Journal of Academy of Pediatric Neurology

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Volume 1, Number 1, January-June 2025
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ORIGINAL RESEARCH

Vykuntaraju K Gowda, Vidya S Naik, Sharath Babu, Aqila B Abdullah

A Spectrum of Chronic Inflammatory Demyelinating Polyradiculoneuropathy in Children and Outcome: A Treatable Neurological Disorder: Three Cases from Single Center

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:4] [Pages No:1 - 4]

Keywords: Abnormal reflexes, Chronic inflammatory demyelinating polyradiculoneuropathy, Intravenous immunoglobulin, Muscle hypotonia, Rituximab

   DOI: 10.5005/jaopn-11028-0002  |  Open Access |  How to cite  | 

Abstract

Background: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a treatable chronic disorder of the peripheral nervous system, with predominant motor involvement. The disease is characterized by insidious onset over several months or recurrent episodes. The pediatric population faces unique diagnostic challenges due to their rarity and therapeutic challenges due to lack of evidence, hence, we are reporting this series. Objective: To describe the clinical and laboratory characteristics and treatment outcomes of Pediatric CIDP, aiming to improve the insights for future management approaches. Results: This study presents three children diagnosed with CIDP based on their clinical presentation, nerve conduction studies (NCS), nerve biopsy findings, and criteria. Out of 3, two were male. The mean age of onset was 12.3 years (range 6–16 years). Two of the three cases exhibited gradual onset progressive weakness of limbs whereas one case had acute onset of quadriparesis mimicking Guillain-Barré syndrome. Two had cranial nerve involvement. All had abnormal NCS suggestive of demyelinating polyradiculoneuropathy. Nerve biopsy demonstrated evidence of inflammatory demyelination. All the cases were treated with pulse dosing of steroids and intravenous Immunoglobulin (IVIG) during the presentation, and subsequently managed with oral steroids. Steroid-sparing medications, rituximab and mycophenolate mofetil (MMF) were necessary for all of them for incomplete recovery and to prevent relapse, which led to a remarkably favorable response. Conclusion: This case series highlights the variable nature of CIDP in its initial presentation, its course, and the requirement of steroid-sparing agents to prevent relapses.

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CASE SERIES

Rajdeep Saha, Somjeet Jana, Samit Basu, Kalpana Datta

Unraveling the Mysteries of Childhood Stroke: Insights from a Comprehensive Case Series

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:6] [Pages No:5 - 10]

Keywords: Childhood stroke, Focal cerebral arteriopathy, Mineralizing angiopathy

   DOI: 10.5005/jaopn-11028-0008  |  Open Access |  How to cite  | 

Abstract

A stroke is an acute neurologic emergency with the need for urgent diagnosis, central nervous system imaging, and prompt treatment, ideally in the set time window. A stroke in pediatric patients is associated with significant morbidity and mortality. This case series showing etiologies of childhood stroke are of a multifactorial nature, including both genetic predisposition and environmental triggers. Those five children mentioned in this series have a complete recovery following treatment and physical rehabilitation. None of our patients had a recurrence during the short duration of follow-up. To understand the natural history, larger cohorts, and longer follow-up would be needed. Establishing a disease-specific registry would be of importance for this.

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CASE SERIES

Amol Andhale, Kanchan Devde, Tushar Patil

Clinical Presentation and Genetic Insights of Mowat–Wilson Syndrome: A Case Series from India

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:3] [Pages No:11 - 13]

Keywords: Congenital heart defect, Esotropia, Hirschsprung's, Mowat–Wilson syndrome, Zinc finger E-box binding homeobox 2 mutation

   DOI: 10.5005/jaopn-11028-0001  |  Open Access |  How to cite  | 

Abstract

This case series focuses on two female infants presented with developmental delay associated with multiple congenital anomalies who were eventually found to have Mowat–Wilson syndrome. To begin with, the first case discusses an 8-month infant with notable dysmorphic facial features, congenital heart defect, and developmental milestones delays. Genetic panel tests showed both exome sequencing and a new mutation of the genes including Zinc finger E-box binding homeobox 2 (ZEB2). Another case presented included a 12-month-old who had global developmental delay and hypotonic with an unusual shape craniofacial head. Consistent genetic testing also strong evidence sequenced Mowat–Wilson syndrome with ZEB2 mutation. All of them were evaluated and concluded the diagnosis using comprehensive physical rehabilitation, metabolic nutrition, and even genetic counseling in order to try and fix as much as possible their developmental problems. So, this case series has highlighted various features and the need for syndromology and genetic assessment in congenital disorders with non-specific measures.

