ABSTRACT
Mucopolysaccharidosis (MPS) is an inherited metabolic disorder of childhood, characterised by progressive multisystem involvement predominantly affecting the skeletal system leading to skeletal dysplasia. Mental retardation, neuropathy and cardiomyopathy may occur in the most severely affected patients, leading to progressive disability and death in their early third to fourth decades. The purpose of this paper is to illustrate the typical imaging features of different types of MPS, in particular the MR features of the brain and spine in MPS, which are expected to be encountered by radiologists more frequently in their clinical practice as a result of prolonged life expectancy for those with MPS with recent advances in therapeutic interventions. The treatment options and outcomes for MPS patients are also briefly discussed.
Subject(s)
Bone Diseases, Developmental/diagnosis , Magnetic Resonance Imaging/methods , Mucopolysaccharidoses/diagnosis , Bone Diseases, Developmental/classification , Child , Child, Preschool , Enzyme Therapy/methods , Female , Humans , Male , Mucopolysaccharidoses/classificationABSTRACT
OBJECTIVES: This is a retrospective institutional review of clinical data and radiological findings of cerebral malaria patients presenting to a tertiary centre in India, which is an known to be endemic for malarial disease. METHODS: The present series describes MRI in four cases all of which revealed bithalamic infarctions with or without haemorrhages in patients with cerebral malaria, and this review examines a subset of patients with this condition. In addition, acute haemorrhagic infarctions were also seen the in brain stem, cerebellum, cerebral white matter and insular cortex in two of the four patients. RESULTS: In this series, the patient with cerebellum and brain stem involvement died. The remaining three survived with antimalarial and supportive treatment. No neurological symptoms were noted on clinical follow-up. MRI follow-up was obtained in only one of the three patients (3 months post-treatment) and showed resolution of thalamic infarctions. CONCLUSION: These imaging features may help in the early diagnosis of cerebral malaria so that early treatment can begin and improve the clinical outcome.
Subject(s)
Brain Infarction/diagnosis , Magnetic Resonance Imaging , Malaria, Cerebral/diagnosis , Adult , Female , Humans , Male , Middle Aged , Retrospective StudiesABSTRACT
The objective of this work is to describe the imaging findings, clinical profile and treatment response in four Chinese adolescent patients presenting with ectopic germinoma arising from basal ganglia. The clinical presentation, treatment regimens and the imaging findings at presentation and after treatment were described upon retrospective review of four Chinese adolescent patients. CT of the brain showed mixed solid cystic mass lesions in three patients. In one patient, only ill-defined hyperdensity was noted in the affected basal ganglia. Correlative MRI brain studies showed similar findings of large solid cystic masses in three patients, whereas the fourth patient showed small hyperintensities on T2 weighted and fluid-attenuated inversion-recovery sequences. All lesions were confirmed to be germinomas on biopsy. Chemotherapy followed by radiotherapy was given to three patients. There was a dramatic response, with complete resolution of tumour bulk in two patients and >80% reduction in tumour bulk in one patient. Debulking surgery was performed in one subject who had received cranial radiotherapy; the last follow-up MRI showed no evidence of residual disease.
