Global developmental delay (GDD) is a relatively common pediatric issue. It can have plethora of causes. Early intervention in these children by finding the cause of developmental delay is often challenging but can definitely improve ultimate developmental outcome. The study was undertaken to study the clinical profile of children with GDD to assess the etiology of delay in these children. The study was performed in the Department of Pediatrics, SMS Medical College, Jaipur, from June 2014 to May 2015. One hundred sixty-eight children with GDD attending the child development clinic with age ≤ 5 years and development quotient < 70% were enrolled. After detailed clinical history and thorough examination, specific investigations were obtained. Data analysis was done to determine the underlying etiology. Out of 168 children studied, etiology was detected in 155 (92.3%). Most common etiology was perinatal insult (63.1%) followed by genetic (8.93%), postnatal (7.14%), metabolic (5.95%), mixed (2.98%), cerebral dysgenesis (2.38%), and congenital infections (1.79%). Microcephaly was present in 100 children. Most common etiology was found to be perinatal insult, which is a preventable cause to much extent. Newer and sophisticated investigations such as metabolic profile, genetic studies should be incorporated in the planned investigations to increase the diagnostic yield.
The entire world is coping up with the challenges imposed by COVID-19 pandemic caused by a novel coronavirus, which started from a single case in Wuhan city of China in November 2019. Its outcomes range from asymptomatic cases to most severe diseases like severe acute respiratory syndrome. Neurological manifestations have also been reported as an outcome of coronavirus infection and Guillain–Barre Syndrome (GBS) is one of them. In our present case, we describe the correlation of GBS with subclinical SARS-CoV-2 in a pediatric patient. The patient was successfully managed with intravenous immunoglobulin and physiotherapy. In the current pandemic, any case of GBS should be evaluated for recent or remote SARS-CoV-2 infection.
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. Case details including analysis of clinical history, investigations, and outcomes are presented. Of six cases, male-to-female ratio was 4:2. Mean age of presentation was 35.5 months (range: 14–83 months). Consanguinity, global developmental delay, failure to thrive, skin rashes, microcephaly, hypotonia, and exaggerated deep tendon reflexes were observed in all cases. Chronic diarrhea was presented in five cases. The serum levels of C4 carnitine and urinary levels of ethylmalonic acid were increased in all cases. Magnetic resonance imaging (MRI) of the brain showed heterogenous bilateral symmetrical changes in the basal ganglia in five cases, and in one case, MRI could not be done. Genetic testing in two cases showed a homozygous variant in ETHE1 gene. Four children died, while the other two cases showed a decreased in recurrent encephalopathies and diarrhea after starting metronidazole. All children had global developmental delay, failure to thrive, skin rashes, central hypotonia, increased C4 carnitine levels in the serum, and increased ethylmalonic acid in the urine. Chronic diarrhea, acrocyanosis, and basal ganglia change in the MRI of the brain also give important clues for diagnosis. Metronidazole is useful in preventing recurrent episodes of encephalopathy.
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