Rare Treatable Cause of Demyelinating Leukoencephalopathy That One Cannot Afford to Miss.

Biotinidase deficiency is a treatable neurometabolic disorder. It usually presents during the first year of life with seizures, ataxia, hypotonia, vision and hearing disturbance, alopecia, and skin rashes. It can have various neuroimaging findings but demyelinating leukoencephalopathy is an unusual finding in children with biotinidase deficiency that can cause diagnostic challenge as it can radiologically mimic perinatal hypoxic-ischemic encephalopathy or other leukodystrophies. It reverses with early diagnosis and treatment with biotin supplementation and the outcome is rewarding.

Clinical Profile and Outcome in Children with Post Diphtheritic Paralysis in a Tertiary Care Hospital in Southern India.

Objectives: Post-Diphtheritic Paralysis (PDP), one of the most severe complications of diphtheria, is caused by exotoxin of Corynebacterium diphtheria. This study was planned since there has been a resurgence of diphtheria in India in recent years due to a number of epidemiological factors. Materials & Methods: Thirty-five children with PDP were studied in a tertiary care hospital in Southern India. Result: Neurological complications occurred in 38.5% of 91 patients with faucial diphtheria. Of the patients, 13 (37.1%) were unimmunized, 12 (34.3%) were partially immunized, two (5.7%) were completely immunized, and eight (22.6%) had unknown status. Isolated bulbar palsy and bulbar palsy followed by limb weakness were seen in 20 (57.1%) and 15 (42.9%) of the patients, respectively. The first symptoms of PDP occurred 5-34 days after the onset of local diphtheria infection. Eleven (31.4%) out of the 35 patients had received antitoxin between days 5-7 of illness. Ventilation-dependent respiratory failure occurred in three (8.6%) patients with PDP. Nine (25.7%) patients had evidence of co-existent myocarditis, while myocarditis with renal failure was seen in two (5.7%) patients. Four (11.4%) patients died, three from severe cardiomyopathy and one from aspiration. Demyelinating neuropathy was noted in 64% of the patients. Children with bulbar palsy recovered in 4-7 weeks, while limb symptoms improved in 6-17 weeks. Conclusion: PDP should be considered in any child presenting with bulbar palsy/quadriparesis following previous history of fever/sore throat. Awareness and availability with timely administration of ADS within 48 hours are essential to reduce PDP, as antitoxin seems ineffective if administered after the second day of diphtheritic symptoms.

Anti-NMDAR Encephalitis Presenting as Stroke-like Episodes in Children: A Case Series from a Tertiary Care Referral Centre from Southern India.

Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is one of the common causes of treatable encephalitis in children characterized by severe memory deficit, speech disturbances, seizures, autonomic dysfunction, and movement disorders. Hemiparesis/stroke-like episode is not a usual presenting complaint of NMDAR encephalitis. The objective of this study was to report confirmed cases of seropositive anti-NMDAR encephalitis in children who presented with hemiparesis/stroke-like episodes. Materials and Methods: Retrospective review of charts of patients with a diagnosis of NMDAR encephalitis was performed at the pediatric neurology department attached to a tertiary care hospital for 6 years from March 2014 to February 2020. Only those case records with NMDAR seropositivity in the cerebrospinal fluid were collected and those who presented with stroke-like episode/hemiparesis were retrieved separately and the data were extracted in a predesigned proforma and analyzed. Results: Six children of 24 seropositive anti-NMDAR encephalitis presented with hemiparesis/stroke-like episode. All the six patients presented with hemiparesis, behavioral changes, and regression of speech. Three children had seizures and one child had Epilepsia partialis continua. Two children had dystonia and choreoathetosis. Methylprednisolone followed by oral steroids were administered in all patients. Cases 1, 2, and 4 made a full recovery within 7 days, but cases 3, 5, and 6 showed improvement after 20 days following additional IVIG. Four children have cognitive decline and behavioral problems. Case 6 had relapse and recovered with rituximab. Conclusion: Anti-NMDA receptor encephalitis which is a potentially treatable disease should be considered in the differential diagnosis when a child presents with hemiparesis/stroke-like episode.