Multiple endocrine neoplasia (MEN) mutation is an autosomal dominant disorder characterized by the occurrence of parathyroid, pancreatic islet, and anterior pituitary tumors. The incidence of insulinoma in MEN is relatively uncommon, and there have been a few cases of MEN manifested with insulinoma as the first symptom in children. We experienced a 9-year-old girl having a familial MEN1 mutation. She complained of dizziness, occasional palpitation, weakness, hunger, sweating, and generalized tonic-clonic seizure that lasted for 5 minutes early in the morning. At first, she was only diagnosed with insulinoma by abdominal magnetic resonance images of a 1.3 × 1.5 cm mass in the pancreas and high insulin levels in blood of the hepatic vein, but after her father was diagnosed with MEN1. We found she had familial MEN1 mutation, and she recovered hyperinsulinemic hypoglycemia after enucleation of the mass. Therefore, the early genetic identification of MEN1 mutation is considerable for children with at least one manifestation.
Alleles ; Base Sequence ; Child ; DNA Mutational Analysis ; Female ; Humans ; Hypoglycemia/diagnosis ; Insulin/blood ; Insulinoma/diagnostic imaging/*pathology ; Magnetic Resonance Imaging ; Multiple Endocrine Neoplasia Type 1/*diagnosis/pathology ; Pancreatic Neoplasms/diagnostic imaging/*pathology ; Pedigree ; Polymorphism, Single Nucleotide ; Proto-Oncogene Proteins/genetics ; Seizures/complications

Ataxia ; Carbamazepine ; analogs & derivatives ; therapeutic use ; Carcinoma ; Central Nervous System ; pathology ; Diagnosis, Differential ; Female ; Gait ; Humans ; Magnetic Resonance Imaging ; Middle Aged ; Nasopharyngeal Neoplasms ; complications ; radiotherapy ; Nervous System Diseases ; complications ; diagnosis ; Radiotherapy ; adverse effects ; Seizures ; complications ; diagnosis ; Siderosis

Umbilical cord blood (UCB)-derived mesenchymal stem cells (MSCs) have been introduced as a possible therapy in acute lung injury and acute respiratory distress syndrome (ARDS). This case history is reported of a 59-yr-old man who was treated with MSCs in the course of ARDS and subsequent pulmonary fibrosis. He received a long period of mechanical ventilation and weaning proved difficult. On hospital day 114, he underwent the intratracheal administration of UCB-derived MSCs at a dose of 1 x 10(6)/kg. After cell infusion, an immediate improvement was shown in his mental status, his lung compliance (from 22.7 mL/cmH2O to 27.9 mL/cmH2O), PaO2/FiO2 ratio (from 191 mmHg to 334 mmHg) and his chest radiography over the course of three days. Even though he finally died of repeated pulmonary infection, our current findings suggest the possibility of using MSCs therapy in an ARDS patient. It is the first clinical case of UCB-derived MSCs therapy ever reported.
Bacterial Infections/diagnosis ; Drug Resistance, Multiple, Bacterial ; Fetal Blood/*cytology ; Humans ; Male ; *Mesenchymal Stem Cell Transplantation ; Mesenchymal Stromal Cells/*cytology ; Middle Aged ; Respiratory Distress Syndrome, Adult/complications/radiography/*surgery ; Seizures/etiology ; Shock, Septic/diagnosis ; Tomography, X-Ray Computed ; Treatment Outcome

Long QT interval is an important finding that is often missed by electrocardiogram interpreters. Long QT syndrome (inherited and acquired) is a potentially lethal cardiac channelopathy that is frequently mistaken for epilepsy. We present a case of long QT syndrome with multiple cardiac arrests presenting as syncope and seizures. The long QTc interval was aggravated by hypomagnesaemia and drugs, including clarithromycin and levofloxacin. Multiple drugs can cause prolongation of the QT interval, and all physicians should bear this in mind when prescribing these drugs.
Adult ; Defibrillators, Implantable ; Electrocardiography ; Heart Rate ; Humans ; Long QT Syndrome ; complications ; congenital ; diagnosis ; therapy ; Male ; Risk Factors ; Seizures ; complications

OBJECTIVETo analyze the relationship between the ictal onset zone and dominant interictal epileptiform foci in tuberous sclerosis complex (TSC) patients.

METHODClinical data of 20 patients with TSC which had epileptic seizures during Video-EEG monitoring was assessed. Consistency and dominance of focal interictal epileptiform activity and the ictal onset zone were identified. Concordance between interictal and ictal findings was analyzed.

