torticollis/癲癇性発作

BACKGROUND In children, neuroborreliosis often manifests itself as cranial neuritis (particularly facial palsy) or aseptic meningitis. Presentation with torticollis and simple partial seizures resulting from diffuse leptomeningeal inflammation is rare. METHODS A seven-year-old boy who had developed

Spasmodic torticollis, once thought to be psychogenic, is now recognized as an extrapyramidal movement disorder. A patient with onset of classical torticollis after closed head injury and intracranial hypertension is described. The patient had no clinical or radiologic evidence of brain stem

Benign paroxysmal torticollis is probably an under-diagnosed condition of infancy. It is a self-limiting disorder characterised by periods of unusual, sustained posture of the head and neck, during which the head tilts to one side. Episodes are often accompanied by marked autonomic features,

A case of Sandifer syndrome is presented. It is similar to previously reported cases. The diagnosis may be overlooked if symptoms are mild. Neurologic disorders are often suspected. Infants or children with torticollis, dystonic posturing or atypical seizures should be evaluated for Sandifer

We present four children with benign paroxysmal torticollis (BPT) and a review of the literature. BPT appears to be a self-limited disorder that occurs predominantly in females. The attacks of head tilting usually start in infancy, may recur at varying intervals until the age of 1 to 5 years, and

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe

PRRT2 is the gene recently associated with paroxysmal kinesigenic dyskinesia (PKD), benign familial infantile epilepsy, and choreoathetosis infantile convulsions. We report four family members with PRRT2 mutations who had heterogeneous paroxysmal disorders. The index patient had transient infantile

Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal-dominant neurodegenerative disease characterized by variable clinical phenotypes. Its characteristic clinical manifestations include ataxia, choreoathetotic movements, seizures, myoclonus and dementia, but cervical dystonia

An infant with congenital torticollis underwent chiropractic manipulation, and within a few hours had respiratory insufficiency, seizures, and quadriplegia. A holocord astrocytoma, with extensive acute necrosis believed to be a result of the neck manipulation, was found and resected. We believe that

New genetic techniques have made it possible to better understand the implications of the PRRT2 gene (proline rich transmembrane protein 2) in various neurological disorders. Mutations within this gene are responsible for kinesigenic paroxysmal dyskinesias (PKD) as well as for benign familial

Torticollis can be either congenital or acquired. Acquired torticollis is often the manifestation of an underlying central nervous system disorder. Acute painless torticollis should always raise suspicion of a posterior fossa tumor. Acute disseminated encephalomyelitis is an inflammatory

Lithium has been put to clinical trials in no less than fifteen neurological disorders. They are Huntington's chorea, tardive dyskinesia, spasmodic torticollis, Tourette's syndrome, L-dopa induced hyperkinesia and the "on-off" phenomenon in parkinsonism, organic brain disorders secondary to