Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)
نویسندگان
چکیده
A recent article from Pavone et al. published in the Italian Journal of Pediatrics entitled «Ataxia in children: early recognition and clinical evaluation» made an exhaustive overview of the large spectrum of pediatric ataxias. However, we would underline the importance of considering hereditary ataxia due to isolated vitamin E deficiency as a specific and treatable cause of child ataxia. We present a short clinical and therpeutic synopsis of this peculiar genetic etiology, frequently encountred in the mediterranean region.
منابع مشابه
More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes
BACKGROUND The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia. Hyperkinetic movement disorders occur in a significant proportion of patients, and may sometimes be the presenting motor symptom. Presentations with involuntary movements rather than ataxia are diagnostically challenging, an...
متن کاملIsolated vitamin E deficiency and progressive ataxia.
A case of progressive spinocerebellar syndrome due to isolated vitamin E deficiency is reported. Measurement of the vitamin E concentration in serum should be included when investigating all children with unexplained, progressive ataxia, even in the absence of malabsorption. Replacement treatment in patients with a vitamin E deficiency can arrest or improve the associated neurological disorder.
متن کاملAtaxia in children: early recognition and clinical evaluation
BACKGROUND Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance. It is mainly caused by dysfunction of the complex circuitry connecting the basal ganglia, cerebellum and cerebral cortex. A careful history, physical examination and some characteristic maneuvers are useful for the diagnosis of ataxia. Som...
متن کاملAtaxias of childhood.
BACKGROUND This review examines the causes of ataxias in children. It is a relatively common manifestation of neurological diseases in children. The etiology of ataxia covers a broad range, from infections to rare hereditary metabolic diseases. A systematic approach is required to make the correct diagnosis. REVIEW SUMMARY The more common causes of ataxias in children are discussed in detail....
متن کاملAtaxia with Vitamin E Deficiency in Norway
OBJECTIVE Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy. METHODS We made an inquiry to our colleagues in Norway, we incl...
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عنوان ژورنال:
دوره 43 شماره
صفحات -
تاریخ انتشار 2017