RESULTOf the 20 patients, 7 were female, and 13 were male. The age of epilepsy onset was from 15 d to 6 years. The Video-EEG monitoring age was from 6 months to 11 years. Family history was found in three cases. Abnormality in neuroimaging existed in 17 of 18 patients who were examined. Interictal EEG showed hypsarrhythmia in 3 patients, multifocal epileptiform activity with a dominant focus in 12 patients, both focal and generalized discharges in 2 patients, and only focal discharges in 3 patients. The seizures types during EEG monitoring included epileptic spasms, partial seizure, atypical absence, and generalized or focal myoclonic seizure. The most common seizure type was partial seizure and then epileptic spasms. EEG in 4 patients with epileptic spasms showed ictal generalized discharges and interictal hypsarrhythmia or generalized discharges. Clinical manifestation of epileptic spasms was asymmetric in 3 patients. Lateralization and location of interictal and ictal discharges were consistent in 2 of the 3 patients, while only lateralization consistency in 1 of the 3 patients. Partial seizures as the only seizure type were monitored in 13 patients. Of the 13 patients, lateralization and location of interictal and ictal discharges were inconsistent in 2 patients (15%), consistent in 8 patients (62%), lateralization or location consistent in 2 patients (15%). One case could not be analyzed because of uncertainty of lateralization and location of seizure onset.

CONCLUSIONIn the majority of patients with TSC, multifocal interictal epileptiform activity is present, in which a most dominance of focal epileptiform activity could be found. For some epileptic seizures or the majority of partial seizures, the ictal onset zone is concordant with the dominance of focal interictal epileptiform foci. The concordance might have positioning reference significance for preoperative evaluation of epilepsy surgery.

Brain ; pathology ; physiopathology ; Brain Mapping ; methods ; Cerebral Cortex ; pathology ; physiopathology ; Child ; Child, Preschool ; Electroencephalography ; statistics & numerical data ; Epilepsies, Partial ; diagnosis ; etiology ; physiopathology ; Female ; Humans ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Predictive Value of Tests ; Retrospective Studies ; Seizures ; diagnosis ; etiology ; physiopathology ; Tuberous Sclerosis ; complications ; diagnosis ; physiopathology

Adolescent ; Female ; Humans ; Multiple Sclerosis ; complications ; diagnosis ; Seizures ; etiology

A 42-year-old Chinese man presented with left-sided chest pain and splenomegaly. Full blood count revealed erythrocytosis, while plain radiograph and computed tomography of the abdomen and pelvis revealed hepatosplenomegaly with splenic infarction. Further workup confirmed the diagnosis of polycythaemia vera. Clinical and imaging features of polycythaemia vera, as well as the potential pitfalls in image interpretation, are discussed in this article.
Adult ; Brain ; pathology ; Cerebral Infarction ; complications ; diagnosis ; Diagnostic Imaging ; methods ; Humans ; Liver ; pathology ; Male ; Middle Aged ; Polycythemia Vera ; diagnosis ; diagnostic imaging ; Radiography, Abdominal ; methods ; Seizures ; diagnosis ; Splenomegaly ; diagnosis ; Tomography, X-Ray Computed ; methods ; Venous Thrombosis ; diagnosis

OBJECTIVETo characterize amplitude-integrated electroencephalo graphic (aEEG) traces in neonates with acute bilirubin encephalopathy (ABE), explore the value of aEEG in early diagnosis and prediction of neurological outcome of ABE.

METHODaEEG records of 10 cases with ABE (Oct 2009-Nov 2011) were reviewed to identify neonates with a diagnosis of ABE. Clinical data were collected. The aEEG traces were classified according to background activity (normal, moderate, or severely abnormal), presence of seizures and sleep-wake cycling (SWC). Brainstem auditory evoked potential (BAEP) and magnetic resonance imaging (MRI) were studied. The neuromotor development of survivors with ABE was assessed by using the Infant Neurological International Battery (INFANIB).

RESULTThe characteristics of aEEG tracings in these infants with ABE were shown continuous normal voltage (CNV, n = 5), discontinuous voltage (DNV, n = 4), discontinuous voltage with burst-suppression (BS)BS+ (n = 1); mature SWC (n = 2), immature SWC (n = 5), no SWC (n = 3); 8 infants (80%) had electrical seizures: single seizure (n = 2); repetitive seizures (n = 2), and status epilepticus (SE) (n = 4). Among the 10 infants with ABE, no infants had normal aEEG, 3 had mildly abnormal aEEG, and 7 had severely abnormal aEEG. Eight infants accepted BAEP test, 2 were mildly abnormal and 6 were severely abnormal. Six infants accepted MRI, 1 was normal and 5 were abnormal. By chi-square analysis and Spearman rank correlation analysis, the results of aEEG classification were correlated with the phase of ABE and the severity of BAEP. These infants were followed up for more than 6 months (range 6 months to 1 year). In 3 infants with mildly abnormal aEEG, 2 were normal and 1 was transit in infanib score at 6 months of age. Of 7 infants with severely abnormal aEEG, 1 died, 3 were abnormal (2 Spastic dyskinesia and 1 hypotonia), 2 were transit in infanib score at 6 months old. 1 lost to follow-up.

