We report a case of relapsing-remitting opsoclonus-myoclonus-ataxia syndrome (OMAS) in a patient with Hashimoto's encephalopathy, diagnosed after comprehensive evaluation. OMAS as a manifestation of Hashimoto's encephalopathy has been reported once previously. It is hoped that recognition of this entity and early initiation of immunotherapy will improve clinical outcomes for patients.
Out of a group of 12 M. nemestrina (originating from Malaysia), 9 adults had shown clinical signs induced by ILS at 25 c/sec. Six of them (3 males, 3 females) were very photosensitive; however, only 2 presented eyelid and/or head jerks after the end of ILS (level 4), but never a generalized seizure. Tactile periorbital stimuli favoured myoclonus. In all but the two of level 4, the intensity of clinical signs varied from one day to the next. In all implanted adult macaques, spontaneous paroxysmal EEG activities were seen during slow sleep in mostly anterior areas, but also during waking and REM sleep in some of them; however, their occurrence depended upon the individual and were not in all cases related to their level of photosensitivity. During ILS, paroxysmal discharges (spikes and waves and/or polyspikes and waves), isolated or in bursts at 3-4/sec were bilateral and symmetrical. They started in fronto-rolandic regions, then became generalized. This observation constitutes a new fact since the discovery, in 1966, of the photomyoclonic syndrome of Papio papio, Macaca nemestrina being another species of subhuman primates with a marked predisposition to photosensitive epilepsy.
Jeavons syndrome (JS) is one of the underreported epileptic syndromes and is characterized by eyelid myoclonia (EM), eye closure-induced seizures or electroencephalography (EEG) paroxysms, and photosensitivity. In the Western populations, it has been reported to be characterized by focal posterior, occipital predominant epileptiform discharges (OPEDs) or frontal predominant epileptiform discharges (FPEDs) followed by generalized EDs in both interictal and ictal EEG recordings. However, it is not clear if there are different clinical manifestations between OPEDs and FPEDs. The clinical and electrographic presentations in the Chinese population are largely unknown. Here, we report the clinical and electroencephalographic features of 50 Chinese patients with JS and evaluate for the presence of different clinical features between patients with OPEDs and patients with FPEDs.
Lance-Adams syndrome (LAS) is chronic post-hypoxic myoclonus that is often associated with sudden lapses in muscle tone (negative myoclonus) in the legs, causing a disabling "bouncy gait." Given its relative rarity, there are no controlled treatment studies of LAS. The majority of cases require polypharmacy management, with an incomplete response. "Bouncy gait," in particular, is notoriously medication-refractory. Here, we report a patient with long-standing LAS who improved markedly when low-dose perampanel was added to his existing treatment regime consisting of clonazepam, levetiracetam, sodium valproate, and acetazolamide.
We report a case of drug-induced myoclonus possibly related to palonosetron, a second-generation 5-hydroxytryptamine-3 receptor antagonist which was administered as a prophylaxis for postoperative nausea and vomiting in a 28-year-old female. The recurrent episodes of myoclonus jerk involving the head, neck and shoulder persisted for a period of 4 days. The patient also exhibited an episode of severe bradycardia leading to hypotension 7 h after surgery. To our knowledge, this is the first report presenting these adverse events potentially associated with the use of palonosetron.
A 72-year old Englishman was admitted with rapid deterioration in cognitive function, gait disturbance, and cerebellar signs and lapsed into a coma within one week of admission to the hospital. He had long-standing hypertension and hypercholesterolaemia, for which he was on regular medication. He had suffered recurrent episodes of stroke between September 1997 and May 2001. Three months prior to presentation, he became forgetful and generally mentally slow, affecting his daily activities. He was also noted to have fluctuations in his conscious level, associated with myoclonic jerks of the limbs. The brain MRI revealed hyperintense lesions on T2- weighted images in the periventricular region, left corona radiata, centrum semiovale, pons, midbrain and right thalamus. The electroencephalograph revealed periodic sharp wave complexes, strongly suggestive of Creutzfeldt-Jakob disease. However, we were not able to get a tissue diagnosis or send the cerebrospinal fluid for protein 14-3-3.
OBJECTIVE:
To describe and provide audiovisual documentation of a syndrome of polymyoclonus, laryngospasm, and cerebellar ataxia associated with adenocarcinoma and multiple neural cation channel autoantibodies.
DESIGN:
Case report with video.
SETTING:
University hospitals. Patient A 69-year-old woman presented with subacute onset of whole-body tremulousness and laryngospasm attributed to gastroesophageal reflux.
RESULTS:
Further evaluation revealed polymyoclonus, cerebellar ataxia, and laryngospasm suspicious of an underlying malignant neoplasm. Surface electromyography of multiple limb muscles confirmed the presence of polymyoclonus. The patient was seropositive for P/Q-type voltage-gated calcium channel antibody; subsequently, whole-body fluorine 18 fluorodeoxyglucose positron emission tomography and cervical lymph node biopsy revealed widespread metastatic adenocarcinoma. Follow-up serologic evaluation revealed calcium channel antibodies (P/Q type and N type) and potassium channel antibody.
CONCLUSIONS:
We highlight the importance of recognizing polymyoclonus. To our knowledge, this is also the first description of a syndrome of polymyoclonus, laryngospasm, and ataxia associated with adenocarcinoma and these cation channel antibodies.
Most cases of adenylosuccinate lyase (ADSL OMIM 103050) deficiency reported to date are confined to the various European ethnic groups. We report on the first Malaysian case of ADSL deficiency, which appears also to be the first reported Asian case. The case was diagnosed among a cohort of 450 patients with clinical features of psychomotor retardation, global developmental delay, seizures, microcephaly and/or autistic behaviour. The patient presented with frequent convulsions and severe myoclonic jerk within the first few days of life and severe psychomotor retardation. The high performance liquid chromatography (HPLC) profile of the urine revealed the characteristic biochemical markers of succinyladenosine (S-Ado) and succinyl-aminoimidazole carboximide riboside (SAICAr). The urinary S-Ado/SAICAr ratio was found to be 1.02 (type I ADSL deficiency). The patient was compound heterozygous for two novel mutations, c.445C > G (p.R149G) and c.774_778insG (p.A260GfsX24).