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CASE REPORT

Ayush Khare, Jayshree Mahigh, Dixa Shah, Nitish Vora, Sanjiv Mehta, Siddharth Shah, Rahul Badheka

A Rare Case of KCTD7 Gene Mutation Masquerading as Opsoclonus-myoclonus Ataxia Syndrome – A Case Report

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:3] [Pages No:14 - 16]

Keywords: Case report, KCTD7(+) mutation, Myoclonus, Opsoclonus-myoclonus/ataxia syndrome

   DOI: 10.5005/jaopn-11028-0003  |  Open Access |  How to cite  | 

Abstract

Introduction: The KCTD7 gene is a potassium channel-related gene. Mutations in this gene, either homozygous or compound heterozygous, typically result in early-onset, intractable myoclonic seizures before the age of 2 years, often accompanied by developmental regression. In this case, a homozygous missense variant in exon 3 of the KCTD7 gene (chr7:g.66638272C>T; depth: 97x) was identified, causing an amino acid change from arginine to cysteine at codon 112 (p.Arg112Cys; ENST00000639828.2). Due to limited evidence in the literature, this variant has been classified as one of uncertain significance, necessitating careful correlation with clinical findings. Clinical description: We present a rare case of a 1-year-old male patient presenting with acute onset of myoclonus, opsoclonus, and ataxia with developmental delay. Patient was given intravenous and oral steroids, but showed little improvement; so, intravenous rituximab treatment was also tried. He also had abnormal epileptic discharges from right hemisphere with background abnormality. Previous high-resolution computed tomography scan of the thorax, computed tomography scan of the abdomen, and magnetic resonance imaging of brain were reported as normal. Therefore, whole exome sequencing was sent, which reported as homozygous, autosomal recessive, KCTD7(+) mutation, which is mainly reported as a cause for progressive myoclonic epilepsy-3. Conclusion: An evaluation for KCTD7 gene mutation should be done if a patient presents with an atypical course of opsoclonus-myoclonus with ataxia.

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CASE REPORT

Jayshree Mahigh, Dixa Shah, Ayush Khare, Nitish Vora, Sanjiv Mehta, Siddharth Shah

Scrub Typhus: An Uncommon Cause for Pediatric Acute Cerebellitis in India – A Case Report

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:2] [Pages No:17 - 18]

Keywords: Ataxia, Case report, Orientia tsutsugamushi, Pyrexia of unknown origin, Scrub typhus

   DOI: 10.5005/jaopn-11028-0006  |  Open Access |  How to cite  | 

Abstract

Scrub typhus is a clinical condition, which is endemic to our country. It is an acute to sub-acute form of febrile illness, causing range of milder symptoms from fever, body pain to more severe complications such as acute kidney failure, scrub meningitis and sometimes even death. Recently, since last few years, the cases of scrub typhus are on a rise and the total number of documented cases are quite less than the actual prevalence. Many cases go unreported, or gets diagnosed only in the 2nd week of illness because of its undifferentiated symptoms from other common diseases. This clinical condition can literally affect any organ, and has become one of the commonest causes of pyrexia of unknown origin (PUO). But once the diagnosis is done, the specific treatment is available and in majority of cases, the cure is complete specially if started early, therefore, it is important to have an awareness among doctors regarding the nature, symptoms, and treatment of scrub typhus. In this article, we present a case report of a 8 years old boy with atypical presentation of fever followed by ataxia.

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CASE REPORT

Dixa Shah, Jayshree Mahigh, Ayush Khare, Nitish Vora, Sanjiv Mehta, Siddharth Shah

Atypical Presentation of Pompe Disease: Overlapping Features of Infantile-onset Pompe Disease and Late-onset Pompe Disease – A Case Report

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:2] [Pages No:19 - 20]

Keywords: Atypical Pompe disease, Acid alpha-glucosidase enzyme level, Case report, Enzyme replacement therapy

