Dystonia Deafness Syndrome: A Rare Deep Brain Stimulation Responsive Dystonia.

Dystonia deafness syndrome (DDS) is a rare syndrome characterized by childhood onset sensorineural deafness followed by adult-onset dystonia. We here report the first case of DDS from India caused by ACTB gene mutation presented with deafness, generalized dystonia and scoliosis who showed improvement after Deep brain stimulation.

Real-life benefits of intrajejunal levodopa infusion therapy in four patients with the parkinsonian variant of progressive supranuclear palsy: A 1-year follow-up data report.

BACKGROUND: Progressive supranuclear palsy (PSP) is a progressive neurodegenerative condition presenting with different clinical endophenotypes. The parkinsonian variant of PSP (PSP-P) is characterised by early but fading responsiveness to high-dose levodopa therapy; however, high-dose oral therapy is often associated with intolerance due to dopaminergic side effects and so doses may have to be capped despite clinical benefits. Evidence from animal models and real-life registries suggest far higher doses of levodopa can be tolerated if given in a continuous drug delivery (CDD) manner. We investigated tolerance and possible clinical benefits in patients with PSP-P still responsive to levodopa after initiating CDD in the form of intrajejunal levodopa infusion (IJLI) therapy as part of a compassionate usage program (CU). METHODS: This is an observational clinical data report from the IJLI implementation program undertaken in regional tertiary referral Parkinson's centres in India and at King's College Hospital London, Dubai as part of a CU. Four patients with PSP-P receiving IJLI as a part of a CU underwent evaluations of liver and renal function, motor and nonmotor function, quality of life, sleep dysfunction, fatigue, anxiety and depression, and cognitive impairment at baseline and 6 and 12 months post-IJLI initiation. RESULTS: In total, three out of four patients successfully completed 12 months of treatment (6 months in one patient). All four patients showed good tolerability to IJLI even at higher doses (1400 and 1960 mg at 6 and 12 months, respectively) when compared to oral levodopa (812.5 ± 103 levodopa equivalent daily dose [LEDD]) and presented with overall persistent improvements in motor and nonmotor scores and quality-of-life scores at 6 and 12 months post-IJLI. All patients showed improvement in estimated glomerular filtration rate (43.50 ml/min/1.73 m2 to 67.5 ml/min/1.73 m2 and 79.5 ml/min/1.73 m2 at 6 and 12 months, respectively). CONCLUSIONS: IJLI led to persistent beneficial effects on motor and some nonmotor aspects in patients with PSP-P at up to 12 months after treatment with associated improvement in overall renal function.

Pyridoxine-dependent convulsions among children with refractory seizures: A 3-year follow-up study.

INTRODUCTION: Epilepsy accounts for 1% of the global disease burden and about 8-10 million epilepsy patients live in India. About 30-40% of these patients become drug-resistant and land up with palliative or disease-modifying surgeries. This is a situation causing great concern in view of the psychosocial and economic burden on the patient and the family apart from severe cognitive and motor consequences, especially in children. Therefore, it is mandatory to have an insight into the wide spectrum of causes with reference to refractoriness to antiepileptic medications in children with epilepsy. PATIENTS AND METHODS: Children admitted under our team with refractory epilepsy as per the International League Against Epilepsy (ILAE) criteria in the last 3 years were included in the study. RESULTS: Refractory epilepsy constituted 13.3% of inpatients in the pediatric group. Males dominated with 68.9% of these patients. Nearly 34.4% of these patients were found to suffer from various neurometabolic diseases. Almost 3.5% were due to pyridoxine-dependent convulsions. This group of patients showed an excellent response to dietary manipulation, disease-modifying treatment for the metabolic disorder, and supportive small-dose anticonvulsants. During follow-up, they showed very good response with reference to global development and seizure control. CONCLUSION: Pyridoxine-dependent convulsions are relatively rare forming about 3.5% of refractory epilepsies in this series. With initiation of appropriate therapy, results with reference to seizure control as well as neurodevelopment became evident within 2 weeks, and at 1-year follow-up, complete independence for majority of the needed activities is achieved with minimum cost, almost zero side effects, and absolute elimination of the need for palliative surgery.