Cystic Changes and Optic Nerve Hypertrophy in Early Infantile Neuroregression

Excerpt

To the Editor: A 7-mo-old girl presented with loss of developmental milestones, irritability, seizures, and intermittent tonic stiffening of the body for the past 2 mo. She was apparently normal till 4 mo of age and had neck holding, hand regard, partial roll over, visual fixation and following and responded to sound. Subsequently, she lost all the acquired milestones; had tonic seizures (5–6 episodes/day) and intermittent stiffening and twisting of limbs. She was born to non-consanguineous parents with uneventful perinatal period. There was no family history of similar illness. On examination, she had microcephaly (39 cm, less than 1 percentile), visual inattention, hypotonia, and hyporeflexia. Fundoscopy revealed bilateral optic atrophy. Magnetic resonance imaging (MRI) of the brain showed diffuse white matter involvement with cystic changes (Fig. 1). The nerve conduction studies showed a demyelinating motor-sensory polyneuropathy. Cerebrospinal fluid examination revealed elevated proteins (230 mg/dl, Normal: 15–40 mg/dl) and normal cell counts. Based on the MRI and a deficient galactocerebrosidase enzyme level (1.53 nmol/17 h/mg) in peripheral leucocytes, the diagnosis of Krabbe disease was concluded. She was started on oral levetiracetam (20 mg/kg/d) along with other symptomatic treatment. Parents were counseled about the nature and prognosis of the disease; however they refused for the genetic confirmation.

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