Context:
Several Enzymes carry out chemical reactions for the production of energy and carrying out normal functioning of the organism. Disorders of these functions can result in permanent damage to the child affecting multiple systems. Most metabolic disorders are at least controllable and therefore it is important to recognize them early for ensuring optimum growth and development. This involves proper pattern recognition by the clinician.
Aims:
In this study we are discussing a rare treatable metabolic disorder namely Hyperargininemia seen by the authors in the last seven years.
Settings and Design:
Various parameters of confirmed hyperargininemia patients were analysed.
Methods and Material:
It is a descriptive study where all patients were confirmed cases with red blood cell arginase levels <10.
Statistical Analysis used:
Descriptive statistical analysis, Mann-whitney test, spearman’s rho.
Results:
In this study we found consanguinity in 30 % of patients. At least one sibling was affected in 13 % of patients. Females were more in this group though the pattern remains AR. Symptom onset showed variability from less than 1 year to up to 17 years. Commonest clinical feature was cognitive dysfunction, spasticity, seizures, microcephaly and lesser number with extrapyramidal and cerebellar features. Failure to thrive and dysmorphic features were also seen.
Conclusion:
Hyperargininemia commonly manifests as regression, failure to thrive, spasticity, seizures with or without microcephaly. When the above phenotype is seen, it is mandatory to screen for urea cycle disorders.
Introduction:
White matter signal changes are common in wide spectrum of disorders other than primary demyelinating diseases. Knowledge into their characteristics is of great relevance as treatment options are available in most cases, if diagnosed early.
Patient and methods:
Patients both children and adults who showed radiological evidences of leukoencephalopathy which was not due to primary demyelinating disorders were evaluated in detail.
Results:
There were a total of 55 patients in the last 2 years. 58% patients were <10 years, 16% were <20years, 9% were <30 years and the rest of the patients were 40 and above. Commonest condition was ALD, followed by SSPE and Unclassified group. There were 3 cases each of MLD, Krabbe’s, Vanishing White Matter Disease and Hypomyelination.
Discussion and Conclusion:
White matter disorders belong to a wide spectrum of illnesses which varies from degeneration to a spectrum of other disorders. Correlating the clinical, radiological and other laboratory data are mandatory for proper diagnosis. Those who belong to older age with shorter duration and uncharacterized radiological features suffered from acquired treatable causes.
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