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5.
Saudi J Kidney Dis Transpl ; 32(4): 1176-1179, 2021.
Article in English | MEDLINE | ID: mdl-35229821

ABSTRACT

Wolfram syndrome (WFS) is a rare autosomal recessive disorder which manifests with diabetes mellitus, diabetes insipidus (DI), optic atrophy, and deafness. Central DI is a late presentation of the disease which may rarely present with renal tract anomalies and recurrent urinary infections instead of classical symptoms. We report a family of three siblings with WFS with early onset of central DI and renal tract abnormalities indicating need to suspect and manage these conditions early.


Subject(s)
Diabetes Insipidus , Optic Atrophy , Urinary Tract Infections , Wolfram Syndrome , Humans , Optic Atrophy/diagnosis , Pancreas , Urinary Tract Infections/complications , Urinary Tract Infections/diagnosis , Wolfram Syndrome/diagnosis
6.
Indian J Pediatr ; 86(8): 681-685, 2019 08.
Article in English | MEDLINE | ID: mdl-30976964

ABSTRACT

OBJECTIVE: To study the clinico-etiological profile of epilepsy in children aged 1-24 mo attending a tertiary-care public hospital. METHODS: All infants aged 1-24 mo with epilepsy (as per International League Against Epilepsy, 2014) presenting between April 2016 and March 2017 were enrolled. Detailed history and examination were done in all children, and developmental assessment was done using Developmental Assessment Scale for Indian Infants (DASII). Electroencephalography and neuroimaging (CT/MRI) were done for all subjects. RESULTS: Sixty children (39 males) were consecutively enrolled after informed written consent. The mean (SD) age at seizure onset was 4.3 (4.14) mo. Perinatal asphyxia (45%) and malformations of cortical development (18.3%) were the commonest etiologies. Neurological examination was abnormal in 68.3%, and a neuroimaging abnormality was present in 76% of children. Fifteen patients (25%) had West syndrome, which was symptomatic in the majority (73.3%). Developmental delay (DQ < 70) was the commonest co-morbidity (81.7%); 28.3% had profound delay. Odds of having developmental delay were 13-times higher in those with an abnormal neurological examination [OR 13.5 (2.82-64.67), P = 0.001], and nearly 9-times higher with abnormal neuroimaging [OR 8.9 (2.11-37.9), P = 0.003]. CONCLUSIONS: Epilepsy in children <2 y is symptomatic in the majority, with sequelae of birth asphyxia as the commonest etiology. High prevalence of co-morbid developmental delay underscores the need for routine evaluation and early intervention in all high-risk infants.


Subject(s)
Developmental Disabilities/diagnosis , Developmental Disabilities/etiology , Epilepsy/complications , Electroencephalography , Female , Humans , India , Infant , Male , Neuroimaging , Prospective Studies , Risk Factors
7.
Indian J Pediatr ; 85(2): 108-112, 2018 02.
Article in English | MEDLINE | ID: mdl-28914422

ABSTRACT

OBJECTIVE: To determine the normative data for inferior vena cava (IVC) diameter in children and its correlation with various somatic parameters like height, weight and body surface area in Indian children. Readily available baseline data of IVC diameter in normal children shall be of great help in rapid assessment of variations in sick children. METHODS: Total 475 healthy children aged one month to 12 y visiting out patient clinics (OPD's) were enrolled in this study. Weight, height and body surface area were calculated at the time of examination. The maximum and minimum diameters of IVC were measured during the expiratory and inspiratory phase of the respiratory cycle respectively using M mode ultrasonography. Collapsibility Index was also calculated for each subject by measuring difference between the maximum (expiratory) and minimum (inspiratory) IVC diameters divided by the maximum diameter. RESULTS: The mean age of study subjects was 4.72 ± 3.72 y. Out of 475 subjects, 285 (60%) were boys and 190 (40%) were girls. Mean weight for age (%) of subjects was 89.18 ± 13.26%. Correlation was studied between physical parameters and IVC diameter which revealed a positive correlation of age, height and weight with both maximum and minimum IVC diameter. Regression analysis was also performed to derive the equations for maximum and minimum diameters of children from 1 y to 12 y. CONCLUSIONS: This study provides reference values of IVC diameters for Indian children of different age groups.


Subject(s)
Vena Cava, Inferior/anatomy & histology , Age Factors , Body Height , Body Surface Area , Body Weight , Child , Child, Preschool , Echocardiography , Female , Humans , India , Infant , Infant, Newborn , Male , Reference Values , Sex Factors , Vena Cava, Inferior/diagnostic imaging
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