Middle ear myoclonus tinnitus is an abnormal sound perceived by unusual contraction of the stapes muscle or tensor tympani muscle. The current diagnostic methods include medical history inquiry, physical examination and audiological tests. The diagnosis was confirmed by tympanic exploration of myoclonus. Etiological treatment is considered to be the first treatment of choice, supplemented by behavior therapy and pharmacotherapy. Surgery will be performed when conservative treatment fails. This article reviews the diagnosis and treatment of middle ear myoclonus tinnitus.
Humans ; Tinnitus/etiology* ; Ear, Middle ; Myoclonus/therapy* ; Tensor Tympani

Anticonvulsants ; therapeutic use ; Clonazepam ; therapeutic use ; Female ; Humans ; Levetiracetam ; therapeutic use ; MERRF Syndrome ; drug therapy ; Male ; Myoclonus ; drug therapy

Adult ; Anticonvulsants ; therapeutic use ; Brain ; drug effects ; pathology ; physiopathology ; Carbamazepine ; analogs & derivatives ; therapeutic use ; Electroencephalography ; Epilepsy, Frontal Lobe ; diagnosis ; drug therapy ; Female ; Humans ; Myoclonic Epilepsy, Juvenile ; diagnosis ; drug therapy ; Myoclonus ; diagnosis ; drug therapy

Glucose transport 1 (GLUT-1) deficiency is a rare syndrome caused by mutations in the glucose transporter 1 gene (SLC2A1) and is characterized by early-onset intractable epilepsy, delayed development, and movement disorder. De novo mutations and several hot spots in N34, G91, R126, R153, and R333 of exons 2, 3, 4, and 8 of SLC2A1 are associated with this condition. Seizures, one of the main clinical features of GLUT-1 deficiency, usually develop during infancy. Most patients experience brief and subtle myoclonic jerk and focal seizures that evolve into a mixture of different types of seizures, such as generalized tonic-clonic, absence, myoclonic, and complex partial seizures. Here, we describe the case of a patient with GLUT-1 deficiency who developed infantile spasms and showed delayed development at 6 months of age. She had intractable epilepsy despite receiving aggressive antiepileptic drug therapy, and underwent a metabolic workup. Cerebrospinal fluid (CSF) examination showed CSF-glucose-to-blood-glucose ratio of 0.38, with a normal lactate level. Bidirectional sequencing of SLC2A1 identified a missense mutation (c.1198C>T) at codon 400 (p.Arg400Cys) of exon 9.
Cerebrospinal Fluid ; Codon ; Drug Resistant Epilepsy ; Drug Therapy ; Exons* ; Glucose Transport Proteins, Facilitative ; Glucose Transporter Type 1 ; Glucose* ; Humans ; Infant ; Infant, Newborn ; Lactic Acid ; Movement Disorders ; Mutation, Missense ; Myoclonus ; Seizures ; Spasms, Infantile*

INTRODUCTIONChronic insomnia is associated with many physical and psychiatric illnesses, and its underlying aetiology needs to be identified in order to achieve safe and effective treatment. Obstructive sleep apnoea (OSA) and periodic limb movement disorder (PLMD) are common primary sleep disorders that can lead to chronic insomnia. Patients with these conditions are evaluated using polysomnography (PSG).

METHODSThe PSG records of 106 patients with chronic insomnia who presented to a multidisciplinary sleep clinic in Singapore over a five-year period were reviewed. To examine the utility of PSG in the evaluation of chronic insomnia, the clinical diagnoses of the patients before and after the sleep studies were compared.

RESULTSAmong the 106 patients, 69 (65.4%) were suspected to have primary sleep disorders based on clinical history and examination alone. Following PSG evaluation, 42.5% and 4.7% of the study population were diagnosed with OSA and PLMD, respectively. OSA was found in 35.9% of the 39 patients who had underlying psychiatric conditions.

