Phospholipase A2-associated neurodegeneration (PLAN) comprises of three disorders with overlapping presentations. The most common of these is classical or infantile-onset phospholipase A2-associated neurodegeneration, also known as infantile neuroaxonal dystrophy (INAD). Only 1 case of INAD has been reported from India till now. We report two genetically confirmed patients seen at a tertiary care pediatric hospital. Both these patients presented with infantile onset of neuroregression. We believe that INAD is underrecognized and underreported from India.

Hemimegalencephaly (HME) is a rare hamartomatous congenital malformation of the brain. The epilepsy pattern in HME can be partial seizures or may present as spasms as in epileptic encephalopathy. Epilepsy associated with HME is usually resistant to antiepileptic drugs and requires surgical intervention. Hemispheric disconnection has been reported to be efficient in seizure control and prevents further cognitive injury and developmental delay. We report a case of HME, who underwent a two-stage hemispherotomy due to complications in the first surgery. She had more than 90% reduction of seizures with good developmental outcome on follow-up. Thus, despite risks of the procedure, early surgery should be preferred in infants with HME.

Background: Trigeminal neuralgia (TN) is a painful condition, often leading to poor quality of life. Objective: The aim of this review was to discuss the various treatment modalities for the medical management of TN. Materials and Methods: We reviewed the available literature on TN in clinical databases including PubMed, Google Scholar, and the Cochrane Database of Systematic Reviews, with a specific focus on the pharmacological treatment and newer drugs under development for the treatment of TN. Results: Carbamazepine (CBZ) is the gold standard of treatment for TN. The first-line drugs for the treatment of TN are CBZ and oxcarbazepine (OXC). A proportion of cases (30%) are initially resistant to the first-line drugs. Alternative drugs need to be considered if the first-line drugs are not well tolerated or become ineffective with prolonged therapy. The second-line drugs comprise lamotrigine, baclofen, gabapentin, and pregabalin used as monotherapy or in combination with CBZ/OXC. Botulinum toxin A may be a promising presurgical option. Newer drug like vixotrigine has shown good results in phase two randomized control trials. About 50% of cases develop treatment resistance to oral drugs over the subsequent years of therapy and require surgical options. Conclusion: The first-line drugs for the treatment of TN (irrespective of the age group or type) are CBZ and OXC. Combination therapy with second-line or other drugs may become necessary with poor response to CBZ/OXC, or if adverse events occur. Patients should be offered surgical options if there is poor response or tolerance to the medical therapy.

No abstract

No abstract