The phenotypic spectrum of SCN2A-related epilepsy was broad, ranging from benign epilepsy in neonate and infancy to severe epileptic encephalopathy. Developmental and epileptic encephalopathy and benign familial infantile seizures are caused by heterozygous mutations in the SCN2A gene. Developmental and epileptic encephalopathy is a neurologic disorder characterized by the onset of seizures in the first days, weeks, or months of life. Seizures comprise multiple types, including tonic, generalized, and myoclonic, and tend to be refractory to medication. Additional common features include microcephaly, hypotonia, and abnormal movements, such as dystonia, dyskinesias, and chore athetotic movements. The phenotype is highly variable, even in patients with the same mutation. Benign familial infantile seizure is a seizure disorder of early childhood with age at onset from 3 months up to 24 months. It is characterized by brief seizures beginning with a slow deviation of the head and eyes to one side and progressing to generalized motor arrest and hypotonia, apnoea and cyanosis, and limb jerks. Seizures that begin shortly after birth or in infancy and are not associated with fever may suggest an SCN2A-related disorder. Genetic testing is required to confirm a diagnosis. Treatment for SCN2A-related disorders will depend on the type and severity of the seizures. Even Sodium channel-blocking medications are more effective, a combination of seizure medications is typically used to control the different seizure types. Key words: SCN2A gene, Developmental and epileptic encephalopathy, Benign familial infantile seizures, Genetic testing.

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by the overgrowth of various body parts and an increased risk of certain types of cancer. One of the physical features of BWS is macroglossia or an enlarged tongue. In some cases, macroglossia can cause difficulty with speaking, eating, and breathing. A case report on BWS with macroglossia and reduction glossectomy would describe the patient's symptoms and medical history, as well as the diagnosis, treatment, and outcome of the condition. The patient, a 6 -year-old female, presented with symptoms of macroglossia, which was confirmed by physical examination. The patient also had a history of BWS, which had been diagnosed at birth. The patient's macroglossia was causing difficulty with speaking and eating regurgitation of food through the nose and was also putting her at risk for sleep apnoea. After a thorough evaluation, the decision was made to perform a reduction glossectomy, which is a surgical procedure that involves removing a portion of the tongue in order to reduce its size. The surgery was performed under general anaesthesia and was successful in reducing the size of the patient's tongue and improving his ability to speak and eat. The patient recovered well from the surgery and was discharged from the hospital after 3 days of admission. At the 3 months follow-up appointment, the patient had no difficulty with speech, or eating and did not have sleep apnoea. This case report highlights the importance of early diagnosis and treatment of BWS, as well as the potential benefits of reduction glossectomy in managing the symptoms of macroglossia in this condition.

Sandifer syndrome (SS), a movement disorder which is characterised by spasmodic torsional dystonia with back arching and rigid opisthotonic posturing, negatively impacting predominantly the neck, back, and upper extremities. Symptomatic gastro-esophageal reflux disease, esophagitis, or the presence of a hiatal hernia are all associated with Sandifer syndrome. The cause of Sandifer syndrome being uncertain, lifestyle adjustments and modifications highlights as the appropriate mode of treatment. To treat the condition and help relax the baby after feeding, dietary changes or medications can be administered. The case report of a patient with Sandifer Syndrome is considered for observation. Upon arrival, the child was stable, and an Electro-encephalogram (EEG) test revealed nothing abnormal. The child was taking several Anti-epileptic drugs (AED’s), which were stopped in favour of Sodium valproate and Pyridoxine.  An opinion from a Gastro-enterologist was sought in light of the epilepsy and possible Gastro-esophageal reflux disease (GERD), and they suggested a milk scan. Rantac was then started, and breastfeeds were thickened. Milk can indicate mild GERD and a reduction in episode frequency. So, sodium valproate was discontinued. Haemodynamically stable child was discharged from the hospital with Pyridoxine and Carnisure. Studies shows most cases of SS improve over time, within the first 24 months in general.

Fulminant Guillain-Barré syndrome (GBS) is a rapidly progressive form of polyneuropathy in which patients demonstrate eventual flaccid quadriplegia and an absence of brainstem function. Most patients present initially with a mild upper respiratory or gastrointestinal illness and have non-diagnostic cerebral imaging studies. Here we report the case of child aged 7 who was admitted initially with complaints of weakness of lower limbs lasting for 4-5 hours. He had difficulty in standing and walking, associated with pain in both lower limbs. Flaccid weakness rapidly progressed over 12 hours to involve both upper limbs along with difficulty in swallowing and nasal regurgitation of feeds. He was intubated and mechanically ventilated for respiratory failure. Over the period of time, after confirmation with all the test reports and symptoms, other differential diagnoses were ruled out and fulminant GBS was considered and hence plasmapheresis was started. Over the period of 3 months his muscle power slowly improved. During discharge, he was able to lift limbs against minimal resistance, turn sideways on bed, sit up with minimal support and likewise stand with support.

Kawasaki disease (KD) is an acute vasculitis of children that leads to coronary artery aneurysms in ≈ 25 of untreated cases. It has been reported worldwide and is the leading cause of acquired heart disorder in children in developed countries. The diagnosis of KD is made on basis on the clinical findings. Atypical KD includes patients who don't meet all the criteria for opinion. The main complication of Kawasaki complaint is coronary aneurysm, and the treatment is intravenous immunoglobulin and aspirin. Another dose of immunoglobulin is given if the patient doesn't ameliorate, and several other treatment options have been proposed over the last many years as alternate and third line options. The AHA criteria, which incorporate suggestions for laboratory tests and early echocardiography, are helpful for diagnosing incomplete KD. Diagnosis is based on the presence of fever lasting longer than 5 days and four of five specific clinical criteria. In Japan, at least five of six criteria (fever and five other clinical criteria) should be fulfilled for the determination of KD. From the Japanese circulation society joint working groups criteria (JCS 2008, Guidelines for diagnosis and management of cardiovascular sequela in KD), KD can be diagnosed indeed when fever lasts lesser than 5 days. Though, according to the American heart association (AHA) criteria, fever lasting more than 5 days is essential for KD diagnosis. The use of intravenous immunoglobulin is well established in KD. Aspirin has been used in KD for anti-inflammatory effect, and low-dose aspirin is recommended to reduce the risk of thrombosis.