Neurodevelopmental disorder with involuntary movements associated with the wars2 Gene in infant: a case report

Case presentation: A 15-month-old girl evolved with fever and tremors associated ataxy after vaccination of hepatitis A, DTP, OPV y tetraviral. She was born via cesarean, uneventfully. Parents are consanguineous. Her mother had Specific Hypertensive Pregnancy Disease (SHPD) during pregnancy. No history previous hospitalizations, regular medications, allergies. Neuropsychomotor development (NPMD): she sat at 6 months, babbles waves, didn’t walk but stood support by 12 months. The cranial magnetic resonance imaging (MRI), electroencephalogram (EEG), cerebral spinal fluid were normal. Diagnostic hypothesis: acute cerebellitis. An intravenous combination ceftriaxone acyclovir given for 10 days, evolving an improvement in tremors. It prescribed clonazepam ambulatorial use. After 3 the began again, getting worse ataxia. Physical exam: without trunk support; decreased muscle strength lower upper limbs (LL. UP.), hypertonia, reflexes, distal clonus LL.; tongue chin Genetic analysis, Next Generation Sequencing (NGS), Movement Program, identified compound homozygous mutations WARS2 gene, being paternally inherited missense variant: c.754C>T, (p.Arg252Cys) uncertain significance.