Humans ; Infant, Newborn ; Spasms, Infantile ; diagnosis ; therapy

OBJECTIVETo explore the characteristics of various seizure types in infantile spasm (IS) and to recognize the clinical and electrophysiological differences among spasm, myoclonic and tonic seizures.

METHODSTotally 681 seizures of 8 infants with IS were analyzed, including 20 episodes of non-cortical myoclonus which were finally ruled out by video-electroencephalogram-electromyogram polygraphic recordings (VEEG-EMG) and off-line analysis of jerk-locked back averaging (JLA). As a control, the data of 58 myoclonic seizures collected from an infant with Aicardi syndrome within two months before his typical clinical presentations of IS were also analyzed.

RESULTSThree types of seizures were recorded from the 8 infants, including spasm, myoclonic and tonic seizures with the incidence of 94.4%, 4.5%, and 1.1%, respectively. Spasms were mostly presented as body muscle contraction axially, which often occurred in clusters and evolved in a crescendo-decrescendo manner; 85.7% of them lasted for 0.4 - 3.0 s and 14.3% for 3 - 7 s. In addition, there were 273 seizures which were identified as subtle spasms according to their ictal EEG with high voltage slow wave (HVS) and fast wave bursts in most. There was no constantly time-locked EEG correlating to spasms even when JLA was applied for analysis. Myoclonic seizures were shock-like muscle constraction lasting for less than 400 ms with or without visible epileptic discharges in its ictal EEG. However, there was a time-locked cortical discharge discerned by JLA in epileptic myoclonus. Tonic seizures were consisted of sustained muscle contractions involving limbs and trunk, lasting for more than 3 s. Its ictal EEGs were more likely low amplitude fast waves and medium amplitude theta activities. Some spasms, named as tonic spasm, could be distinguished from tonic seizure according to the seizure duration which was always less than 2 s in tonic spasms and their different EEG patterns.

CONCLUSIONSThere were various seizure types in IS but spasm was the predominant one. With polyneuroelectrophysiological tests including EEG-EMG and JLA, it would be much helpful to precisely recognize the different common seizure types including spasm, tonic spasm, myoclonic and tonic seizure during infancy which is important for the diagnosis, classification and treatment of infantile epilepsy.

Brain ; physiopathology ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; Female ; Humans ; Infant ; Male ; Seizures ; diagnosis ; Spasm ; diagnosis ; Spasms, Infantile ; diagnosis ; physiopathology ; Videotape Recording

Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Prognosis ; Spasms, Infantile ; diagnosis ; Time Factors

PURPOSE:Infantile spasm is the most important epilepsy syndrome that brings catastrophic results in childhood. Persistent spasms and hypsarrhythmia have been known to regress the brain maturation and development. Therefore, it is very important in these patients to find a way to achieve developmental progress as good as possible. The objective of this study was to compare the influence of various etiology on developemental outcome and to determine which therapy has a more favorable development outcome. METHODS:We reviewed 95 children diagnosed as infantile spasm between 1991 and 2005 at College of Medicine of Yonsei University and Sang-gye Paik Hospital. We compared possible factors to predict the developmental outcomes in terms of patient characteristics, etiology, seizure duration and seizure outcomes along with various treatment modalities such as antiepileptic drugs, steroid, ketogenic diet, and surgery. RESULTS:Mental retardation occured in 81(85.3%) of the patients with infantile spasms and 38(40.0%) suffered from propound mental retardation. In predicting the developmental outcomes, the most important factor was found to be the etiology. While only 13(56.5%) patients with cryptogenic infantile spasms had severe to profound mental retardation, 53(73.6%) patients with symptomatic etiologies did. Other factors shown to be associated with a good progress included high developmental scores at the onset, a short duration of spasms, an early effective control of spasms, early consideration of non-pharmacologic treatment such as ketogenic diet and surgery when the seizures filed to respond to antiepileptic drugs. CONCLUSION:This retrospective review suggests that it is possible to improve the developmental outcomes of infantile spasms by making correct etiologic diagnosis and providing early appropriate therapy chosen from variable treatment modalities.
Anticonvulsants ; Brain ; Child ; Diagnosis ; Epilepsy ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability ; Ketogenic Diet ; Retrospective Studies ; Seizures ; Spasm ; Spasms, Infantile*

Alexander disease (AD) is a rare leukodystrophy of the central nervous system of unknown etiology. AD is characterized by progressive failure of central myelination and the accumulation of Rosenthal fibers in astrocytes, and is inevitably lethal in nature. Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first decade. Its characteristic magnetic resonance imaging (MRI) findings have been described as demyelination predominantly in the frontal lobe. Moreover, dominant mutations in the GFAP gene, coding for glial fibrillary acidic protein (GFAP), a principal astrocytic intermediate filament protein, have been shown to lead to AD. The disease can now be detected by genetic diagnosis. We report the Korean case of an 8-month-old male patient with AD. He was clinically characterized due to the presence of psychomotor retardation, megalencephaly, spasticity, and recurrent seizures including infantile spasms which is a remarkable presentation. Demyelination in the frontal lobe and in a portion of the temporal lobe was demonstrated by brain MRI. Moreover, DNA analysis of peripheral blood showed the presence of a R239L mutation in the GFAP gene, involving the replacement of guanine with thymine.
Spasms, Infantile/*etiology ; *Mutation ; Male ; Magnetic Resonance Imaging ; Infant ; Humans ; Glial Fibrillary Acidic Protein/*genetics ; Electroencephalography ; Alexander Disease/complications/*diagnosis

OBJECTIVETo characterize the clinical feature of a child with infantile spasm, karyotype and molecular cytogenetic analyses were performed to investigate the cause of disease and choose a suitable prenatal diagnostic method for the couple with the child.

