Transient idiopathic dystonia in infancy.
Summary of "Transient idiopathic dystonia in infancy."
Aim:â€‚ Review of transient idiopathic dystonia cases in order to improve knowledge on this entity, in relation to frequency, characterization and evolution. Methods:â€‚ Retrospective review and characterization of clinical cases seen in Pediatric Neurology Consultation, diagnosed with transient idiopathic dystonia, between February 2001 and June 2009, using clinical files complemented with photographic records and updated information through the physician. Results:â€‚ 13 infants who were referred to the Pediatric Neurology Consultation over a period of eight years, for asymmetric tone, posture and movements of the upper limb with onset before six months, with spontaneous favorable evolution and disappearance without sequelae, although the reason for referral was, in most cases, the suspicion of a hemiplegic cerebral palsy. Conclusion:â€‚ Transient changes of tone, posture and movement can be observed during the first months of life. Differential diagnosis is extensive and complex, based on a careful history and neurological examination. Distinction between neurological, neuromuscular and orthopedic pathology is difficult, particularly at the onset of clinical manifestations. â€¨The cases presented are similar to those previously reported by Willemse and Deonna, classified as transient idiopathic dystonia of childhood. Pathophysiology is unknown, some findings support a genetic susceptibility to functional imbalance in brain neurotransmitters and synaptogenesis.
Hospital do EspÃrito Santo, Ã‰vora -EPE Hospital Garcia de Orta, Almada Hospital Garcia de Orta, Almada.
This article was published in the following journal.
Name: Acta paediatrica (Oslo, Norway : 1992)
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21126264
- DOI: http://dx.doi.org/10.1111/j.1651-2227.2010.02109.x
Medical and Biotech [MESH] Definitions
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Acquired and inherited conditions that feature DYSTONIA as a primary manifestation of disease. These disorders are generally divided into generalized dystonias (e.g., dystonia musculorum deformans) and focal dystonias (e.g., writer's cramp). They are also classified by patterns of inheritance and by age of onset.
An attitude or posture due to the co-contraction of agonists and antagonist muscles in one region of the body. It most often affects the large axial muscles of the trunk and limb girdles. Conditions which feature persistent or recurrent episodes of dystonia as a primary manifestation of disease are referred to as DYSTONIC DISORDERS. (Adams et al., Principles of Neurology, 6th ed, p77)
Dystonia Musculorum Deformans
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
Vasculitis, Central Nervous System
Inflammation of blood vessels within the central nervous system. Primary vasculitis is usually caused by autoimmune or idiopathic factors, while secondary vasculitis is caused by existing disease process. Clinical manifestations are highly variable but include HEADACHE; SEIZURES; behavioral alterations; INTRACRANIAL HEMORRHAGES; TRANSIENT ISCHEMIC ATTACK; and BRAIN INFARCTION. (From Adams et al., Principles of Neurology, 6th ed, pp856-61)
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