Introduction:Infantile-onset saccade initiation delay (ISID), also known as congenital ocular motor apraxia, is characterized by the inability to initiate volitional horizontal saccades. Other abnormalities including developmental delay and ataxia have been reported. The frequency of these abnormalities is unknown. We performed a detailed review of the medical literature to quantify features of ISID.Methods:We searched the English medical literature for articles related to ISID from 1952 to 2010. Whenever possible, patients were excluded if they had acquired SID, Joubert syndrome or neurodegenerative conditions. The minimum prevalence was calculated for each abnormality.Results:Sixty-six articles with information on 288 patients were included in the analysis. Head thrusts were reported in 84.7%. Blinks without head thrusts were used to initiate saccades in 41%. The fast phases of the optokinetic response and vestibulo-ocular reflex were impaired in 69.8% and 34.4% respectively. Smooth ocular pursuit was abnormal in 33%. Global developmental delay occurred in 41.3%, speech or language delay in 36.5%, cognitive delay in 17%, hypotonia in 35.8%, motor delay in 48.6%, and ataxia/clumsiness in 49.3% of patients. Neuroimaging was performed on 197 patients and was normal in 39.1%. Abnormalities involved the cerebellum (24.9%), cerebrum (15.7%), other infratentorial structures (11.7%), and corpus callosum (6.1%).Conclusions:Infantile-onset saccade initiation delay is frequently associated with deficits in reflexive saccades and less frequently with impaired smooth ocular pursuit. Developmental delay, hypotonia, and ataxia occur frequently in ISID, suggesting more global brain impairment and not just a saccadic disorder.
Hemimegalencephaly (HME) is a rare disorder of cortical development with overgrowth of one cerebral hemisphere. Patients have intellectual delay, hemiparesis and severe epilepsy. Drug-resistant epilepsy is often treated with a hemispherectomy. We review the literature on HME natural history and report a 26-year-old man with HME who did not undergo hemispherectomy in childhood with recurrent focal convulsive or non-convulsive status epilepticus.Few patients with HME have been followed into adulthood. Reported adult cases have milder epilepsy or underwent hemispherectomy in childhood. Patients surviving to adulthood have poor outcomes, regardless of treatment method, although seizure burden is improved with hemispherectomy.
Hippocampal signal changes were associated with isoflurane use in patients with RSE. They were also associated with number of seizure days prior to MRI and the use of multiple anesthetic agents. Similar changes have been seen as a result of RSE itself, and one cannot rule out the possibility these changes represent seizure-related effects. If isoflurane-related, these hippocampal signal changes may be the result of a direct neurotoxic effect of prolonged isoflurane use or failure of isoflurane to protect the hippocampus from seizure-induced injury despite achieving electrographic burst-suppression.
Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating disease that typically has a relapsing and remitting course at onset. Disability can accumulate quickly if relapses are severe and recovery is incomplete, but any relapse may result in accumulation of disability.1 Tumefactive MS is a particularly aggressive form, characterized by large (>2 cm), tumor-like demyelinating lesions seen on magnetic resonance imaging (MRI).2 These lesions may occur as solitary or multiple lesions.
2Standard treatment for MS relapses consists of highdose corticosteroids; however, this treatment may not be effective for these severe relapses, and additional treatment options in these situations should be explored. Plasma exchange (PLEX) is beneficial in severe, corticosteroid-resistant relapses of MS and neuromyelitis optica (NMO); however, there are few reports of its use in tumefactive MS. [2][3][4] We describe a fulminant course of MS with multiple tumefactive lesions treated with PLEX.
Case ReportA 46-year-old right-handed woman was referred to our tertiary-care center for continued management of a severe MS relapse. She had recently been diagnosed as having relapsing-remitting MS (RRMS) based on two relapses in the preceding 10 months, as well as CASE REPORT
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