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  • 1
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    Cohort of Phenotype, Genotype, and Outcome of SCN Developmental and Epileptic Encephalopathies from Southern Part of India
    Georg Thieme Verlag KG ; 2023
    In:  Journal of Pediatric Genetics Vol. 12, No. 01 ( 2023-03), p. 032-041
    Details
    In: Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 12, No. 01 ( 2023-03), p. 032-041
    Kurzfassung: The SCN 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 SCN encephalopathies from the Indian subcontinent, hence we are reporting clinical and molecular profile and outcome of SCN developmental and epileptic encephalopathies. This is a retrospective chart review of SCN developmental and epileptic encephalopathies in a tertiary care center, Bangalore, India between January 2015 and March 2020. All children with clinical features of SCN developmental and epileptic encephalopathies and confirmed with pathogenic variants were included. A total of 50 cases of SCN developmental and epileptic encephalopathies were analyzed, 31 of them were male and the mean age of presentation was 7.8 months. Precipitating factors for the first episode of seizure were fever and vaccination accounting for 33 and 8 children, respectively. Forty (80%) children had prolonged seizures and 15 (30%) had epileptic spasms. All children had a normal birth history and normal development before the onset of seizures, which was followed by developmental delay and regression. Thirty (60%) children had behavioral difficulties, notable hyperactivity, and autistic features. Neuroimaging and the initial electroencephalogram (EEG) were normal in all patients. The mean age of abnormal EEG was 14 months. The various subtypes of SCN variants were SCN1A in 31 children followed by SCN2A and SCN9A in eight children each and SCN1B in three children. Frameshift and nonsense mutations were associated with more severe phenotype and poor outcome compared with missense mutations. Thirty-four patients partially responded to treatment and the rest were refractory. The results of genetic testing were used to guide treatment; sodium channel blocking antiepileptic drugs were discontinued in 15 patients and sodium channel blocking agents were started in 3 patients with partial response. Three out of four children on stiripentol had a partial response. The SCN developmental and epileptic encephalopathies can present with epileptic spasms in addition to other types of seizures. Epileptic spasms are more common in nonsense and frameshift mutations. The outcome is poor in children with epileptic spasms compared with those without epileptic spasms. Genetic testing helps to select antiepileptic drugs that lead to seizure reduction.
    Materialart: Online-Ressource
    ISSN: 2146-4596 , 2146-460X
    URL: Article
    DOI: 10.1055/s-0041-1731020
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2023
    ZDB Id: 2660767-0
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  • 2
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    Compressive Myelopathy Secondary to TRPV4 Skeletal Dysplasia: Spondylometaphyseal Dysplasia, Kozlowski Type
    Georg Thieme Verlag KG ; 2022
    In:  Journal of Pediatric Genetics
    Details
    In: Journal of Pediatric Genetics, Georg Thieme Verlag KG
    Kurzfassung: Transient receptor potential vanilloid 4 channel (TRPV4) 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. Musculoskeletal examination revealed bony prominence bilaterally in the knee joints and contractures in knee and elbow joints with brachydactyly; muscle tone was increased, with brisk deep tendon reflexes. Skeletal survey showed platyspondyly with anterior beaking with metaphyseal dysplasia. Magnetic resonance imaging of the spine revealed atlantoaxial instability with hyperintense signal changes at a cervicomedullary junction and upper cervical cord with thinning and spinal canal stenosis suggestive of compressive myelopathy with platyspondyly and anterior beaking of the spine at cervical, thoracic and lumbar vertebrae. Exome sequencing revealed a heterozygous de novo variant c.2389G  〉  A in exon 15 of TRPV4, which results in the amino acid substitution p.Glu797Lys in the encoded protein. The characteristics observed indicated spondylometaphyseal dysplasia, Kozlowski type (SMD-K). The child underwent surgical intervention for compressive myelopathy by reduction of atlantoaxial dislocation with C1 lateral mass and C2 pars fusion using rib graft and fixation using screws and rods. To conclude, for any child presenting with progressive kyphoscoliosis, short stature, platyspondyly, and metaphyseal changes, a diagnosis of SMD-K should be considered and the patient and family should be advised to avoid spinal injuries.
    Materialart: Online-Ressource
    ISSN: 2146-4596 , 2146-460X
    URL: Article
    DOI: 10.1055/s-0041-1741424
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2022
    ZDB Id: 2660767-0
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  • 3
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    A Treatable Cause of Myelopathy: Biotinidase Deficiency Presenting as Acute Flaccid Paralysis
    Georg Thieme Verlag KG ; 2022
    In:  Journal of Pediatric Genetics Vol. 11, No. 03 ( 2022-09), p. 257-260
    Details
    In: Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 11, No. 03 ( 2022-09), p. 257-260
    Kurzfassung: Biotinidase deficiency (BD) is a rare treatable cause of neurometabolic disorders. It is an autosomal recessive disorder that manifests with cutaneous and neurological manifestations. Spinal cord involvement is uncommon with only a few cases reported in the literature. A 6-year-old female child presented with progressive difficulty in walking since 2 months. At 6 months of age, the child was elsewhere evaluated for global developmental delay and suspected as metabolic disorders and started on megavitamins, following which the child was improved. For the past 2 years, she has stopped medicines. On examination, irritable, alopecia, eczema, hypotonia, and power of two-fifths in all four limbs, and exaggerated deep tendon reflexes. The magnetic resonance imaging (MRI) brain and spine showed T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities in periaqueductal gray matter, dorsal midbrain, pons, medulla, and cervical cord. She was suspected to have BD and confirmed by low enzyme levels and pathogenic variant in BTD. She was started on biotin supplements that resulted clinically dramatic improvement and MRI became normal within 4 weeks. Any child presenting with acute flaccid paralysis with brainstem and spinal cord noncompressive lesions on MRI, rare treatable conditions like BD should be considered in developing countries, like India, where still no universal newborn screening facilities are available.
