Idiopathic Hypereosinophilic Syndrome Presenting with Recalcitrant Oral and Genital Ulcers Responding Well to Thalidomide.

Hypereosinophilic syndrome is a myeloproliferative disorder characterized by abnormal accumulation of eosinophils in the blood or peripheral tissues. It is uncommonly seen in children. We describe a 14-year-old girl diagnosed with idiopathic hypereosinophilic syndrome presenting with recurrent, painful oral and genital ulcers, hepatosplenomegaly along with consistently high eosinophil count and leucocytosis.

Childhood movement disorders: Clinicoetiological pattern and long-term follow-up at tertiary care center from South India.

Objectives: Movement disorders are common neurological problems. There is a considerable delay in the diagnosis of movement disorders which indirectly indicates their under-recognition. The studies regarding relative frequencies and their underlying etiology are limited.

Basal Ganglia Autoimmune Encephalitis Following Leptospirosis.

Basal ganglia encephalitis is a part of the spectrum of autoimmune basal ganglia disorders. We are reporting a child who had a fever with focal seizures followed by behavioral problems, rigidity, bradykinesia, and dystonia. His parkinsonism-like features were increasing day by day up to the level that the child was non-ambulatory.

A Randomized Controlled Trial on the Study of Effectiveness and Safety of Hormonal (ACTH) Treatment Alone versus Hormonal (ACTH) with Levetiracetam for Epileptic Spasms.

 West's syndrome (WS) is a triad of epileptic spasms (ESs), psychomotor delay, and hypsarrhythmia. The treatment of ESs is still controversial. Hence, we designed a randomized controlled trial (RCT) to compare the outcomes in children with WS treated with adrenocorticotropic hormone (ACTH) alone versus ACTH and levetiracetam (LEV).

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.

Compressive Myelopathy Secondary to Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type.

Transient receptor potential vanilloid 4 channel ( ) gene mutations have been described in skeletal system and peripheral nervous system pathology. The case described here is a 9-year-old male child patient, born to a nonconsanguineous marriage with normal birth history who had difficulty in walking and stiffness of joints for the last 7 years, and progressive weakness of all four limbs and urine incontinence for 1 year following falls. Physical examination showed below-average weight and height and short trunk.

Scrotal ulcers in an infant with multisystem inflammatory syndrome in children associated with severe acute respiratory syndrome coronavirus 2 infection.

The majority of cases of multisystem inflammatory syndrome in children (MIS-C) manifest non-specific mucocutaneous features. We report the case of a 3-month-old infant presenting with purpura, acral desquamation, and scrotal ulcers. Scrotal ulcers have not been previously reported in MIS-C and add to the spectrum of cutaneous findings associated with the disorder.

Case Series of Ethylmalonic Encephalopathy from Southern India.

Ethylmalonic encephalopathy is a rare neurometabolic disorder with central nervous system involvement and vasculopathy. It is presented in infancy with developmental delay, acrocyanosis, petechiae, chronic diarrhea, and early death. This was a retrospective study of confirmed cases of ethylmalonic aciduria from a tertiary care hospital over a period of 5 years from January 2015 to December 2020.

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases.

Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- /Human anthrax toxin-2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India.

Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency--Two Children from Southern India.

Cerebral folate transport deficiency results from impaired folate transport across the blood:choroid plexus:cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite. We are reporting two children with this treatable cerebral folate transport deficiency.

Thyroid Hormone Transporter Defect: Allan Herndon Dudley Syndrome, Masquerading as Dyskinetic Cerebral Palsy.

Allan Herndon Dudley syndrome (AHDS) is a rare X-linked recessive disorder due to mutation in the gene, which encodes a thyroid hormone (TH) transporter that facilitates the movement of TH across the neurons. Mutation in this gene leads to a lack of T3 and T4 entry in the brain, which causes central hypothyroidism and dysthyroidism in the peripheral tissue. We report a child, a 21-month-old boy, who presented with developmental delay and stiffness.

Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India.

 Childhood ataxia with central nervous system hypomyelination (CACH) is a recently described childhood inherited white matter disease, caused by mutations in any of the five genes encoding eukaryotic translation initiation factor ( ).  Retrospective review of the charts of children with CACH was performed from January 2014 to March 2020 at tertiary care center from Southern India. Diagnosis was based on magnetic resonance imaging (MRI) criteria or genetic testing.

Canavan Disease: Clinical and Laboratory Profile from Southern Part of India.

Background: Canavan disease (CD) is an autosomal recessively inherited leukodystrophy. It affects one in 6,400 to 13,500 people in the Jewish population. However, prevalence and presentation of the disease in India is largely unknown; hence, we are reporting this series.

Alpha-Mannosidosis from India due to a Novel Pathogenic Variant in Gene.

Alpha-mannosidosis is a lysosomal storage disorder caused by mutations in gene. A 7-year-old girl child, born of a consanguineous marriage, presented with developmental delay, seizures, and hearing impairment. On examination, she had coarse features without hepatosplenomegaly.

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

Background: Anti--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.

Case Series of Early -Related Developmental and Epileptic Encephalopathies.

Introduction: The developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of rare neurodevelopmental disorders, characterized by early onset seizures that are often intractable, electroencephalographic abnormalities, developmental delay, or regression. The pathogenic variants can present as DEE. They are characterized by early infantile seizure onset, profound intellectual disability, and a severe hyperkinetic movement disorder.

Cohort of Phenotype, Genotype, and Outcome of Developmental and Epileptic Encephalopathies from Southern Part of India.

The encephalopathies are one of the rare early childhood intractable epileptic encephalopathies associated with pleomorphic seizures, cognitive decline, motor, and behavioral abnormalities that begin in early infancy. There is a dearth of data on phenotype and genotype of encephalopathies from the Indian subcontinent, hence we are reporting clinical and molecular profile and outcome of developmental and epileptic encephalopathies. This is a retrospective chart review of developmental and epileptic encephalopathies in a tertiary care center, Bangalore, India between January 2015 and March 2020.

Clinical Profile and Outcome of Indian Children with Aromatic L-Amino Acid Decarboxylase Deficiency: A primary CSF Neurotransmitter Disorder Mimicking as Dyskinetic Cerebral Palsy.

Aromatic L-amino acid decarboxylase (AADC) deficiency is a disorder of neurotransmitter synthesis. It presents with psychomotor delay, dystonia, oculogyric crisis, and autonomic features. There is paucity of literature on this disorder.