Ataxia with Vitamin E Deficiency May Present with Cervical Dystonia
نویسندگان
چکیده
BACKGROUND Ataxia with vitamin E deficiency (AVED) is an autosomal recessive disorder that usually presents with ataxia, areflexia, and proprioceptive and vibratory sensory loss. Dystonia has been reported rarely. CASE REPORT An 11-year-old female presented with dystonic head tremor and cervical and bilateral arm dystonia. Her 14-year-old older brother had dystonic head tremor and generalized dystonia. One year later, the brother developed dysarthria, limb dysmetria, and gait ataxia. Compound heterozygous mutations in TTPA were detected, confirming the diagnosis of AVED. DISCUSSION AVED may present with dystonia rather than ataxia, and should be considered in the differential diagnosis of progressive dystonia.
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 کاملA Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich's Ataxia
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene. It is almost indistinguishable clinically from Friedreich's ataxia but with appropriate treatment its devastating neurological features can be prevented. Patients can present with a progressive cerebellar ataxia, pyramidal spasticit...
متن کاملMolecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency.
Ataxia with vitamin E deficiency is an autosomal recessive cerebellar ataxia caused by mutations in the α-tocopherol transfer protein coding gene localized on chromosome 8q, leading to lower levels of serum vitamin E. More than 91 patients diagnosed with ataxia with vitamin E deficiency have been reported worldwide. The majority of cases originated in the Mediterranean region, and the 744delA w...
متن کاملCopper deficiency myelopathy: A report of two cases.
CONTEXT Copper deficiency myelopathy represents an often underdiagnosed, acquired neurological syndrome, clinically characterized by posterior column dysfunction. The main causes of copper deficiency are bariatric surgery, increased consumption of zinc, and malabsorption. However, even after a careful history taking and extensive laboratory researches, the etiology of copper deficiency remains ...
متن کاملTHE CANADIAN JOuRNAL OF NEuROLOGICAL SCIENCES
Deficiency of Vitamin B12 can have many neurologic sequelae including periperhal neuropathy, visual disturbances, mood and memory changes and subacute combined degeneration (SCD) of the spinal cord1. Macrocytic anemia is also a common finding of B12 deficiency allowing the clinician to arrive at a diagnosis, however neurologic symptoms can be present even in the absence of hematologic changes. ...
متن کامل