Diagnosis of AB variant, GM2 gangliosidosis.
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G(M2) Ganglioside↗
Biomedical subjects
S Kotagal
Publications and source records attributed to S Kotagal.
Extracorporeal membrane oxygenation for newborn respiratory failure.
Jugular vein-carotid artery extracorporeal membrane oxygenation (ECMO) was utilized in 22 newborns (16 male and 6 female) 1 to 12 days old with respiratory failure due to meconium aspiration (12 patients), diaphragmatic hernia (4), persistent fetal circulation (3), hyaline membrane disease (2), and Rh incompatibility (1). Prior to ECMO, all patients had alveolar-arterial O2 pressure gradients greater than 580 mm Hg (predicted mortality greater than 90%), weighed more than 1,800 gm, had a gestation period of longer than 35 weeks, and had no cerebral hemorrhage. The duration of ECMO was 41 to 310 hours (mean, 134.5 hours). Nineteen (86%) of the 22 patients survived ECMO. Death was caused by lung disease (2) and cerebral hemorrhage (1). Four other patients died 6 to 40 days after ECMO of pulmonary hypoplasia (1), pneumonia (1), cerebral edema (1), and hepatorenal failure (1). Complications during ECMO were few and easily managed. Fifteen infants (68%) are alive 1 to 18 months after ECMO. Three have neurological deficit (2 severe, 1 mild). Bayley Developmental Examinations in 4 survivors now more than 12 months old are normal. Extracorporeal membrane oxygenation is an aggressive but effective technique of life support in newborns refractory to conventional respiratory management. Potential complications of ECMO mandate strict aseptic technique, constant monitoring, and multidisciplinary patient management.
Female↗
AB variant GM2 gangliosidosis: cerebrospinal fluid and neuropathologic characteristics.
A child with AB variant GM2 gangliosidosis who had progressive intellectual deterioration and seizures commencing at the age of 12 months is described. Neuronal loss, and neuronal and astrocytic inclusions characteristic of the gangliosidoses, were seen on cortical biopsy. GM2 ganglioside was detected in the CSF. As CNS ganglioside accumulation in this condition occurs in the presence of normal leukocyte hexosaminidase A and B levels, spinal fluid assay for GM2 ganglioside may serve as a valuable aid in diagnosis.
Cerebral Cortex↗
Nocturnal myoclonus--a sleep disturbance in children with leukemia.
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Adolescent↗
Hypersomnia, bithalamic lesions, and altered sleep architecture in Kearns-Sayre syndrome.
An 11-year-old boy with Kearns-Sayre syndrome developed hypersomnia associated with bithalamic lesions and had complete absence of sleep spindles on a nocturnal polysomnogram.
Child↗
"Locked-in" state following Reye's syndrome.
A 12-year-old boy with Reye's syndrome had an initial course complicated by increased intracranial pressure and systemic hypotension. He subsequently developed brainstem damage producing permanent apnea and a "locked-in" state. Nevertheless, the normal architecture of sleep was retained, as was a high degree of intelligence.
Brain Stem↗
Nocturnal oxygen desaturation in sickle cell anemia.
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Anemia, Sickle Cell↗
Symmetric bithalamic and striatal hemorrhage following perinatal hypoxia in a term infant.
A full-term infant who demonstrated a prolonged period of obtundation following asphyxia at birth was found on cranial computed tomography (CT) to have hemorrhage limited exclusively to symmetric bithalamic and striatal areas. This pattern of discrete, symmetric nuclear hemorrhage has not so far been reported as a complication of birth asphyxia. It differs from the germinal matrix hemorrhage on one hand in having a later time of onset (between the 4th and 10th day of life). It is also distinct from the more common supratentorial parenchymal hemorrhages in full-term infants owing to its topography, consequent interruption of the thalamocortical arousal mechanisms, and prolonged period of obtundation.
Asphyxia Neonatorum↗
Neurologic, psychiatric, and cardiovascular complications in children struck by lightning.
The neurologic changes following lightning injury include coma with cerebral edema, inappropriate secretion of antidiuretic hormone (ADH), seizures, cerebellar ataxia, and painful sensory disturbances. Deteriorating neurologic status may warrant the use of intracranial pressure monitoring devices. Myocardial injury and transient hypertension are generally evident at the onset. Monitoring of the cardiac rhythm may be needed for as long as a week for late onset arrythmia. Abnormalities of memory, mood, and affect noted on recovery of consciousness may persist for months, necessitating close psychiatric and neurlologic follow-up.
Brain Diseases↗
Episodic headache as a manifestation of lead encephalopathy.
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Chelating Agents↗
Chorea as a manifestation of bilateral subdural hematoma in an elderly man.
As in a previously described child with unilateral subdural hematoma, bilateral subdural hematoma in the adult can also be associated with reversible chorea.
Aged↗
Auditory evoked potentials in bacterial meningitis.
Auditory evoked potentials obtained on infants and children recovering from bacterial meningitis are effective in early and reliable detection of sensorineural deafness, particularly in those who demonstrate absence of wave I.
Child, Preschool↗
Periventricular calcification following neonatal ventriculitis.
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Brain Diseases↗
Cerebral embryopathy in late first trimester: possible association with swine influenza vaccine.
An infant girl was born with cerebral malformations characterized by developmental arrest late in the first trimester of gestation. These features included persistent pontine flexure, cerebellum developed only around the rhombic lip, failure of migration of inferior olive, absence of basis pontis and of corticospinal and corticopontine tracts, and agenesis of olfactory bulbs. The cerebral cortex was thin and poorly laminated, and primary and secondary sulci had failed to form. The choroid plexus contained vascular malformations, hemorrhages, and infarcts. The leptomeninges contained foci of primitive mesenchyme. The mother had received an inoculation of swine influenza vaccine six weeks after conception, followed by a 2-week illness. The temporal relation to the timing of the cerebral malformation suggests a teratogenic effect of the vaccine, but may have been coincidental.
Adult↗
Congenital cervical spinal atrophy.
Three children presented at birth with axial hypotonia and symmetrical flaccid paresis limited to the upper extremities, and involving proximal and distal muscle groups. At birth, palmar flexion creases were poorly developed, and the hand muscles were atrophic. These clinical features, the muscle biopsy findings, and the nonprogressive course, suggest a vascular insult to the cervical spinal cord during gestation. The term, congenital cervical spinal atrophy seems most descriptive of these features.
Child↗
Sleep disorders in school-age children.
This article on school age children reviews relevant issues in sleep physiology, the classification of sleep disorders, their clinical and laboratory assessment, some common sleep disorders, the sleep-epilepsy relationship, as well as the impact of daytime sleepiness on higher cortical functions.
Adolescent↗
Conservative management of spinal epidural hematoma in hemophilia.
Two patients with hemophilia and spinal epidural hematoma, who were treated successfully with serial Factor VIII infusions, are reported. This form of conservative therapy may circumvent the need for decompressive laminectomy and its attendant complications in instances in which the neurologic deficit is mild or stable. Somatosensory evoked potential studies were useful in documenting spinal cord dysfunction in 1 of the 2 patients.
Bed Rest↗