Subject(s)
Encephalitis, Viral/diagnosis , Encephalitis, Viral/pathology , Enterovirus Infections/diagnosis , Enterovirus Infections/pathology , Enterovirus/isolation & purification , Antibodies, Neutralizing/blood , Antibodies, Viral/blood , Brain/diagnostic imaging , Brain/pathology , Echoencephalography , Encephalitis, Viral/mortality , Enterovirus Infections/mortality , Fatal Outcome , Female , Humans , Infant, Newborn , Magnetic Resonance Imaging , PregnancyABSTRACT
Post-transplant lymphoproliferative disorder (PTLD) in the central nervous system (CNS) has a poor prognosis. New therapeutic approaches should be explored. We report our experience with intrathecal administration of rituximab in a 10-year-old kidney allograft recipient with PTLD in the CNS. After standard treatment had failed, we tried to treat the patient by administering rituximab directly into the cerebral ventricle through an Omaya reservoir, in addition to conventional intrathecal and systemic chemotherapy. This strategy resulted in a disappearance of clinical symptoms and a negative positron emission tomogram. Intrathecal administration of rituximab may be a feasible approach in children with PTLD in the CNS. However, its specific role in our patient remains uncertain.
Subject(s)
Antibodies, Monoclonal/administration & dosage , Antineoplastic Agents/administration & dosage , Brain Neoplasms/drug therapy , Kidney Transplantation/adverse effects , Lymphoma, Large B-Cell, Diffuse/drug therapy , Antibodies, Monoclonal, Murine-Derived , Brain Neoplasms/virology , Child , Epstein-Barr Virus Infections/complications , Female , Humans , Injections, Intraventricular , Injections, Spinal , Lymphoma, Large B-Cell, Diffuse/virology , Nephrotic Syndrome/surgery , Postoperative Complications , RituximabABSTRACT
The characteristic clinical presentation, especially the appearance of muscle symptoms, is quite unique in children carrying the mtA8344G mutation. The diagnosis of MERRF syndrome is seldom made in the pediatric age. Fatigue is a common finding in children of pubertal age. Fatigue in combination with recurrent resting muscle pain occurs frequently in the initial phase of various hereditary muscle disorders and in several autoimmune, endocrine and metabolic syndromes. In the absence of obvious biochemical/metabolic abnormalities and in the lack of neurological symptoms the complaints are frequently labelled as fibromyalgia or chronic fatigue syndrome. In patients with behavioural or psychiatric abnormalities one might even start to question the organic etiology of the complaints. We describe a family carrying the classic MTTK mutation with a variable degree of heteroplasmy, presenting in childhood as isolated recurrent muscle pain as the first symptom of the disease.