METHODRoutine G-banding was performed to analyze the karyotype of the patient and her parents, and molecular karyotyping was performed using SNP array. Confirmation and segregation studies were performed by fluorescence in situ hybridization (FISH).

RESULTThe patient presented with severe psychomotor retardation, epilepsy, muscular hypotonia, stereotypic behavior and facial phenotype characterized by bulging forehead, cupid-bow upper lip, large ears with prominent lobes and pronounced occipital protuberance. Subdural collection of fluid was shown in cranial CT scan, and frequent interictal epileptiform discharges and hypsarrhythmia was shown in EEG monitoring. Routine G-banding revealed a normal female karyotype. A 2.03 Mb deletion in 5q14.3 including MEF2C gene was revealed using SNP array, and the patient's molecular karyotype was arr 5q14.3 (87 538 430-89 565 757) ×1. FISH with locus-specific probe RP11-293L20 from the deleted region on metaphase preparations of the patient and her parents confirmed the de novo occurrence of the deletion.

CONCLUSIONThe microdeletion of 5q14.3 was the cause of infantile spasm in the patient. FISH confirmed the de novo occurrence of the microdeletion. SNP array should be chosen as prenatal diagnostic method for the couple with the child.

Child ; Chromosome Deletion ; Chromosome Structures ; Chromosomes ; Cytogenetic Analysis ; Epilepsy ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Infant, Newborn ; Karyotyping ; Phenotype ; Pregnancy ; Prenatal Diagnosis ; Spasms, Infantile ; genetics ; Syndrome

PURPOSE: Previous studies have shown that neurologic symptoms are dominant in patients with mitochondrial diseases, and most of these patients have seizure-related disorders. The epileptic classification of these patients as Lennox-Gastaut syndrome (LGS) is as high as 25%. This study aimed to investigate the clinical manifestations, diagnoses, treatments, and epilepsy in LGS, which is associated with mitochondrial disease. MATERIALS AND METHODS: A retrospective study was conducted on 372 patients who were diagnosed with mitochondrial disease between 2006 and 2016. Of these 372 patients, 40 patients diagnosed with LGS were selected, and they were classified into two groups based on the history of West syndrome. Patient characteristics were reviewed, and associations between clinical factors and outcomes after the treatment were analyzed. RESULTS: The proportion of individuals with mitochondrial disease with LGS with a history of West syndrome was 32.5%. Among the patients with mitochondrial disease with LGS, neonatal seizure (p=0.029), seizure as the first symptom (p=0.018), and generalized paroxysmal fast activity frequency on electroencephalogram (p=0.018) in the group with a history of West syndrome were statistically significantly high. The first symptom onset (0.6±0.4 yrs vs. 1.6±0.9 yrs, p=0.003) and first seizure onset (0.9±0.7 yrs vs. 3.9±3.1 yrs, p < 0.001) were significantly faster in patients with a history of West syndrome. CONCLUSION: Close monitoring of the medical condition and early intervention might improve the prognosis of individuals with mitochondrial disease with LGS and a history of West syndrome.
Child ; Classification ; Diagnosis ; Early Intervention (Education) ; Electroencephalography ; Epilepsy ; Humans ; Infant ; Infant, Newborn ; Mitochondrial Diseases* ; Neurologic Manifestations ; Prognosis ; Retrospective Studies ; Seizures ; Spasms, Infantile

OBJECTIVE: To detect mutation of NDP gene in a pedigree affected with Norrie disease. METHODS: Sanger sequencing was used to analyze the NDP gene at Xp11.3. Prenatal diagnosis was performed on amniotic fluid sample after the causative gene was detected. RESULTS: Sanger sequencing has revealed a c.2T>C (p.M1T) missense mutation of the NDP gene in the proband and the fetus. The same variation was not found in ClinVar and HGMD database. CONCLUSION The c.2T>C mutation of the NDP gene probably underlies the Norrie disease in this pedigree.
Blindness ; congenital ; Eye Proteins ; Female ; Genetic Diseases, X-Linked ; Humans ; Nerve Tissue Proteins ; Nervous System Diseases ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Retinal Degeneration ; Spasms, Infantile

Child, Preschool ; Diagnosis, Differential ; Electroencephalography ; Electroretinography ; Eye Movements ; Head Movements ; Humans ; Infant ; Infant, Newborn ; Nystagmus, Pathologic ; diagnosis ; etiology ; physiopathology ; Retinal Diseases ; diagnosis ; physiopathology ; Risk Factors ; Spasms, Infantile ; diagnosis ; etiology ; physiopathology ; Torticollis ; etiology ; physiopathology

Aicardi syndrome is a rare neurodevelopmental disease characterised by congenital chorioretinal lacunae, corpus callosum dysgenesis, seizures, polymicrogyria, cerebral callosum, chorioretinopathy and electroencephalogram abnormality. We present a case of Aicardi syndrome with callosal hypogenesis in a 4.5-month-old baby who presented with infantile spasms. Ophthalmoscopy revealed chorioretinal lacunae. The clinical and magnetic resonance imaging features were diagnostic of Aicardi syndrome.
Agenesis of Corpus Callosum ; diagnosis ; Aicardi Syndrome ; diagnosis ; Brain ; diagnostic imaging ; pathology ; Choroid ; abnormalities ; Cornea ; physiopathology ; Female ; Humans ; Infant ; Magnetic Resonance Imaging ; methods ; Malformations of Cortical Development ; diagnosis ; Ophthalmoscopy ; methods ; Radiography ; Retina ; abnormalities ; Spasms, Infantile ; diagnosis