CONCLUSIONAmplitude-integrated electroencephalography can provide important information of the status of cerebral function in neonates with ABE and help to predict its neurological outcome.

Brain ; physiology ; Early Diagnosis ; Electroencephalography ; Evoked Potentials, Auditory, Brain Stem ; Female ; Humans ; Hyperbilirubinemia ; complications ; Infant, Newborn ; Infant, Premature ; Kernicterus ; diagnosis ; physiopathology ; Magnetic Resonance Imaging ; Male ; Predictive Value of Tests ; Seizures ; diagnosis ; etiology ; physiopathology ; Severity of Illness Index ; Sleep ; physiology

OBJECTIVECerebral infarction (CI) is one of severe diseases of central nervous system in neonates, and some infants with CI could have poor prognosis in the long term. This study aimed to analyze the clinical data and prognosis of all neonatal cases with cerebral infarction in recent years and to help future clinical work.

METHODTotally 58 neonatal cases with CI admitted to NICU of the hospital from January 1999 to December 2010 were included in this study. We analyzed all clinical data and prognosis by retrospective analysis.

RESULTSFifty-two term babies and six preterm babies were included. There were altogether 51 cases with asphyxia and 7 with hemorrhagic cerebral infarction. Perinatal hypoxia-ischemia was the most common high-risk factor and it accounted for 46.6%. Seizure was the most frequent initial symptom and the most common clinical manifestation (accounted for 77.6%), and it was followed by intermittent cyanosis, apnea and lethargy. Cerebral CT scan and magnetic resonance imaging were major methods to help to make the diagnosis and they also had close relation with prognosis. Diffusion weighted imaging was very helpful to diagnose infarction in early stage. Left middle cerebral artery was the most common artery to be involved. Supportive therapy and symptomatic treatment were the main methods in the acute stage of neonatal cerebral infarction. Those babies with poor prognosis mostly had large infarction involving cerebral hemisphere, thalamus and basal ganglia.

CONCLUSIONSNeonatal cerebral infarction was a severe brain injury affecting long tern nervous system prognosis. Perinatal hypoxia was the most common high-risk factor and seizure was the most frequent initial symptom. Diffusion weighted imaging was valuable to diagnose infarction in early stage. Most of infants with poor prognosis had large infarction involving hemisphere, thalamus and basal ganglia. Early diagnosis with brain imaging would be helpful for rehabilitation therapy and improving prognosis.

Brain ; diagnostic imaging ; pathology ; Cerebral Infarction ; diagnosis ; etiology ; pathology ; therapy ; Cerebral Palsy ; etiology ; Humans ; Hypoxia-Ischemia, Brain ; complications ; Incidence ; Infant ; Infant, Newborn ; Magnetic Resonance Imaging ; Male ; Prognosis ; Radiography ; Retrospective Studies ; Risk Factors ; Seizures ; etiology ; Ultrasonography, Doppler, Color

OBJECTIVETo study the clinical and laboratory features and diagnosis of the patient with anti-N-methyl-D-aspartate receptor(NMDAR)encephalitis in children.

METHODThe data of clinical feature, laboratory findings, and radiological manifestation were reviewed and analyzed.

RESULTOf the 7 patients, 4 were female and 3 were male. The age of onset was from 6.6 to 15.5 years (average 9.5 years). The onset of 4 cases started with convulsion. Six cases had seizures which was difficult to control by antiepileptic drugs. All patients had psychiatric symptoms and speech disorder. Six cases had different levels of decreased consciousness and dyskinesias. 6 cases had autonomic nerve instability, and 7 cases developed sleep disorders. The results of MRI examination were normal in all patients. The EEG of most patients showed focal or diffuse slow waves. Six cases had oligoclonal bands. All cases were confirmed to have the disease by detection of anti-NMDA receptor antibodies. No tumor was detected in any of the patients. All patients received immunotherapy.

CONCLUSIONAnti-NMDAR encephalitis is a severe but treatable disorder that frequently affects children and adolescents. Pediatric patients had clinical manifestations similar to those of adult patients. But children have a lower incidence of tumors and hypoventilation also occurs less frequently in children. Most of children had a good prognosis.

Adolescent ; Anti-N-Methyl-D-Aspartate Receptor Encephalitis ; complications ; diagnosis ; therapy ; Autoantibodies ; blood ; cerebrospinal fluid ; Autonomic Nervous System ; physiopathology ; Brain ; diagnostic imaging ; pathology ; Child ; Electroencephalography ; Female ; Humans ; Immunotherapy ; methods ; Magnetic Resonance Imaging ; Male ; Movement Disorders ; etiology ; Radiography ; Receptors, N-Methyl-D-Aspartate ; immunology ; Retrospective Studies ; Seizures ; etiology