INTRODUCTIONRadiologists may encounter bilaterally symmetrical abnormalities of the basal ganglia on magnetic resonance imaging (MRI), typically in the context of diffuse systemic, toxic or metabolic diseases. A systematic approach and broad knowledge of pathology causing this uncommon group of conditions would be useful.

MATERIALS AND METHODSThis review uses illustrative images to highlight metabolic conditions, such as Leigh's syndrome, citrullinaemia, hypoglycaemia or carbon monoxide poisoning, as well as other causes of bilateral basal ganglia lesions such as osmotic myelinolysis, deep cerebral venous thrombosis and Creutzfeldt-Jakob disease.

RESULTSCareful assessment of radiological findings outside the basal ganglia, such as involvement of the cortex, white matter, thalamus and pons, together with clinical correlation, may be helpful in narrowing the differential diagnosis, and directing further radiological, biochemical or genetic investigations. Recent advances in MR technology have resulted in newer techniques including diffusion-weighted (DW) MR imaging and MR spectroscopy (MRS); these may be helpful if appropriately used.

CONCLUSIONSAbnormal MRI findings in the basal ganglia should not be interpreted in isolation. A systematic approach including DW MR imaging, MRS, and a broad knowledge of diffuse systemic, toxic or metabolic diseases is helpful.

Basal Ganglia Diseases ; diagnosis ; diagnostic imaging ; physiopathology ; Brain Diseases, Metabolic ; diagnosis ; diagnostic imaging ; Diagnosis, Differential ; Humans ; Magnetic Resonance Imaging ; Radiography

Uremic encephalopathy is a well-known disease with typical MR findings including bilateral vasogenic or cytotoxic edema at the cerebral cortex or basal ganglia. Involvement of the basal ganglia has been very rarely reported, typically occurring in uremic-diabetic patients. We recently treated a patient who had non-diabetic uremic encephalopathy with an atypical lesion distribution involving the supratentorial white matter, without cortical or basal ganglia involvement. To the best of our knowledge, this is only the second reported case of non-diabetic uremic encephalopathy with atypical MR findings.
Adult ; Brain Diseases, Metabolic/*diagnosis ; *Diffusion Magnetic Resonance Imaging ; Humans ; Male ; Uremia/*complications

Endoscopic retrograde cholangiopancreatography is widely used for diagnosis and treatment of pancreatobiliary diseases and associated with a spectrum of complications such as pancreatitis, hemorrhage, and so on. Endoscopic papillary balloon dilatation (EPBD) has an advantage over endoscopic sphincterotomy in complication of bleeding. We report here on a 68-year-old woman who developed metabolic encephalopathy due to massive bleeding after EPBD. Massive bleeding was controlled after selective embolization and metabolic encephalopathy was improved after conservative management. Metabolic encephalopathy due to massive bleeding after EPBD has not been reported. We report on this unusual case along with a review of the related literatures.
Aged ; Brain Diseases, Metabolic* ; Cholangiopancreatography, Endoscopic Retrograde ; Diagnosis ; Dilatation ; Female ; Hemorrhage* ; Humans ; Pancreatitis ; Sphincterotomy, Endoscopic

Inborn errors of metabolism constitute an important cause of neurological disease in the neonatal period and can present clinically as encephalopathy. Although it is relatively rare, it is important to have a high index of suspicion. Appropriate investigations and a step-wise approach to diagnosis allow for early institution of treatment and can prevent significant morbidity and mortality. The aim of this article is to give a brief outline of the various inborn errors of metabolism to consider in neonatal encephalopathy and to provide a framework for investigation and diagnosis.
Brain Diseases, Metabolic ; etiology ; Humans ; Infant, Newborn ; Metabolism, Inborn Errors ; complications ; diagnosis

Calcification so of the basal ganglia are rarely found at routine autopsies and in skull radiographs. CT is superior to the plain skull radiographs in detecting intracranial attenuation differences and may be stated to bethe method of choice in the diagnosis of intracranial calcifications. Of 5985 brain CT scans performed in KyungHee Univeristy Hospital during past 3 years, 36 cases were found to have high attenuation lesions suggesting within basal ganglia. 1. The incidence of basal ganglia calcification on CT scan was about 0.6%. 2. Of these 36 cases, 34 cases were bilateral and the remainder was unilateral. 3. The plain skull films of 23 cases showed visible calcification of basal ganglia in 3 cases (13%). 4. No specific metabolic disease was noted in the cases.
Autopsy ; Basal Ganglia ; Brain ; Diagnosis ; Incidence ; Metabolic Diseases ; Methods ; Skull ; Tomography, X-Ray Computed

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.
Apnea ; Brain Edema ; Central Nervous System ; Diagnosis ; Diagnosis, Differential ; Glycine ; Hiccup ; Humans ; Hyperglycinemia, Nonketotic* ; Infant, Newborn* ; Lethargy ; Metabolic Diseases ; Metabolism ; Muscle Hypotonia ; Myoclonus ; Seizures ; Sinus Thrombosis, Intracranial ; Thrombosis*

OBJECTIVESTo investigate the values of tandem mass spectrometry (MS/MS) in etiologic diagnosis and understanding therapeutic effect in cerebral developmental retardation, and to help patients in early diagnosis, treatment and favorable prognosis.

METHODSOne hundred and fifty-eight childhood patients with brain heteroplasia were tested from July 2004 to October 2006. The blood was collected on filter paper, punched and extracted into methanol solution with stable isotope labeled internal standards, then derivatized with butanolic-HCl. After preparation, the samples were analysed by tandem mass spectrometry. Eleven MS/MS-positive patients were further analyzed based on gas chromatography/mass spectrometry (GC/MS) analysis of urine, clinical course, and treatment outcome.

