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

Posterior reversible encephalopathy syndrome (PRES) is a neurotoxic state with distinct clinical and radiological features. It is characterized by headache, vomiting, altered mentality, seizures, and visual disturbances. PRES typically consists of reversible vasogenic edema in the posterior circulation territories, although irreversible cytotoxic edema and atypical lesion locations have also been described. Most patients are markedly hypertensive at presentation, although some have only mildly elevated or even normal blood pressure. Many known causative factors of PRES have been elucidated, but its underlying pathophysiology remains poorly defined. This review summarizes the etiologies, presumed pathophysiology, histopathologic findings, basic and advanced imaging features, clinical symptoms of presentation, and treatment of PRES.
Blood Pressure ; Diagnosis, Differential ; Edema ; Headache ; Humans ; Posterior Leukoencephalopathy Syndrome* ; Seizures ; Vomiting

A 13-year-old, spayed, female Chihuahua dog was referred for evaluation of fever, lethargy, and dyspnea. Hematologic evaluation revealed severe neutropenia, thrombocytopenia, and mild anemia. The dog had been undergoing phenobarbital therapy for the past 7 weeks because of generalized seizures due to meningoencephalomyelitis of unknown etiology. After ruling out other possible causes of cytopenias, a tentative diagnosis was made of drug-induced blood cell dyscrasia. The neutropenia and thrombocytopenia resolved after discontinuation of phenobarbital (8 days and 15 days after discontinuation, respectively). This is the first case report in Korea to demonstrate blood dyscrasia associated with idiosyncratic adverse effects of phenobarbital.
Adolescent ; Anemia ; Animals ; Blood Cells* ; Diagnosis ; Dogs* ; Dyspnea ; Female ; Fever ; Humans ; Korea ; Lethargy ; Leukopenia ; Neutropenia ; Phenobarbital* ; Seizures ; Thrombocytopenia

OBJECTIVEArgininemia is a rare disorder of urea cycle defect. The clinical manifestations of this disorder are similar to those of cerebral palsy so that the diagnosis is usually much delayed. This study aimed to investigate the phenotypes and genotypes of seven Chinese patients suffering from argininemia.

METHODThree boys and four girls with spastic tetraplegia were diagnosed as argininemia by blood aminoacids analysis and ARG1 gene study. Patients were given a protein-restricted diet, citrulline, sodium benzoate, and other treatment intervention. The mother of Patient 5 and 6 accepted genetic counseling and underwent prenatal diagnosis by amniocentesis.

RESULTSeven patients presented with progressive spastic tetraplegia and poor physical growth from the age of 1 month to 4 years. Argininemia was found at the age of 1 year and 10 months to 12 years. Five patients had mental retardations. Three had seizures. Their blood arginine elevated (86.66 to 349.83 µmol/L, normal controls 5 to 25 µmol/L). Liver dysfunction was found in six patients. Five patients had elevated blood ammonia levels. In four patients, cerebral atrophy was observed by cranial magnetic resonance imaging. Nine mutations in the ARG1 gene were identified from 7 patients. Only two mutations, c.703G > A in exon 7 and c.32T > C in exon 1 had been reported. c.34G > T, c.53G > A, c.67delG, c.232dupG, c.374C > T, c.539G > C and c.646-649delCTCA, were novel mutations of ARG1. A homozygous mutation c.703G > A was found in the amniocytes of Patient 5's mother, indicating that the fetus was affected by argininemia. Induced abortion was performed. c.53G > A from Patient 6 was not found in the amniocytes of her mother, indicating that the fetus was not affected by hepatocyte arginase deficiency. The result was confirmed by postnatal mutation analysis of cord blood and the normal blood arginine of the newborn.

CONCLUSIONArgininemia is one of the few treatable causes of pediatric spastic paralysis. In this study, seven Chinese patients with spastic tetraplegia were detected by blood aminoacids analysis and confirmed by molecular analysis. Seven novel mutations on ARG1 gene were identified. Prenatal diagnosis of the fetus of a family was performed by amniocytes ARG1 gene analysis.

Abortion, Induced ; Amniocentesis ; Arginase ; Arginine ; blood ; Asian Continental Ancestry Group ; Child ; Child, Preschool ; DNA Mutational Analysis ; Diet, Protein-Restricted ; Exons ; Female ; Fetus ; Genotype ; Homozygote ; Humans ; Hyperammonemia ; diagnosis ; Hyperargininemia ; diagnosis ; physiopathology ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Quadriplegia ; diagnosis ; physiopathology ; Seizures

Pheochromocytoma crisis is a life-threatening endocrine emergency. Stimuli that can elicit a pheochromocytoma crisis include anesthesia, tumor manipulation, and several drugs. Rarely, glucocorticoids can induce a pheochromocytoma crisis. Here, we describe the case of a 65-year-old female who developed an adrenergic crisis with blood pressure fluctuations, dizziness, and seizures after receiving glucocorticoids for the treatment of urticaria. The symptoms led us to speculate that a pheochromocytoma was present. We confirmed the diagnosis based on abdominal imaging and biochemical studies. The patient's symptoms improved after surgical removal of the pheochromocytoma.
Aged ; Anesthesia ; Blood Pressure ; Diagnosis ; Dizziness ; Emergencies ; Female ; Glucocorticoids ; Humans ; Pheochromocytoma* ; Seizures ; Urticaria*

