and no abnormal postures were noticeable.
Questions
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1
What is your diagnosis?
Spasmus nutans
Transient idiopathic dystonia of infancy (TIDI)
Primary genetic dystonia
Progressive dystonia resulting from an underlying metabolic/neurodegenerative etiology
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2
What is the core feature of this condition?
Onset after 1 year of age
Abnormal neuropsychomotor development
Symptoms fluctuation that disappears when the child does voluntary movements
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3
What are the possible differential diagnoses for this presentation?
Progressive dystonia
Brachial plexus injury
Cerebral palsy (infantile hemiplegia)
Orthopedic abnormalities
All of them
Answers
1: b. TIDI is a disorder characterized by segmental dystonia, both intermittent or persistent usually of one upper extremity.1, 2 Typical onset is earlier than 5 months of age, and it usually resolves by 1 year of age; neuropsychomotor development is normal.3
2: c. Dystonic postures disappear when the child does voluntary movements, and this is a main feature. More commonly, it affects the upper limb,4 but dystonic postures of the head and neck or lower limb have been described.
3: e. TIDI's differential diagnosis included nonbenign conditions, such as progressive dystonia, brachial plexus injury, cerebral palsy, and orthopedic abnormalities. The differential diagnosis was based on the history, symptoms fluctuation, and neurological examination. In TIDI, the anomaly posture typically does not interfere with function.5
Author Roles
(1) Clinical Project: A. Conception; B. Execution; (2) Clinical Assessment and Data; (3) Manuscript: A. Writing of the First Draft; B. Review and Critique.
C.D.: 1B, 3A
F.S.: 1C
C.C.: 1A, 3B
Disclosures
Funding Sources and Conflicts of Interest: The authors report no sources of funding and no conflicts of interest.
Financial Disclosures for previous 12 months: The authors declare that there are no disclosures to report.
Supporting information
A video accompanying this article is available in the supporting information here.
Video 1. Dystonic posture while the boy is having a bath in the swimming pool and while he is by his own in his baby stroller. In the second part, the boy is concentrated in objects manipulation and his movements are perfectly normal and symmetric; no dystonic postures are noticeable.
Relevant disclosures and conflicts of interest are listed at the end of this article.
References
- 1. Alvarez EF. Transient movement disorders in children. J Neurol 1998;245:1–5. [DOI] [PubMed] [Google Scholar]
- 2. Alvarez EF, Aicardi J. Movement Disorders in Children (International Review of Child Neurology Series). London: MacKeith; 2001:90–93. [Google Scholar]
- 3. Willemse J. Benign idiopathic dystonia with onset in the first year of life. Dev Med Child Neurol 1986;28:355–363. [DOI] [PubMed] [Google Scholar]
- 4. Calado R, Monteiro JP, Fonseca MJ. Transient idiopathic dystonia in infancy. Acta Pediatr 2010;100:624–627. [DOI] [PubMed] [Google Scholar]
- 5. Deonna TW, Ziegler AL, Nielsen J. Transient idiopathic dystonia in infancy. Neuropediatrics 1991;22:220–224. [DOI] [PubMed] [Google Scholar]
Associated Data
This section collects any data citations, data availability statements, or supplementary materials included in this article.
Supplementary Materials
A video accompanying this article is available in the supporting information here.
Video 1. Dystonic posture while the boy is having a bath in the swimming pool and while he is by his own in his baby stroller. In the second part, the boy is concentrated in objects manipulation and his movements are perfectly normal and symmetric; no dystonic postures are noticeable.