Ghosal Type Hematodiaphyseal Dysplasia (GHDD) is an autosomal recessive disorder characterized by metadiaphyseal dysplasia, defective hematopoiesis and steroid sensitive anemia. The diagnosis of this rare syndrome is important as early diagnosis helps in initiation of treatment leading to improvement in anemia and bony changes. Herein, we report two cases where the diagnosis was confirmed by mutation analysis. Treatment typically involves steroid therapy. Both our cases were started on steroids after which haemoglobin & other counts have normalized.They need very low dose steroids to maintain normal hemoglobin and counts.

Background: Disseminated juvenile xanthogranuloma (JXG) and central nervous system (CNS) involvement has unfavorable outcome. Observation: A 3.5-year-old presented with headache, left hemiparesis of 2 weeks duration and encephalopathy, polyuria, polydipsia of > 6 months, multiple skin lesions from infancy, diagnosed as JXG with diabetes insipidus. Regression for >2 years was observed with Langerhans Cell Histiocytosis (LCH)-III protocol, desmopressin. Relapse after six months off-treatment was treated with LCH-IV protocol, later with salvage regimen; maintenance therapy for a year and now in remission for > 6 years. Conclusions Good neurological outcome is possible in chemo sensitive JXG is despite extensive CNS lesions.