Glucose transporter type 1 deficiency syndrome (GLUT1-DS) is caused by impaired glucose transport across the blood-brain barrier (BBB) and characterized by infantile seizures, developmental delay, acquired microcephaly, spasticity, ataxia, and a low cerebrospinal glucose concentration (hypoglycorrhachia). A diagnosis of GLUT1-DS is biochemically established in neurologically impaired patients with hypoglycorrhachia in the normoglycemia. GLUT1-DS can be confirmed by mutation analysis of the solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1) gene or reduced 3-O-methyl-D-glucose uptake into erythrocytes. The patient was a 12-year-old boy born at term. He had experienced seizures from 4 months of age. Electroencephalography (EEG) did not show epileptiform activity. Brain magnetic resonance imaging (MRI) revealed mild diffuse cortical atrophy and ventricular dilatation. Furthermore, he showed developmental delay, mental retardation, and ataxia, which all became more apparent with age progression. For 7 years, he had experienced paroxysmal episodes of atonic behavioral changes that were aggravated before meals or when he became tired. When he was 12 years old, cerebrospinal fluid (CSF) analysis revealed a low glucose concentration in the normal serum glucose and lactate levels. Under the impression of GLUT1-DS, mutation analysis of the SLC2A1 gene by direct sequencing was performed using white blood cells, and c.680-2delA of intron 5 was found. We describe a GLUT1-DS patient with a typical natural history of GLUT1-DS through a long term follow-up visits, with a novel splice site mutation (SLC2A1: c.6802delA).
3-O-Methylglucose ; Ataxia ; Atrophy ; Blood Glucose ; Blood-Brain Barrier ; Brain ; Cerebrospinal Fluid ; Child ; Diagnosis ; Dilatation ; Electroencephalography ; Erythrocytes ; Follow-Up Studies ; Glucose ; Glucose Transport Proteins, Facilitative* ; Glucose Transporter Type 1 ; Humans ; Intellectual Disability ; Introns ; Lactic Acid ; Leukocytes ; Magnetic Resonance Imaging ; Male ; Meals ; Microcephaly ; Muscle Spasticity ; Natural History ; Seizures

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

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

BACKGROUND: Changes in levels of trace elements have been proposed to underlie febrile seizures. Particularly, low zinc levels have been proposed as related factor of febrile seizure. In this study, we investigated whether mean serum zinc levels differed between children with febrile seizure and afebrile seizure. METHODS: Using inductively coupled plasma mass spectrometry, serum zinc levels were measured in 288 children who had been diagnosed with febrile seizures (N=248) and afebrile seizures (N=40). Mean serum zinc levels were compared between the 2 groups. RESULTS: Mean serum zinc level was 60.5+/-12.7 microg/dL in the febrile seizure group and 68.9 +/-14.5 microg/dL in the afebrile seizure group. A significant difference in serum zinc levels was observed between the febrile and afebrile seizure groups (P<0.001). CONCLUSIONS: Zinc levels in children with febrile seizure were significantly lower than those in children with afebrile seizure.
Child, Preschool ; Female ; Humans ; Infant ; Male ; *Mass Spectrometry ; Seizures/blood/*diagnosis ; Seizures, Febrile/blood/*diagnosis ; Zinc/*blood

PURPOSE: To determine whether analyte levels in serum laboratory tests and arterial blood gas analysis (ABGA) are helpful for differentiating between generalized seizures and syncope in the emergency department (ED). METHODS: Patients over 18 years old who presented to an ED of a tertiary care hospital with a transient loss of consciousness within 4 hours were selected to be in either the seizure (n=166) or syncope groups (n=168). After exclusion for criteria, we used ROC curves to determine AUC, optimal cut-off value, sensitivity, and specificity, depending on time (4 hour, 2 hour, 1 hour and 0.5 hour). We also did multivariate logistic regression. RESULTS: A total of 75 seizure group patients and 78 syncope group patients were studied. There were significant between group differences in total CO2 content, LDH, ammonia, pH, bicarbonate and lactate. AUC (area under the curve) values for blood tests were: 0.720 (tCO2), 0.686 (LDH), 0.737 (ammonia), 0.798 (pH), 0.710 (bicarbonate) and 0.770 (lactate). All AUC values were increased as the time from symptoms to ED arrival was shortened (except for LDH). On multivariate logistic regression analysis, pH (OR=9.587, 95% CI, 2.573-35.723. p=0.001) and ammonia (OR=3.932, 95% CI, 1.324-11.613, p=0.014) were statistically significant independent predictive factors. CONCLUSION: Serum laboratory testing and ABGA, especially serum ammonia and arterial pH, may be helpful for differentiating between generalized seizure and syncope in patients who experience a transient loss of consciousness and who come to the ED within 4 hours after the appearance of symptoms. But further evaluation is needed.
Ammonia ; Area Under Curve ; Bicarbonates ; Blood Gas Analysis ; Diagnosis, Differential ; Emergencies ; Hematologic Tests ; Humans ; Hydrogen-Ion Concentration ; Lactic Acid ; Logistic Models ; ROC Curve ; Seizures ; Sensitivity and Specificity ; Syncope ; Tertiary Healthcare ; Unconsciousness