RESULTSEleven of 158 patients (7.0%) with inborn metabolic error were confirmed, including five with methylmalonic acidemia, two with propionic acidemia, one with ornithine transcarbamylase deficiency, one with maple syrup urine disease, one with phenylketonuria, and one with biotinidase deficiency. Among them, five were male, six were female, aged from 4 days to 21 months. The clinical manifestations were diverse, including mental developmental retardation or degradation (11 cases), convulsion (5 cases), coma (4 cases), vomiting (4 cases), malnutrition (4 cases), lethargy (3 cases), repeated infection (3 cases), hypotonia (2 cases), etc. Laboratory findings showed metabolic acidosis, hyperammonemia, hyperlactacidemia, anemia, etc. MRI findings of the brain showed cerebral atrophy, a pattern of bilateral T(2)W high signal intensity or/and T(1)W low signal intensity in cerebral white matter and multiple encephalomalacia or vesicular change, ect. In methylmalonic acidemia patients, the early onset with severe acidosis and coma have had a poor prognosis. Improvement was observed in 8 cases after treatment with vitamin B(12), L-carnitine, special milk, low-protein diet or biotin, etc. However 3 MMA patients died.

CONCLUSIONMS/MS was helpful for some patients in etiologic diagnosis and understanding therapeutic effect of cerebral developmental retardation. Early diagnosis and appropriate treatment are essential to improve the prognosis and prevent brain damage.

Adolescent ; Brain Diseases, Metabolic, Inborn ; diagnosis ; etiology ; Child, Preschool ; Female ; Gas Chromatography-Mass Spectrometry ; methods ; Humans ; Infant ; Infant, Newborn ; Male ; Psychomotor Disorders ; diagnosis ; Tandem Mass Spectrometry ; methods

OBJECTIVE: To detect potential variation in glutaryl-CoA dehydrogenase (GCDH) gene among three Chinese families affected with glutaric acidemia type Ⅰ(GA-1) and correlate the genotypes with phenotypes. METHODS: Genomic DNA was extracted from peripheral blood samples derived from three patients with GA-1 and their family members. The coding regions of the GCDH gene were amplified with PCR and subjected to Sanger sequencing. RESULTS: The clinical manifestation of the patients varied from macrocephaly to severe encephalopathy, with notable phenotypic difference between siblings carrying the same variation. In pedigrees 1 and 2, the probands have carried compound heterozygous variations c.1133C>T(p.Ala378Val) and c.1244-2A>C, which were derived their fathers and mothers, respectively. In pedigree 3, the proband has carried compound heterozygous variation c.339delT (p.Tyr113) and c.406G>T (p.Gly136Cys). Among these, variations c.339delT and c.1133C>T were verified as novel by retrieval of dsSNP, HGMD and 1000 genome database. Bioinformatic analysis suggested that above variations can affect protein function and are probably pathogenic. CONCLUSION Above discovery has expanded the mutation spectrum of the GCDH gene. No correlation was found between the clinical phenotype and genotype of GA-1 patients.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; Brain Diseases, Metabolic ; diagnosis ; genetics ; China ; DNA Mutational Analysis ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Humans ; Mutation

The knowledge about nutritional, toxic, and metabolic causes of dementia is particularly important, because they may be reversible. Central pontine myelinolysis(CPM) is one of these causes. CPM is a well known but rare metabolic disease of unknown etiology linked to overly aggressive correction of hyponatremia. We report a 74-year-old woman who developed disorientation, memory disturbance, and behavioral problem following intensive care unit management for pneumonia. Mini-mental status examination-Korean version(MMSE-K) study revealed severe cognitive dysfunction. Brain magnetic resonance imaging showed changes consistent with CPM and extrapontine myelinolysis. After supportive care, patient's clinical status was significantly improved. We suggest that a metabolic problem such as CPM should be considered in the diagnosis of acute or subacute cognitive deterioration in elderly patients.
Aged ; Brain ; Dementia ; Diagnosis ; Female ; Humans ; Hyponatremia ; Intensive Care Units ; Magnetic Resonance Imaging ; Memory ; Metabolic Diseases ; Myelinolysis, Central Pontine* ; Pneumonia ; Problem Behavior

Glutaric aciduria type 1 is a rare autosomal recessive disorder. GCDH gene mutations cause glutaryl-CoA dehydrogenase deficiency and accumulation of glutaric acid and 3-hydroxyglutaric acid, resulting in damage of striatum and other brain nucleus and neurodegeneration. Patients with glutaric aciduria type 1 present with complex heterogeneous phenotypes and genotypes. The symptoms are extremely variable. The ages of the clinical onset of the patients range from the fetus period to adulthood. The patients with mild glutaric aciduria type 1 are almost asymptomatic before onset, however, severe glutaric aciduria type 1 may cause death or disability due to acute encephalopathy. Acute metabolic crisis in patients with underlying glutaric aciduria type 1 is often triggered by febrile illnesses, trauma, hunger, high-protein foods and vaccination during a vulnerable period of brain development in infancy or early childhood. The early-onset patients usually have a poor prognosis. Urinary organic acids analysis, blood acylcarnitines analysis and GCDH study are important for the diagnosis of this disorder. Neonatal screening is essential for the early diagnosis and the improvement of prognosis.
Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; therapy ; Brain Diseases, Metabolic ; diagnosis ; genetics ; therapy ; Genotype ; Glutaryl-CoA Dehydrogenase ; deficiency ; genetics ; Humans ; Infant, Newborn ; Neonatal Screening ; Phenotype ; Prenatal Diagnosis ; Prognosis