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.
Background:
The present study reports myeloablative total body irradiation (TBI) on an isocentrically mounted linac by laying the patient on the floor and management of abutting radiation fields and partial shielding of lungs. Dosimetrical efficacy of this novel technique was evaluated.
Materials and methods:
In this retrospective study, dosimetrical parameters from TBI plans on whole-body CT scans of 46 patients were analysed. The prescribed dose to TBI was 12 Gy in six fractions delivered over a period of 3 days for myeloablative conditioning. TrueBeam STx platform Linac (Varian Medical Systems Inc., Palo Alto, CA, USA) was used to deliver opposing fields. Radiation fields were abutted to form a single large field using an arithmetic formula at source-to-skin-distance of 210 cm.
Results:
Discrepancies in dose calculated by treatment planning system were within 1·6% accuracy, and dose profile at the junction of abutting radiation fields was reproduced within 3·0% accuracy. The real treatment time for each patient was ~30 minutes/fraction. Monitor unit was weighted for multiple sub-fields to achieve dose homogeneity within 5·0% throughout the whole body, and the mean dose to lung was ≤10 Gy.
Conclusion:
Our abutting radiation field technique for myeloablative TBI is feasible in any existing linac bunker. ‘Island-blocking’ is feasible in this technique using multi-leaf collimator. This technique is cost-effective as it does not require any costly equipment than the readily available equipment in any radiotherapy facility. In general, TBI requires laborious planning procedures and spacious linac bunkers; this novel technique has the potential to change previously held notions.
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