ABSTRACT
Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later. Diagnosis is based on molecular genetic analysis for mutations of the aprataxin (APTX) gene (chromosome 9p13.1; ataxia with oculomotor apraxia 1). Ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. We describe two siblings, born to consanguineous parents, who had clinical features of cerebellar ataxia, tremor, dysarthria, oculomotor apraxia, and motor peripheral neuropathy. Brain magnetic resonance imaging showed cerebellar atrophy and mild brainstem atrophy. Electromyography showed signs of axonal neuropathy. The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1.
Subject(s)
Apraxias/complications , Apraxias/genetics , Ataxia/complications , Ataxia/genetics , Cognition Disorders/etiology , DNA-Binding Proteins/genetics , Nuclear Proteins/genetics , Adolescent , Age of Onset , Apraxias/psychology , Ataxia/psychology , Child , Cognition Disorders/genetics , Consanguinity , DNA Mutational Analysis , DNA Repair , Electromyography , Female , Humans , Male , Oculomotor Nerve Diseases/complications , Oculomotor Nerve Diseases/genetics , Oculomotor Nerve Diseases/psychology , Pedigree , Siblings , Zinc FingersABSTRACT
Headaches due to endocrine diseases in childhood are rare, but any child with chronic headaches should be given serious consideration. The most serious etiology is a tumor of the hypothalamic-pituitary region. Headaches can also occur as premenstrual migraine or as water retention due to glucocorticoid or Growth Hormone (GH) overdosage.
Subject(s)
Endocrine System Diseases/complications , Headache/etiology , Adolescent , Biomarkers/metabolism , Child , Endocrine System Diseases/metabolism , Headache/metabolism , Humans , Melatonin/metabolismABSTRACT
We report a case of orofacial dyskinesia in a 6-year-old female with attention-deficit-hyperactivity disorder who received a low dose of methylphenidate. The orofacial dyskinesia appeared immediately and subsided rapidly on the same day in an "on-off" fashion and on 3 separate days when methylphenidate was taken. To our knowledge this particular side effect has not been described previously and might represent an unusual type of brain response or sensitivity.
