Paraparesis, leucodystrophy and brain atrophy are neurological manifestations of congenital immunodeficiency disease? / 中华实用儿科临床杂志

ABSTRACT

A 4-year-old boy complained of weakness of the lower limbs for one and a half month.The child had been diagnosed as X-linked agammaglobulinemia (XLA) at 1-year old.In recent one and a half month,he gradually suffered from activity intolerance and fatigue,inability to jump and run,staggering gait and slow speech.All the symptoms above indicated deteriorating motor function.The brain magnetic resonance imaging revealed abnormal signals in white matter and brain atrophy.The cerebrospinal fluid analysis detected the presence of oligoclonal immunoglobulin G band.In short term after intravenous immunoglobulin and methylprednisolone treatment,the boy's lower extremity function and speech speed were slightly improved.However,at 1-year follow-up,the boy's condition became even worse.The child could not sit without support and had difficulty in swallowing.The child could not speak or follow any commands.Neurological examination revealed spastic quadriplegia and pseudobulbar palsy.Progressive neurodegeneration is not a common syndrome in patients with XLA.Brain biopsy is an important approach clinically to find out etiology.