    Materialart: Online-Ressource
    ISSN: 2146-4596 , 2146-460X
    URL: Article
    DOI: 10.1055/s-0040-1718537
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2022
    ZDB Id: 2660767-0
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  • 4
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    Clinical, Demographic, and Electroencephalographic Profile of Hot-Water Epilepsy in Children
    Springer Science and Business Media LLC ; 2021
    In:  Indian Journal of Pediatrics Vol. 88, No. 9 ( 2021-09), p. 885-891
    Details
    In: Indian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 88, No. 9 ( 2021-09), p. 885-891
    Materialart: Online-Ressource
    ISSN: 0019-5456 , 0973-7693
    URL: Article
    DOI: 10.1007/s12098-020-03570-y
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2021
    ZDB Id: 2065273-2
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  • 5
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    Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India
    Georg Thieme Verlag KG ; 2022
    In:  Journal of Pediatric Genetics Vol. 11, No. 01 ( 2022-03), p. 034-041
    Details
    In: Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 11, No. 01 ( 2022-03), p. 034-041
    Kurzfassung: Gangliosidoses are progressive neurodegenerative disorders caused by the deficiency of enzymes involved in the breakdown of glycosphingolipids. There are not much data about gangliosidosis in India; hence, this study was planned. The aim is to study the clinical, biochemical, and molecular profile of gangliosidosis. A retrospective chart review, in the pediatric neurology department from January 2015 to March 2020, was performed. Children diagnosed with Gangliosidosis were included. The disorder was confirmed by reduced activity of enzymes and/or pathogenic or likely pathogenic variants in associated genes. We assessed age at presentation, gender, parental consanguinity, clinical manifestations, neuroimaging findings, enzyme level, and pathogenic or likely pathogenic variants. Clinical data for 32 children with gangliosidosis were analyzed, which included 12 (37.5%) with GM1 gangliosidosis, 8 (25%) with Tay-Sachs disease (TSD), 11 (34.37%) with Sandhoff disease (SD), and 1 AB variant of GM2 gangliosidosis that occurs due to GM2 ganglioside activator protein deficiency. Twenty-four (75%) children were the offspring of consanguineous parents. Thirty-one (97%) had developmental delay. The median age at presentation was 15.5 months. Nine (28.12%) had seizures. Five children (41.6%) with GM1 gangliosidosis and two with SD had extensive Mongolian spots. Ten children with GM1 gangliosidosis (83.3%) had coarse facial features. Cherry red spot was found in 24 out of 32 children (75%). All children with GM1 gangliosidosis and none with TSD had hepato-splenomegaly. Two children (2/8; 25%) with TSD and seven (7/11; 63%) with SD had microcephaly. One child with SD had coarse facies and three did not have hepato-splenomegaly. Neuroimaging findings revealed bilateral thalamic involvement in 20 (62.5%) patients and periventricular hypomyelination in all cases. One child had a rare AB variant of GM2 gangliosidosis. GM2 Gangliosidoses are more common compared with GM1 variety. All of them had infantile onset except one child with TSD. Microcephaly can be present while usually megalencephaly is reported in the literature. The absence of hepato-splenomegaly does not rule out SD. Extensive Mongolian spots can be seen in GM2 gangliosidosis. AB variant of GM2 gangliosidosis should be considered when the enzyme is normal in the presence of strong clinical suspicion.
