Opsoclonus Myoclonus Ataxia Syndrome
Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of OMS has been made. Brief…
Schwartz-Jampel Syndrome (SJS)
The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood, moderate bone dysplasia. Type…
Investigations in Epileptic Encephalopathies
Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor…
Nesprinopathies
Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane,…
Investigations of the baby with abnormal neurology
Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning.…
Symptomatic drugs for migraine management evaluated in placebo-controlled and open clinical trials
References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%)Active drug Responders (%)Placebo p value…
The First Description of Tay-Sachs Disease by Warren Tay, 1881
In 1881, British ophthalmologist Warren Tay published his groundbreaking observation of a cherry-red spot on the retina of a child suffering from a neurological disorder. This momentous discovery marked the first description of what would later be known as Tay-Sachs disease, a…
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Opsoclonus Myoclonus Ataxia Syndrome
Recommendations for the Dosing and Monitoring of Immunotherapeutic Agents in the Treatment of OMAS: Steroid Treatment and Ivig Treatment of OMS in children Prompt treatment is generally considered important and should be initiated when a diagnosis of OMS has been made. Brief…
Schwartz-Jampel Syndrome (SJS)
The first case of Schwartz-Jampel syndrome (SJS) or chondrodystrophic myotonia was explained in 1962 by Oscar Schwartz and Robert S. Jampel in siblings with myotonic myopathy and blepharophimosis. Classification: Type 1A: Recognized in childhood, moderate bone dysplasia. Type…
Jun 09, 2024
Investigations in Epileptic Encephalopathies
Differential Diagnosis Epileptic encephalopathies presenting with seizures as prominent/unique symptom Vitamin or enzymatic cofactor…
Jun 08, 2024
Nesprinopathies
Definition and Cause Nuclear envelopathies are diseases resulting from mutations in genes encoding parts of the inner nuclear membrane,…
Jun 08, 2024
Investigations of the baby with abnormal neurology
Flat baby Further neurological investigations are indicated when the aetiology is not clearly asphyxia, trauma, infection or poisoning.…
Jun 08, 2024
Symptomatic drugs for migraine management evaluated in placebo-controlled and open clinical trials
References Drug Study Design Evidence level Dose Age(years) Number of patients Responders (%)Active drug Responders (%)Placebo p value…