CONCLUSIONThis study illustrates that many patients with chronic insomnia have underlying primary sleep disorders. It also highlights the danger of attributing chronic insomnia in psychiatric patients to their illness, without giving due consideration to other possible aetiologies. Clinicians should maintain a high index of suspicion for the presence of other aetiologies, and make timely and targeted referrals for sleep studies where appropriate.

Adult ; Age Factors ; Aged ; Aged, 80 and over ; Female ; Humans ; Male ; Medical Records ; Middle Aged ; Nocturnal Myoclonus Syndrome ; diagnosis ; Polysomnography ; methods ; Retrospective Studies ; Severity of Illness Index ; Singapore ; Sleep Apnea, Obstructive ; diagnosis ; Sleep Initiation and Maintenance Disorders ; therapy ; Sleep Wake Disorders ; diagnosis ; Treatment Outcome ; Young Adult

OBJECTIVETo investigate the efficacy of combined modality therapy for neuroblastoma in children associated with opsoclonus-myoclonus syndrome (OMS-NB).

METHODFrom May 2011 to December 2013, 6 consecutive patients (4 boys and 2 girls) diagnosed as OMS-NB underwent surgery and chemotherapy in the First Hospital, Peking University. The median age of onset was 19.5 months (range 13-24 months) and misdiagnosis occurred 7.5 months (range 2-14 months) ago. A retrospective analysis for the location, stage, pathological type, treatment way and outcome of neuroblastoma was done.

RESULT(1) All patients were misdiagnosed as simply opsoclonus-myoclonus syndrome (OMS) at the time of onset. They had been receiving treatment with adrenocorticotropic hormone and intravenous immunoglobulin within 1-13 months.OMS-NB was diagnosed by means of enhanced abdominal CT image which was delayed to be given after the poor efficacy or relapse. (2) The primary tumors were almost all small, stage I-II, located in adrenal, retroperitoneal or pelvis. The pathology of tumors included ganglioneuroblastoma (5/6) and neuroblastoma (1/6). (3) All these cases underwent surgery, 4/6 cases with complete tumor resection, 2/6 cases with tumor around the aorta and induced local residue. Preoperative and postoperative chemotherapy was given to 2 and 5 cases, respectively. (4) The patients were followed up for 3-31 months, except 1 patient lost, the other 5 are currently surviving disease-free (3 having been at the end of chemotherapy, 1 still in chemotherapy, and another had local recurrence and is receiving radiotherapy and chemotherapy after the second operation and now also stopped taking the medicine). The symptoms of nervous system have been significantly improved during postoperative chemotherapy.

CONCLUSIONTo reduce the misdiagnosis, regular CT imaging of the abdomen or pelvic should be ordered for all cases with OMS. The children with OMS-NB need to be actively treated with the combined modality therapy including surgery, chemotherapy or radiotherapy, to reduce recurrence and reduce the symptoms of nervous system.

Adrenal Gland Neoplasms ; complications ; diagnosis ; surgery ; therapy ; Antineoplastic Agents ; administration & dosage ; Antineoplastic Combined Chemotherapy Protocols ; therapeutic use ; Biomarkers ; analysis ; Chemotherapy, Adjuvant ; Child, Preschool ; Combined Modality Therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Neoplasm Recurrence, Local ; surgery ; therapy ; Neoplasm Staging ; Neuroblastoma ; complications ; diagnosis ; surgery ; therapy ; Opsoclonus-Myoclonus Syndrome ; diagnosis ; etiology ; therapy ; Retroperitoneal Neoplasms ; complications ; diagnosis ; surgery ; therapy ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome

OBJECTIVEThe study was designed to examine the clinical and electroencephalographic characteristics of children with Jeavons syndrome.

METHODVideo-electroencephalography (VEEG) monitoring was carried out in 9 patients with Jeavons syndrome. The clinical and electroencephalographic characteristics, treatment and prognoses were analyzed.