    Materialart: Online-Ressource
    ISSN: 2146-4596 , 2146-460X
    URL: Article
    DOI: 10.1055/s-0040-1718726
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2022
    ZDB Id: 2660767-0
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  • 6
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    Etiological Evaluation of Global Developmental Delay
    Springer Science and Business Media LLC ; 2020
    In:  The Indian Journal of Pediatrics Vol. 87, No. 3 ( 2020-03), p. 224-224
    Details
    In: The Indian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 87, No. 3 ( 2020-03), p. 224-224
    Materialart: Online-Ressource
    ISSN: 0019-5456 , 0973-7693
    URL: Article
    DOI: 10.1007/s12098-019-03077-1
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2020
    ZDB Id: 2065273-2
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  • 7
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    Nonepileptic Paroxysmal Events (NEPE) in Children
    Springer Science and Business Media LLC ; 2022
    In:  Indian Journal of Pediatrics Vol. 89, No. 1 ( 2022-01), p. 97-97
    Details
    In: Indian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 89, No. 1 ( 2022-01), p. 97-97
    Materialart: Online-Ressource
    ISSN: 0019-5456 , 0973-7693
    URL: Article
    DOI: 10.1007/s12098-021-03944-w
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2022
    ZDB Id: 2065273-2
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  • 8
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    Aicardi-Goutieres Syndrome Presenting with Congenital Glaucoma
    Springer Science and Business Media LLC ; 2020
    In:  The Indian Journal of Pediatrics Vol. 87, No. 8 ( 2020-08), p. 652-652
    Details
    In: The Indian Journal of Pediatrics, Springer Science and Business Media LLC, Vol. 87, No. 8 ( 2020-08), p. 652-652
    Materialart: Online-Ressource
    ISSN: 0019-5456 , 0973-7693
    URL: Article
    DOI: 10.1007/s12098-020-03196-0
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2020
    ZDB Id: 2065273-2
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  • 9
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    Profile of Indian Children with Childhood Ataxia and Central Nervous System Hypomyelination/Vanishing White Matter Disease: A Single Center Experience from Southern India
    Georg Thieme Verlag KG ; 2021
    In:  Journal of Pediatric Genetics Vol. 10, No. 03 ( 2021-09), p. 205-212
    Details
    In: Journal of Pediatric Genetics, Georg Thieme Verlag KG, Vol. 10, No. 03 ( 2021-09), p. 205-212
    Kurzfassung: Background 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 (eIF2B). Methods 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. Results Total number of children with CACH enrolled were 18. Male/female ratio was 10:8. Mean age of presentation was 37.11 months (range =  6–144 months). Affected siblings were seen in five (28%) cases. All children had spasticity, ataxia, and diffuse white matter changes with similar signal as cerebrospinal fluid on all pulse sequences on MRI brain. Of the 18 children, only nine are alive. Duration of illness among deceased children was 9.6667 months (range = 2–16 months). Waxing and waning of symptoms were seen in seven cases. Genetic analysis of EIF2B gene was performed in five cases, among which three mutations were novel. Conclusion A diagnosis of childhood ataxia with central nervous system hypomyelination should be considered in patients presenting with acute onset neuroregression following infection or trauma with associated neuroimaging showing classical white matter findings.
    Materialart: Online-Ressource
    ISSN: 2146-4596 , 2146-460X
    URL: Article
    DOI: 10.1055/s-0040-1714717
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2021
    ZDB Id: 2660767-0
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  • 10
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    The Clinical, Laboratory, Etiological Profile and Outcome of Acute Necrotizing Encephalitis of Childhood (ANEC) in Tertiary Care Centre from Southern India
    Georg Thieme Verlag KG ; 2023
    In:  Journal of Pediatric Neurology Vol. 21, No. 05 ( 2023-10), p. 341-346
    Details
    In: Journal of Pediatric Neurology, Georg Thieme Verlag KG, Vol. 21, No. 05 ( 2023-10), p. 341-346
    Kurzfassung: Acute necrotizing encephalitis of childhood (ANEC) is characterized by respiratory or gastrointestinal infection and high-grade fever accompanied by rapid alteration of consciousness and onset of seizures. Diagnosis is based on clinical presentation and characteristic neuroimaging features. The aim of this study was to report the etiological, clinical, and radiological findings and therapeutic outcomes of ANEC. This is a retrospective chart review of children aged 1 month to 18 years diagnosed with ANEC, from January 2017 to May 2022 at a tertiary care center in Bangalore, India. Of 36 patients, 17 were males, with age ranging from 10 months to 15 years. Major presenting complaints were altered sensorium in 36 (100%), fever in 33 (91.6%), and seizures in 27 (75%). The etiologies included dengue and chikungunya in 2 (5.5%) cases, Japanese encephalitis, influenza, and RAN binding protein 2 (RANBP2) in 1 (2.7%) case each, and unknown in 29 (80.5%) cases. Common findings of the magnetic resonance imaging (MRI) of the brain were abnormal signals in thalami in 20/20 (100%) and in brainstem in 11/20 (55%). Computed tomography (CT) of the brain done in all 16 cases showed thalamic hypodensities. All patients received empiric antibiotics, antivirals, and intravenous methylprednisolone. The modified Rankin scale showed excellent outcomes in 19/25 (76%), 3 were bedridden (8.3%), and 3 died (8.3%). ANEC is common in children under 5 years of age (76.7%). Altered sensorium, fever, and seizures were the main presenting symptoms. Genetic testing must be done in case of family history and recurrence. CT brain is also very useful in an emergency setup; MRI brain can be useful to suspect and prognosticate.
    Materialart: Online-Ressource
    ISSN: 1304-2580 , 1875-9041
    URL: Article
    DOI: 10.1055/s-0043-57244
    Sprache: Englisch
    Verlag: Georg Thieme Verlag KG
    Publikationsdatum: 2023
    ZDB Id: 2130673-4
    Standort Signatur Einschränkungen Verfügbarkeit
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