We report an 11-month-old male who presented with recurrent seizures, subdural bleed, skull fracture, lightly pigmented hair, and fair lax skin. Copper and ceruloplasmin levels were low and gross deletion of ATP7A gene was found confirming the diagnosis of Menkes disease. The presence of subdural bleed and skull fracture prompted a referral to the Child Protection Unit to rule out child abuse.
Human ; Male ; Female ; Adult ; Infant ; MENKES KINKY HAIR SYNDROME ; NERVOUS SYSTEM DISEASES ; CENTRAL NERVOUS SYSTEM DISEASES ; BRAIN DISEASES ; BRAIN DISEASES, METABOLIC ; BRAIN DISEASES, METABOLIC, INBORN ; CERULOPLASMIN ; COPPER

Metronidazole is commonly used for brain abscess but is not well known for its neurotoxic complications. Metronidazole-induced encephalopathy (MIEP) is toxic encephalopathy associated with the use of metronidazole. We experienced a case of brain abscess which developed reversible severe MIEP during treatment period. Although MIEP occurs in typical locations, it is not easy to differentiate from other conditions such as cerebral infarction, demyelinating diseases and metabolic diseases. Neurosurgeons should be aware that severe MIEP can occur during the use of metronidazole though it is not common.
Brain ; Brain Abscess ; Cerebral Infarction ; Demyelinating Diseases ; Humans ; Metabolic Diseases ; Metronidazole ; Neurotoxicity Syndromes

BACKGROUND: Triphasic waves are one of the electroencephalographic patterns that can be usually seen in metabolic encephalopathy. The aim of this study is to compare the clinical and electrophysiologic profiles between patients with and without triphasic waves in metabolic encephalopathy, and reassess the significance of triphasic waves in metabolic encephalopathy. METHODS: We recruited 127 patients with metabolic encephalopathy, who were admitted to our hospital. We divided these admitted patients into two groups; those with and without triphasic waves. We analyzed the difference of duration of hospitalization, mortality rate during admission, Glasgow Coma Scale, severity of electroencephalographic alteration, and presence of acute symptomatic seizures between these two groups. RESULTS: Of the 127 patients with metabolic encephalopathy, we excluded 67 patients who did not have EEG, and 60 patients finally met the inclusion criteria for this study. Patients with triphasic waves had more severe electroencephalographic alterations, lower Glasgow Coma Scale, and more acute symptomatic seizures than those without triphasic waves. After adjusting the clinical variables, Glasgow Coma Scale and acute symptomatic seizures were only significantly different between patients with and without triphasic waves. CONCLUSIONS: We demonstrated that patients with triphasic waves in metabolic encephalopathy had more significant impairment of the brain function.
Brain ; Brain Diseases, Metabolic* ; Electroencephalography ; Glasgow Coma Scale ; Hospitalization ; Humans ; Metabolism ; Mortality ; Seizures

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

We present a patient with type 2 diabetes mellitus and metastatic renal cell carcinoma who developed severe hypoglycemia and metabolic encephalopathy after sunitinib treatment. Sunitinib, a multi-target tyrosine kinase inhibitor, is used to treat metastatic renal cell carcinoma. Sunitinib-induced hypoglycemia has been reported and there are rare case reports of severe hypoglycemia due to sunitinib. Therefore, glycemic control should be monitored closely in diabetic patients treated with sunitinib.
Brain Diseases, Metabolic ; Carcinoma, Renal Cell* ; Coma* ; Diabetes Mellitus, Type 2 ; Humans ; Hypoglycemia ; Protein-Tyrosine Kinases

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

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

PURPOSE: To describe the clinical features of nonconvulsive status epilepticus (NCSE) associated with cephalosporins in patients with renal failure and to emphasize the importance of EEG in diagnosing NCSE in patients with altered consciousness.METHODS: We described the detailed clinical characteristics of 8 patients with renal failure who underwent cephalosporin-induced NCSE.RESULTS: Six of the patients showed unresponsiveness with preserved alertness and two patients presented confusion and irritability. 6 patients presented altered consciousness with intermittent jerky movements of face or arms. Altered consciousness developed 6+/-5 days (mean+/-SD) after starting the above antibiotics. The EEG showed continuous generalized high voltage 1.0 to 2.5 Hz sharp waves or sharp and wave complexes. All patients improved 3+/-1 days after withdrawing the offending antibiotics without administration of antiepileptic drugs.CONCLUSIONS: Cephalosporin-induced NCSE should be differentiated from metabolic encephalopathy in patients with renal failure, which is clinically difficult. Early detection with EEG and withdrawal of the offending antibiotics can result in full recovery.
Anti-Bacterial Agents ; Arm ; Brain Diseases, Metabolic ; Cephalosporins ; Consciousness ; Electroencephalography ; Humans ; Renal Insufficiency ; Status Epilepticus

OBJECTIVE: To explore the genetic basis for a child affected with cerebral creatine deficiency syndrome 1 (CCDS1). METHODS: High-throughput sequencing was carried out to screen pathogenic variant associated with the clinical phenotype of the proband. The candidate variant was verified by Sanger sequencing. RESULTS: High-throughput sequencing revealed that the proband has carried heterozygous c.327delG variant of the SLC6A8 gene, which was verified by Sanger sequencing.Neither parent was found to carry the same variant. CONCLUSION The de novo heterozygous c.327delG variant of the SLC6A8 gene probably underlay the CCDS1 in this child.
Brain Diseases, Metabolic, Inborn/genetics* ; Creatine ; Genetic Testing ; Heterozygote ; Humans ; Mental Retardation, X-Linked ; Mutation