PYCR2 Mutation Causing Hypomyelination and Microcephaly in an Indian Child.
Preeti Srivastava1, Asit Kumar Mishra1, Nilanjan Sarkar2
1Pediatrics, Tata Main Hospital, Jamshedpur, IND.
Cureus
|May 31, 2021
Summary
Hypomyelinating leukodystrophy (HLD) is a group of genetic disorders affecting myelin formation in the central nervous system. This case highlights a PYCR2 gene mutation causing HLD-10 in a child with developmental delay and microcephaly.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Hypomyelinating leukodystrophy (HLD) comprises genetically diverse disorders characterized by impaired myelin sheath formation in the central nervous system (CNS).
- Clinical presentations often include motor dysfunction, cognitive impairment, and specific MRI findings indicating white matter abnormalities.
Observation:
- A three-year-old boy presented with global developmental delay, dysmorphic features, motor signs, progressive microcephaly, and failure to thrive.
- Initial investigations and metabolic tests were unremarkable.
- Brain MRI revealed hypomyelination, cerebral atrophy, and corpus callosum thinning, with normal cerebellum, brainstem, and deep grey nuclei.
Findings:
- Clinical exome sequencing identified compound heterozygous mutations in the PYCR2 gene.
- The identified genotype correlated with the patient's clinical phenotype, leading to a diagnosis of hypomyelinating leukodystrophy-10 (HLD-10).
Implications:
- Genetic testing is crucial for diagnosing complex neurological disorders with overlapping symptoms.
- Accurate diagnosis of HLD-10 aids in predicting disease course, potential treatments, and prognosis.
- Understanding the genetic basis of HLD is vital for genetic counseling and family planning.
