ABSTRACT
ABSTRACT Neurodegeneration with brain iron accumulation (NBIA) represents a heterogeneous and complex group of inherited neurodegenerative diseases, characterized by excessive iron accumulation, particularly in the basal ganglia. Common clinical features of NBIA include movement disorders, particularly parkinsonism and dystonia, cognitive dysfunction, pyramidal signs, and retinal abnormalities. The forms of NBIA described to date include pantothenase kinase-associated neurodegeneration (PKAN), phospholipase A2 associated neurodegeneration (PLAN), neuroferritinopathy, aceruloplasminemia, beta-propeller protein-associated neurodegeneration (BPAN), Kufor-Rakeb syndrome, mitochondrial membrane protein-associated neurodegeneration (MPAN), fatty acid hydroxylase-associated neurodegeneration (FAHN), coenzyme A synthase protein-associated neurodegeneration (CoPAN) and Woodhouse-Sakati syndrome. This review is a diagnostic approach for NBIA cases, from clinical features and brain imaging findings to the genetic etiology.
RESUMO A neurodegeneração com acúmulo cerebral de ferro (sigla em inglês NBIA) representa um grupo heterogêneo e complexo de doenças neurodegenerativas hereditárias, caracterizada pelo acúmulo cerebral de ferro, especialmente nos núcleos da base. O quadro clínico das NBIAs em geral inclui distúrbios do movimento, particularmente parkinsonismo e distonia, disfunção cognitiva, sinais piramidais e anormalidades da retina. As formas de NBIA descritas até o momento incluem neurodegeneração associada a pantothenase kinase (PKAN), neurodegeneração associada a phospholipase A2 (PLAN), neuroferritinopatia, aceruloplasminemia, neurodegeneração associada a beta-propeller protein (BPAN), síndrome de Kufor-Rakeb, neurodegeneração associada a mitochondrial membrane protein (MPAN), neurodegeneração associada a “fatty acid hydroxylase” (FAHN), neurodegeneração associada a coenzyme A synthase protein (CoPAN) e síndrome de Woodhouse-Sakati. Esta revisão é uma orientação para o diagnóstico das NBIAs, partindo das características clínicas e achados de neuroimagem, até a etiologia genética.
Subject(s)
Humans , Neuroaxonal Dystrophies/genetics , Neuroaxonal Dystrophies/diagnostic imaging , Iron Metabolism Disorders/genetics , Iron Metabolism Disorders/diagnostic imaging , Neuroimaging/methods , Mutation , Arrhythmias, Cardiac/genetics , Arrhythmias, Cardiac/diagnostic imaging , Basal Ganglia Diseases/genetics , Basal Ganglia Diseases/diagnostic imaging , Ceruloplasmin/deficiency , Ceruloplasmin/genetics , Coenzyme A Ligases/genetics , Heredodegenerative Disorders, Nervous System/genetics , Heredodegenerative Disorders, Nervous System/diagnostic imaging , Diabetes Mellitus/genetics , Diabetes Mellitus/diagnostic imaging , Alopecia/genetics , Alopecia/diagnostic imaging , Hypogonadism/genetics , Hypogonadism/diagnostic imagingABSTRACT
No abstract available.
Subject(s)
Female , Humans , Middle Aged , Basal Ganglia Diseases/diagnostic imaging , Calcinosis/diagnostic imaging , Calcium/therapeutic use , Dietary Supplements , Hypoparathyroidism/complications , Tomography, X-Ray Computed , Treatment Outcome , Vitamin D/therapeutic useABSTRACT
A previously healthy 16-month-old Korean girl with symptoms of fever, vomiting, and generalized tonic seizure was diagnosed to have Group D non-typhoid Salmonella meningitis. The patient was treated with ceftriaxone (100 mg/kg/day) and amikin (22.5 mg/kg/day) initially and ciprofloxacin (30 mg/kg/day) was added later because of clinical deterioration and disseminated intravascular coagulation. Brain CT performed on the second day showed a well-demarcated low density lesion in the right lentiform nucleus and both caudate nuclei, without evidence of increased intracranial pressure. MRI performed on the 11th day confirmed CT scan findings as well as right subdural fluid collection, brain atrophy, and ventriculomegaly. She underwent subdural drainage and later ventriculo-peritoneal shunt operation. Despite receiving intensive treatment, she still has severe neurologic sequelae. Our case shows that infarctions of basal ganglia and thalami are not specific for tuberculous meningitis and that meningitis complicated by infarction is indicative of grave prognosis.
Subject(s)
Female , Humans , Infant , Basal Ganglia Diseases/diagnostic imaging , Basal Ganglia Diseases/pathology , Basal Ganglia Diseases/complications , Basal Ganglia Diseases/cerebrospinal fluid , Brain/diagnostic imaging , Brain/pathology , Cerebral Infarction/diagnostic imaging , Cerebral Infarction/pathology , Cerebral Infarction/complications , Cerebral Infarction/cerebrospinal fluid , Follow-Up Studies , Magnetic Resonance Imaging , Meningitis, Bacterial/diagnostic imaging , Meningitis, Bacterial/pathology , Meningitis, Bacterial/complications , Meningitis, Bacterial/cerebrospinal fluid , Salmonella Infections/complications , Tomography, X-Ray Computed/methodsABSTRACT
A case of Wilson's disease with extensive white matter hypodensity, including in the basal ganglia, on CT scan is presented. Such extensive CT scan abnormality has not been described in Wilson's disease.