Systemic mastocytosis: A rare differential diagnosis to be considered in pediatric patients presenting with cutaneous mastocytosis and seizures

astocytosis is a rare disorder characterized by clonal proliferation and accumulation of mast cells in different organs, leading to varying clinical pictures.Cutaneous mastocytosis or urticaria pigmentosa involves only skin and affects pediatric patients.Systemic mastocytosis is seen mainly in adults and affects multiple organs including the brain [1].We are reporting the case of a 3 year-old-girl who presented with four episodes of seizures over a period of 3 months.She had brownish macules and infiltrated plaques with severe itching, redness, and blistering over the face, trunk, and legs for 3 months of age.A family history of seizures was present.On examination Darier's sign and antinuclear antibody were positive.The seizure was diagnosed as early-onset occipital lobe epilepsy.Magnetic resonance imaging brain showed focal abnormal sulcation with cortical thickening in the left postero-inferior parietal region adjacent to the parieto-occipital sulcus.ASL perfusion map showed subtle asymmetric perfusion in the corresponding region.An intermittent spike and sharp wave discharge over the left frontocentral region was seen in electroencephalogram.Skin lesions were biopsied and microscopy revealed reticular dermis with loose sheet of mast cells with oval or round elongated nuclei and granular cytoplasm dissecting dermal collagen bundles in deeper dermis suggestive of cutaneous mastocytosis (Fig. 1).In view of cutaneous mastocytosis with seizure, a differential diagnosis of systemic mastocytosis was considered.She was managed with lorazepam 1.2 mg intravenously, sodium valproate 240 mg slow intravenous infusion over 1 h followed by 100 mg intravenously twice daily, and phenytoin 30 mg intravenously twice daily for control of seizures along with ketotifen for cutaneous lesions.After initiation of these treatment modalities, her condition improved and there were no further episodes of convulsion.Further investigations for diagnostic confirmation of systemic mastocytosis with bone marrow and immunohistochemistry studies are awaited.Cutaneous mastocytosis usually has a benign presentation.Systemic mastocytosis, an aggressive form of the disorder,