Abstract
Background and Aim: Primary Microcephaly is also associated with at least 7 gene loci, and 7single etiologic genes have been identified. Acquired microcephaly can be seen in conditions such asrett, seckel, and angel syndromes and encephalopathy syndrome associated with severe seizuredisorders. Hence the study was done to assess the clinical profile of microcephaly in children.Materials and Methods: A total of 104 children were included in the study. The children weredivided into different groups as per age distribution. Group A consist of children of age less than 1year, in group B there were children between age 1 – 5 years, in group C the age of childrenincluded was 5 to 10 years and in group D the age of children was more than 10 years. Results:There were 30 children with microcephaly in group A, in group B there were 52 children withmicrocephaly. For group C there were 20 children with microcephaly and for group D there were 2children with microcephaly. The maximum numbers of children were in the age group of 1 to 5years. Conclusion: Microcephaly is a frequent clinical sign which is common in many of the rarediseases, henceforth, as the exact diagnosis is important for counseling the patient and the affectedfamily, regarding the clinical course, possible complication, optimized medical support, and recurrentrisk.
Highlights
The children presenting with the symptom of microcephaly who attended the outpatientMicrocephaly is a descriptive term that refers to a cranium that is significantly smaller than the standard for the individuals age and sex [1]
Microcephaly is a frequent clinical sign which is common in many of the rare diseases, as the exact diagnosis is important for counseling the patient and the affected family, regarding the clinical course, possible complication, optimized medical support, and recurrent risk
There's no treatment for microcephaly, All the children from age 6 months to 12 years who were satisfied with the presence of microcephaly as a symptom were included in the study
Summary
The children presenting with the symptom of microcephaly who attended the outpatient. Acquired microcephaly can be seen in conditions tape for all the children included in the study Such as rett, seckel, and angel syndromes and encephalopathy syndrome associated with severe seizure disorders. The current study shows that all the cases with congenital brain malformation had microcephaly since birth, clinically associated with hypertonia, hyperreflexia, GDD. This was similar to the study conducted by Herm Siegal and Poirer et al As Zanelli et al have found there is a considerably high rate of morbidity and mortality due to perinatal asphyxia, which is still a major concern, as per his study (21.8%) were diagnosed as HIE or cerebral palsy, which presented with microcephaly and had a significant postnatal history. Prevalence of metabolic disorder with microcephaly in the present study was 2 that is for phenylketonuria, Elham et al have reported a total incidence of (18.8%) in the study conducted reveal metabolic disorder as a cause of microcephaly, which was the largest number about other studies, among the metabolic disorder presented with microcephaly were phenylketonuria and methylmalonic aciduria [12]
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