ABSTRACT
A 19-year-old Thai woman presented with progressive ataxia and generalized tonic-clonic seizures. Later on, she developed status epilepticus. Blood was tested by molecular DNA analysis which showed A8344G mitochondrial DNA mutation associated with myoclonic epilepsy with ragged-red fibers (MERRF). We confirmed this finding in other members of this family. This is an interesting case report in Thailand of MERRF identified to have A-->G transition mutation at nucleotide 8344 of mitochondrial tRNA(lys) gene without ragged-red fibers from histopathologic studies of muscle. Molecular genetic analysis in suspicious cases of mitochondrial disorders is necessary for proper management and genetic counseling.
Subject(s)
Adult , DNA Mutational Analysis , DNA, Mitochondrial/analysis , Diagnosis, Differential , Female , Humans , MERRF Syndrome/diagnosisABSTRACT
A 4-month-old infant came to the department of Ophthalmology, King Chulalongkorn Memorial Hospital with right eye proptosis, strabismus, and no vision. She was diagnosed as optic nerve and chiasm glioma. The subtotal removal of the tumor was performed and followed by chemotherapy, with a satisfactory result. Because of the large size of the tumor and the presenting symptoms and signs since the patient was only 2 month old, we believe that this tumor originated in the intrauterine period. To our knowledge, this reported case is the youngest patient with optic nerve and chiasm astrocytoma in Thailand.
Subject(s)
Antineoplastic Agents/administration & dosage , Biopsy, Needle , Combined Modality Therapy , Female , Follow-Up Studies , Glioma/diagnosis , Humans , Infant , Neurosurgical Procedures/methods , Optic Nerve Neoplasms/diagnosis , Thailand , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
A unique case of nosocomial aspergillosis following neurosurgery in a 10 year old girl was documented. She presented with intracerebral hemorrhage after three weeks of operation for evacuation of craniopharyngioma. To our knowledge, this is the first reported case of intracerebral hemorrhage due to nosocomial aspergillosis following neurosurgery.