   DOI: 10.5005/jaopn-11028-0004  |  Open Access |  How to cite  | 

Abstract

Background: Pompe disease, a lysosomal storage disorder characterized by the deficiency of the enzyme acid alpha-glucosidase (GAA), leads to harmful glycogen accumulation within cells, resulting in muscle weakness and organ dysfunction. Clinical description: This case report discusses an atypical manifestation of Pompe disease in a 6-year-old male, who initially presented with dilated cardiomyopathy at 2.5 months and later exhibited overlapping features of both infantile and late-onset Pompe disease. Despite the typical prognosis of infantile-onset Pompe disease, which often results in early mortality, this patient survived due to timely interventions. His clinical history revealed developmental delays, hypotonia, and recurrent heart issues, ultimately leading to a diagnosis confirmed by low GAA enzyme activity. Genetic testing showed no deletions or duplications, highlighting the rarity of this presentation. Conclusion: The results highlight the significance of identifying unusual presentations of Pompe disease, which may deviate from typical timelines or symptomatology, stressing the necessity for increased vigilance in clinical environments. Enzyme replacement therapy (ERT) is crucial for effective management, and this case demonstrates the possibility of prolonged survival through early intervention and continuous treatment.

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CASE REPORT

Snehal Siddharam Shinde, Alpana Santosh Kondekar, Purvi Chandraprakash Agarwal, Surbhi Pravin Rathi

MOGADs Presenting as Cortical Cerebral Encephalitis in Adolescent: A Case Report

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:4] [Pages No:21 - 24]

Keywords: Acute demyelinating encephalomyelitis, Autoimmune encephalitis, Case report, Optic neuritis, Multiple sclerosis, Myelin Oligodendrocyte glycoprotein antibody associated diseases

   DOI: 10.5005/jaopn-11028-0005  |  Open Access |  How to cite  | 

Abstract

Myelin oligodendrocyte glycoprotein antibody associated diseases (MOGADs) is an inflammatory demyelinating condition of the central nervous system (CNS) characterized by a monophasic or relapsing course of neurological dysfunction. We hereby discuss the case of an 11-year-old girl with frequent relapses of MOGADs and complications related to her therapy. Each episode was characterized by visual deficits associated with severe headaches, giddiness and altered sensorium. Magnetic resonance imaging (MRI) brain suggestive of heterogeneous abnormal signal lesions in posterior parietal area involving the cerebellar peduncles. Cerebrospinal fluid (CSF) for myelin oligodendrocyte glycoprotein (MOG) antibody was positive. She had three relapses in a span of 5 months while on maintenance treatment on steroid with mycophenolate mofetil and treated with intravenous immunoglobulin (IVIG) and oral steroids during relapse. Myelin oligodendrocyte glycoprotein antibody positivity with bilateral optic neuritis (ON) and absence of Dawson's fingers appearance/periventricular lesion on MRI brain ruled out multiple sclerosis (MS) in this patient, while adolescent age, female gender and ON are overlapping features.

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CASE REPORT

Rajdeep Saha, Pamela Pattanayak, Kalpana Datta, Moumita Samanta

A Challenging Case of Neuropsychiatric Juvenile-onset Systemic Lupus Erythematosus: Case Report

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:3] [Pages No:25 - 27]

Keywords: Case report, Childhood stroke, Neuropsychiatric systemic lupus erythematosus, Vasculitis

   DOI: 10.5005/jaopn-11028-0007  |  Open Access |  How to cite  | 

Abstract

The involvement of the nervous system in systemic lupus erythematosus (SLE) patients leads to a nonspecific and heterogeneous group of neuropsychiatric (NP) manifestations. No laboratory or radiological biomarker nor other formal system exists for setting up a diagnosis and guiding therapy decisions in neuropsychiatric SLE (NPSLE). In clinical practice, an individual multidisciplinary diagnostic and therapeutic approach based on the suspected cause and severity of symptoms is recommended. We are reporting a case of NP juvenile-onset systemic lupus erythematosus which presented like a case of meningoencephalitis with unilateral hemiplegia.

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LETTER TO EDITOR

Sugata Mahapatra, Mahesh Kamate

An Unusual Cause of Extreme Irritability in a Toddler

[Year:2025] [Month:January-June] [Volume:1] [Number:1] [Pages:1] [Pages No:28 - 28]

Keywords: Anti-seizure medications, Epstein–Barr virus, Neuroblastoma, Opsoclonus myoclonus ataxia syndrome

   DOI: 10.5005/jaopn-11028-0009  |  Open Access |  How to cite  | 

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