Acute disseminated encephalomyelitis (ADEM) is a rare disease of central nervous system with myriads of presentation. It is a diagnosis of exclusion and relies on neuroimaging which may be normal at the onset. It is a diagnostic challenge at its first attack. Here we present a case of ADEM which initially presented with atypical feature and normal neuroimaging but later turned out to be a case of ADEM. Early diagnosis and treatment holds the key for favorable outcome.
We describe an unusual case of severe combined immunodeficiency (SCID) with neutropenia and central nervous system (CNS) manifestations in which a novel RAG1 mutation was identified. A 15-month-old boy presented with failure to thrive, neutropenia and recurrent infections. He was diagnosed with T-B-NK+ SCID. He subsequently developed right partial seizures with ipsilateral hemiparesis and became comatose. Magnetic resonance imaging (MRI) of the brain revealed an inflammatory lesion in the left thalamus which later progressed to diffuse meningo-encephalitis on serial imaging. No CNS infection was documented. Genetic work-up in the child revealed a novel homozygous deleterious mutation in the RAG1 gene (c:2881T>C; p:I794T), for which both parents were heterozygous. He underwent a haploidentical bone marrow transplant without conditioning and died on day +35 with no improvement in his neurological status. The features of neutropenia and progressive encephalopathy could be linked to the novel genetic defect but more data is required to establish this conclusively.
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