mycophenolic-acid and Hearing-Loss--Sensorineural

H syndrome is a complex multi-organ disorder with autosomal recessive inheritance. The skin manifestations include early onset hyperpigmentation and hypertrichosis, followed by skin induration often diagnosed as scleromyxedema and morphea. There is no effective treatment. Our objective was to study the efficacy of mycophenolate mofetil in a patient with genetically confirmed H syndrome. We sought the genetic cause of H syndrome with whole-exome sequencing (WES) of the proband. Genome-wide homozygosity mapping (HM) provided additional evidence for causality of the variant suggested by WES. Here, we report a patient with characteristic clinical features of H syndrome, and the diagnosis was confirmed by identification of a homozygous SLC29A3 mutation (p.Gly437Arg). The patient was initially treated with prednisolone and cyclosporine, but after development of side-effects she was placed on mycophenolate mofetil. After the treatment with mycophenolate mofetil was initiated, resolution of hyperpigmentation was noted, and no new lesions developed during an 18-month follow-up period. Thus, mycophenolate mofetil could be considered as a safe and partially effective treatment of H syndrome.

Topics: Female; Hearing Loss, Sensorineural; Histiocytosis; Humans; Immunosuppressive Agents; Mutation; Mycophenolic Acid; Nucleoside Transport Proteins

Myasthenia gravis is among the rare complications after allogeneic hematopoietic stem cell transplantation and is usually associated with chronic GVHD. Herein, we report a 2-year and 10 months of age female with Griscelli syndrome, who developed severe myasthenia gravis at post-transplant +22nd month and required respiratory support with mechanical ventilation. She was unresponsive to cyclosporine A, methylprednisolone, intravenous immunoglobulin, and mycophenolate mofetil and the symptoms could only be controlled after plasma exchange and subsequent use of rituximab, in addition to cyclosporine A and mycophenolate mofetil maintenance. She is currently asymptomatic on the 6th month of follow-up.

Topics: Antibodies, Monoclonal, Murine-Derived; Antineoplastic Agents; Combined Modality Therapy; Cyclosporine; Female; Graft vs Host Disease; Hearing Loss, Sensorineural; Hematopoietic Stem Cell Transplantation; Humans; Immunosuppressive Agents; Infant; Myasthenia Gravis; Mycophenolic Acid; Piebaldism; Pigmentation Disorders; Plasma Exchange; Remission Induction; Rituximab; Transplantation, Homologous; Treatment Outcome

A 32 year male presented with deafness and other classical symptoms suggestive of SLE. Subsequent serological investigations confirmed the diagnosis. Renal biopsy showed the presence of SLE induced Grade V nephropathy. Patient was started on NIH protocol for lupus nephritis on which he was doing well. After two years, he presented with symptoms of miliary tuberculosis and was started on ATD. Subsequently, he developed ATD induced hepatotoxicity and had to be switched over to Inj. Streptomycin containing regimen. We thought to share this clinical experience, as we found it a challenge to manage tuberculosis in such a setting, where a fine balance had to be maintained between immunosuppression for SLE and therapy of TB, and an ototoxic drug had to be used in a patient with deafness induced by SLE.

Topics: Adult; Antineoplastic Agents; Antitubercular Agents; Biopsy; Hearing Loss, Sensorineural; Humans; Immunosuppression Therapy; Lupus Erythematosus, Systemic; Lupus Nephritis; Male; Mycophenolic Acid; Opportunistic Infections; Prednisolone; Radiography; Treatment Outcome; Tuberculosis, Miliary

Topics: Adult; Autoimmune Diseases; Cyclosporine; Enzyme Inhibitors; Female; Hearing Loss, Sensorineural; Humans; Immunosuppressive Agents; Keratitis; Mycophenolic Acid; Prednisone; Treatment Outcome; Vertigo

Topics: Adult; Cyclophosphamide; Diagnosis, Differential; Diagnostic Errors; Drug Therapy, Combination; Female; Fluorescein Angiography; Fundus Oculi; Glucocorticoids; Hearing Loss, Sensorineural; Humans; Methylprednisolone Hemisuccinate; Mycophenolic Acid; Nervous System Diseases; Prednisone; Retinal Artery Occlusion; Syndrome