There is a huge lacunae in the delivery of palliative care services and hence an urgent need to inculcate targeted curriculum to provide focused skills and training for the pediatric postgraduates.
Acute lymphoblastic leukemia (ALL) presented with bone pain and leukopenia is a well-recognized complex. Bone and joint pain are seen as presenting symptoms in 25% of patients with acute leukemia, but generalized osteopenia and vertebral complications are less common. Back pain due to vertebral changes as an early feature has been infrequently reported. We report a case of a 9-year-old female child who presented with back pain for 3 weeks. Blood counts and peripheral smear were normal. X-ray of the spine showed wedge-shaped deformity in L3–L5 vertebrae. Magnetic resonance imaging of the spine confirmed the lytic lesions of L3–L5 vertebrae. Infective etiological evaluation was normal. Bone marrow aspiration revealed pre-B-cell lymphoblastic leukemia. She was started on ALL protocol and pain subsided within a week, and remodeling of the bony lesions could be seen 2 months later. This case highlights that spinal involvement may be a presenting feature despite normal peripheral blood counts.
Pediatric residents should compulsorily be exposed to all subspecialties during their post-graduation. Adequate career guiding and exposure to various subspecialties will make the residents pursue subjects like Pediatric Nephrology, Hemato-oncology, Developmental Pediatrics and Hepatology which have less takers.
exon-2 (c.410C>T) leading to CTLA-4 haplo-insufficiency suggestive of ALPS-Type-V. Child was started on steroids 2 mg/kg/d and Sirolimus (titrated to levels 8-12 ng/L). He is doing well with regression of lymphadenopathy/splenomegaly and normal counts.CTLA-4 haploinsufficiency with Autoimmune Infiltration (CHAI), due to haplo-insufficiency of CTLA-4 inhibitory T-cell receptor leads to severe immune dysregulation and lymphocytic infiltration of organs including but not limited to lungs, brain and gastro-intestinal system [2]. CHAI, common in older children and young adults, has predisposition to develop lymphoma due to hyperproliferation of lymphocytes [3]. Steroids, Sirolimus and Mycophenolate mofetil are main-stay of therapy; Abatacept, competing with CD-28 inhibiting co-stimulatory signalling and T-cell activation is effective. Allogeneic stem cell transplantation is rarely necessary [4].High index of suspicion and judicious use of clinical exome sequencing help to characterize these rare disorders better.
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