RESULTOf the 9 patients, 8 were female, and 1 was male. The onset age of children with eyelid myoclonia (EM) was from 3 to 9 years old. It was obtained through the chief complaint, prosecution or VEEG monitoring. Three cases were misdiagnosed and 2 cases were overlooked initially. Seven out of 9 patients had generalized tonic clonic seizures (GTCS) during the course of disease, of whom 5 experienced only one episode. GTCS was the cause for the first visits to hospital in 5 patients. Since the clinical manifestations of EM with or without absence were often slight, VEEG monitoring with eye closure and intermittent photic stimulation tests helped to induce discharges and seizures. Eye closure was more potent than intermittent photic stimulation as a triggering factor. Ictal EEG showed 3 - 6 Hz generalized spike and waves and polyspikes burst. The main treatment option was valproate monotherapy (6 cases) or combined with other antiepileptic drugs (1 case). Levetiracetam, lamotrigine and topiramate were also used in patients and effective to some degree. Two patients lost follow up. The age of 7 patients at follow-up ranged from 9 y to 15 y. Seizures were controlled in 1 case, suspiciously controlled in 1 case, decreased in frequency in 4 cases and were still frequent in 1 case. During follow-up, normal intelligence was found in the former 2 cases, difficult learning in 2 cases, and slightly intellectual impairment in 2 cases.

CONCLUSIONJeavons syndrome is one of the idiopathic generalized epilepsies characterized by EM with or without absence. The age of seizure onset might be difficult to be exactly established, as EM was often misinterpreted and overlooked initially. Clinical history combined with VEEG monitoring with eye closure and intermittent photic stimulation tests could diagnose this disease. Valproate and other new antiepileptic drugs were effective for this disease. Jeavons syndrome is a lifelong disorder. Seizures sometimes could be well controlled. When seizures were resistant to treatment, cognitive and intellectual impairment might occur.

Adolescent ; Age of Onset ; Anticonvulsants ; administration & dosage ; therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic ; diagnosis ; drug therapy ; physiopathology ; Epilepsy, Tonic-Clonic ; diagnosis ; drug therapy ; physiopathology ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Male ; Myoclonus ; diagnosis ; drug therapy ; physiopathology ; Photic Stimulation ; methods ; Retrospective Studies ; Seizures ; physiopathology ; Syndrome ; Valproic Acid ; administration & dosage ; therapeutic use

OBJECTIVETo investigate the basic clinical characteristics of paraneoplastic neurological syndrome (PNS) in children.

METHODTo retrospectively analyze the clinical data of 12 PNS children who were hospitalized in neurology department in Beijing Children's Hospital from 2010 to 2011. Some patients were followed up after surgery.

RESULTIn 12 patients with PNS, 11 were male and 1 was female. The mean onset age were (30.5 ± 15.3) months. The mean duration from neurological symptom onset to finding out of tumor was (112.7 ± 154.4) days. The onset of the disease in 2 patients was acute, in 3 was subacute and in the other 7 was chronic (2 of 7 had 2 to 3 relapses). Of 12 patients, 11 had symptoms of ataxia (3 patients also had opsoclonus and myoclonus, OMS), 1 had weakness of limbs at onset and then had ataxia. Nine of 12 patients had surgery, and pathologic diagnosis was neuroblastoma and ganglioneuroma. Six patients were followed-up for 8 to 21 months. One patient had a little improvement and 5 almost recovered.

CONCLUSIONThe PNS children can have neurological symptoms only at the onset and there were no particular evidence of tumor. It is prone to misdiagnosis. The prognosis of PNS in children was poor.

