Application of autologous bone marrow stem cells in giant axonal neuropathy

• DOI: 10.4103/0019-5359.92487
• Publication Date: 2012-01-31T08:18:20Z
• Authors: Guneet Chopra; Nandini Gokulchan...; Alok Sharma; Pooja Kulkarni
• Keywords: Hematopoietic Stem Cell Transplantation; Bone Marrow Cells; Recovery of Function; Magnetic Resonance Imaging; Risk Assessment; Severity of Illness Index; Transplantation, Autologous; 3. Good health; 03 medical and health sciences; Rare Diseases; Treatment Outcome; 0302 clinical medicine; Giant Axonal Neuropathy; Humans; Female; Child; Injections, Spinal; Follow-Up Studies

Giant axonal neuropathy is a rare disorder of autosomal recessive inheritance, morphologically characterized by accumulation of neurofilaments in enlargements of preterminal regions of central and peripheral axons. We present a 7-year-old girl with thick and tightly curled lackluster hair suffering from giant axonal neuropathy. The diagnosis was confirmed on the brain MRI which showed white matter abnormalities in the anterior and posterior periventricular regions as well as the cerebellar white matter. In view of the same, the patient was given intrathecal autologous bone marrow-derived stem cell therapy as part of the neuroregenerative rehabilitation therapy protocol. The patient showed functional improvements in her disability after receiving the therapy. A detailed case report is presented here with.