Abstract

A 9 month old boy presented with history of delayed attainment of milestones. He was born to a primigravida mother, with an uneventful perinatal period, but had a low birth weight (2.1 kg) for gestational age. There was no history of seizures, abnormal movements, loss of previously gained milestones or prior sibling deaths. On examination, he had severe microcephaly, failure to thrive and hepatosplenomegaly. Neurological examination revealed severe axial hypotonia and spastic quadriplegia with brisk deep tendon reflexes and intermittent scissoring of lower limbs. Fundus examination and hearing evaluation were normal. His current developmental age was 4 months and developmental quotient was 30.

Highlights

  • Investigations revealed anemia, thrombocytopenia with elevated transaminase

  • A 9 month old boy presented with history of delayed attainment of milestones

  • He was born to a primigravida mother, with an uneventful perinatal period, but had a low birth weight (2.1 kg) for gestational age

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Summary

Introduction

Investigations revealed anemia, thrombocytopenia with elevated transaminase. Neuroimaging revealed hyperintensities in periventricular white matter on T2/FLAIR weighted images (Fig 1). A 9 month old boy presented with history of delayed attainment of milestones. He was born to a primigravida mother, with an uneventful perinatal period, but had a low birth weight (2.1 kg) for gestational age. There was no history of seizures, abnormal movements, loss of previously gained milestones or prior sibling deaths.

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