Adrenocorticotropic Hormone ; therapeutic use ; Biomarkers, Tumor ; analysis ; Brain ; diagnostic imaging ; pathology ; Child, Preschool ; Female ; Ganglioneuroma ; diagnosis ; pathology ; therapy ; Humans ; Immunoglobulins, Intravenous ; therapeutic use ; Infant ; Magnetic Resonance Imaging ; Male ; Neuroblastoma ; diagnosis ; pathology ; therapy ; Opsoclonus-Myoclonus Syndrome ; diagnosis ; pathology ; therapy ; Paraneoplastic Syndromes, Nervous System ; diagnosis ; pathology ; therapy ; Prognosis ; Radiography ; Retrospective Studies

OBJECTIVEClinical manifestations of opsoclonus-myoclonus syndrome (OMS) in children were summarized and analyzed and the clinical features and therapeutic approaches to OMS were investigated in order to improve its diagnosis and management.

METHODSClinical information on features and management of 6 cases with OMS inpatients being followed up from 2006 to 2007 were collected and analyzed.

RESULTSAmong the 6 cases, one was male and the other five were female. The age at the onset ranged from 12 to 26 months (average 21.0 months). Four of them had history of prior infection. The symptoms were opsoclonus, myoclonus, ataxia, sleep disturbances and behavioural problems in the 6 cases. Urinary DL-3-methoxy-4-hydroxy-acid amygdalin (VMA) was positive in 1 case. Abdominal B-mode ultrasound showed a mild hepatomegaly in 4 cases. The EEG showed abnormal findings such as slow background activity in 3 cases. Epileptiform discharges were found in none of the patients. MRI showed a high signal in medial longitudinal fasciculus and tectospinal tract on T2-weighted image in 1 case. Computerized tomography found L3-4 arachnoid cysts in 1 case and was normal in the others. Adrenocorticotropic hormone (ACTH) was given to all these patients and was effective in all during acute stage. In 2 cases the disease relapsed during follow-up stage.

CONCLUSIONOMS is a rare neurological condition with opsoclonus, myoclonus, ataxia, sleep disturbances and behavioral problems, which might relapse easily and is associated with adverse neurological outcome. ACTH therapy is effective in management of OMS.

Adrenocorticotropic Hormone ; therapeutic use ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Opsoclonus-Myoclonus Syndrome ; diagnosis ; therapy ; Prognosis ; Recurrence ; Treatment Outcome

Tinnitus is a perception of sound without external stimuli. The increase of noise from industrialization, complex psychological state, increase of old age people, and excessive medication make tinnitus a more common disease than ever before. However, the knowledge regarding diagnosis and treatment of tinnitus is still limited. Tinnitus can be categorized into paraauditory tinnitus and sensory neural tinnitus. Paraauditory tinnitus may occur from the sound generated by the vessel near the ear such as an arteriovenous fistula, abnormal vessel, a tumor around vessel, palatal myoclonus, and patent E tube. Sensory neural tinnitus can arise from senile hearing loss, noise-induced hearing loss, sudden deafness, sensorineural hearing loss associated with chronic otitis media, excessive medication, and so on. But there are many cases in which the specific cause cannot be defined. Diagnosis needs thorough history taking, physical examination, and radiologic and audiologic examination. Treatments for the paraauditory tinnitus are vessel ligation or coil embolization of arteriovenous fistula and removal of the causative factors. Although there are many treatment modalities for managing sensory neural tinnitus, a standardized treatment modality has not been established. Sensory neural tinnitus can be managed with tinnitus retraing therapy and electrical stimulation therapy. Although tinnitus is essentially not a life-treatening disease, advancing quality of life and the increasing number of patients with tinnitus mandate health-care providers to be more concerned with the disease tinnitus.
Arteriovenous Fistula ; Classification ; Deafness ; Diagnosis ; Ear ; Electric Stimulation Therapy ; Embolization, Therapeutic ; Hearing Loss, Noise-Induced ; Hearing Loss, Sensorineural ; Hearing Loss, Sudden ; Humans ; Ligation ; Myoclonus ; Noise ; Otitis Media ; Physical Examination ; Quality of Life ; Tinnitus*