Patterns of cerebral injury and clinical presentation in the vascular disruptive syndrome of monozygotic twins.

The prenatal histories, clinical courses, and neuroradiographic studies of 8 infants who had survived the in utero demise of a homozygous co-twin were reviewed. Three distinct modes of clinical presentation were found: (1) severe neonatal encephalopathy with seizures; (2) a more benign neonatal course with onset of seizures and profound developmental disabilities within the first 6 months of age; (3) late infantile presentation with seizures. Only the third group had milder outcomes.

Neonatal serologic screening and early treatment for congenital Toxoplasma gondii infection. The New England Regional Toxoplasma Working Group.

Background: Most infants with congenital Toxoplasma gondii infection have no symptoms at birth, but many will have retinal disease or neurologic abnormalities later in life. Early detection and treatment of congenital toxoplasmosis may reduce these sequelae.

Methods: In Massachusetts since January 1986, and in New Hampshire since July 1988, newborns have been screened for intrauterine infection with T.

Rapid cycling in severely multidisabled children: a form of bipolar affective disorder?

A debilitating, regularly recurring, biphasic disorder is described in 6 severely multidisabled children. It was characterized by several days of lethargy, withdrawal, loss of abilities, irritability, and hypersomnolence followed or preceded by a high-energy state for several days during which the children slept very little, at times were euphoric, had improved mental ability, and were hyperactive. These cyclic episodes had been present for years but unexpectedly disappeared in one child.

Schizencephaly: case report of familial incidence.

Two half-siblings with schizencephaly are presented. They have the same mother who had a normal cerebral imaging study. Only one other kindred was found in which 2 siblings had this cerebral lesion.

Congenital choroid plexus papilloma of the fourth ventricle.

A newborn infant with marked hydrocephalus had a large papilloma of the choroid plexus originating in the fourth ventricle and infiltrating the brain stem. The computed tomographic (CT) scan appearance was distinctive, showing vascularity and marked enhancement with contrast medium. Histological confirmation was made from several surgical sites.

Unusual thalamic inclusions in an infant with progressive neurologic dysfunction and blindness.

A 25-month-old boy had a progressive neurologic disorder which started at two months of age and was characterized by seizures, blindness, partial deafness and severe hypotonic quadriparesis. Neuropathologic examination demonstrated the presence of intracytoplasmic neuronal inclusions which were entirely restricted to the thalamus. The inclusions had the histochemical staining characteristics of a glycolipid, were autofluorescent, and ultrastructurally consisted of concentric and parallel arrays of double membranes and curvilinear profiles.

Hyperdense cerebral lesion in childhood tuberous sclerosis: computed tomographic demonstration and neuropathologic analysis.

A child with focal intractable seizures and electroencephalographic evidence of a highly epileptogenic focus was found to have a high-density, wedge-shaped lesion in the left parietal region on cerebral computed tomography. The lesion extended from the ventricular to the pial surfaces and did not enhance after contrast infusion. Biopsy confirmed the diagnosis of tuberous sclerosis.

Phenytoin clearance by continuous ambulatory peritoneal dialysis.

Phenytoin clearance by continuous ambulatory peritoneal dialysis (CAPD) was studied in a three-year, 8-month-old child. This dialysis resulted in a clearance rate less than 1 ml/min. This is different from that reported in the literature for regular peritoneal dialysis for phenytoin overdose.

Facioscapulohumeral dystrophy presenting in infancy with facial diplegia and sensorineural deafness.

Six patients are described in whom facial diplegia occurred in the first year of life, with subsequent development of facioscapulohumeral dystrophy. All had severe progressive disability prior to adolescence. Facial involvement did not include extraocular muscles.

Seizures and cerebral infarction in the full-term newborn.

Cerebral arterial infarction is a more common cause of neonatal seizures than has been previously appreciated. In 50 full-term newborns with seizures studied, 7 had cerebral infarction which was the second most common definable cause of seizures. We describe these 7 full-term infants with cerebrovascular accidents who presented with focal or generalized seizures.

Computed tomography of Sturge-Weber syndrome in infants.

Computed tomographic findings in two infants with Sturge-Weber syndrome include calcification of the brain not visible on plain radiographs. In both cases, the choroid plexus was very prominent, and, in one, a hemangioma of the choroid plexus was found at surgery. In the other, especially dense deposits of mineral were identified at surgery to be calcified branches of the middle cerebral artery.

Intercostal muscle reflexes and sleep breathing patterns in the human infant.

Breathing variability and apnea characteristic of rapid eye movement (REM) sleep was investigated in a newborn infant with complete interruption of intercostal to phrenic neural pathways due to intrapartem transection of the cervical spinal cord. Breath-to-breath variability in inspiratory duration (TI), breath duration (Ttot), tidal volume (VT), and ventilation (VI) was significantly greater in REM than in quiet sleep and was similar to the variability in these parameters seen in normal infants. In addition, brief periods of diaphragmeatic apnea were observed during REM sleep.

Dihydropteridine reductase deficiency associated with severe neurologic disease and mild hyperphenylalaninemia.

A deficiency of hepatic dihydropteridine reductase (DHPR) activity was found in a neurologically impaired infant with mild hyperphenylalaninemia and normal levels of hepatic phenylalanine hydroxylase. DHPR is required for the regeneration of tetrahydrobiopterin, an essential cofactor in aromatic amino acid hydroxylation, a necessary step in the biosynthesis of the neurotransmitters, dopamine and serotonin. Evidence for decreased synthesis of these transmitters in this patient was provided by the finding of reduced levels of homovanillic acid and 5-hydroxyindole acetic acid, metabolites of dopamine and serotonin, respectively, in the cerebrospinal fluid and urine.

Sulfite oxidase deficiency. Biochemical and clinical investigations of a hereditary metabolic disorder in sulfur metabolism.

Study of a 4 1/2-year-old boy with the unusual combination of acute infantile hemiplegia, ectopia lentis and the absence of homocystinuria showed large amounts of abnormal sulfur-containing metabolites (sulfite, thiosulfate and S-sulfocysteine) in the urine. Sulfite and S-sulfocysteine were also present in the plasma. His inorganic sulfate excretion was only 50 per cent of total sulfur, as compared with 75 to 95 per cent by controls.

Acute neonatal subdural hematoma following breech delivery.

We describe two term infants born by complicated breech deliveries, each of whom suffered an acute subdural hematoma. Both infants required repeated subdural taps; in one case a parietal burr hole was needed. Despite stormy neonatal courses, follow-up examination of the first infant at 26 months showed him to be normal, and in the other only a mild left esotropia was found at 22 months.

Respiratory response to airway occlusion in infants: sleep state and maturation.

The progressive respiratory response to occlusion of the airway at FRC was measured in a group of full-term and premature human infants. The sleep state of the full-term infants was shown to affect the response primarily through variations in the phase of thoracic and abdominal movements. The weakest responses were seen in those infants who demonstrated parodoxical respiration prior to occlusion.

Ventilation and sleep states in newborn infants.

Recent studies have shown that ventilation in the newborn period is affected by sleep state. We investigated various measures affecting ventilation using the single breath airway occlusion technique in ten healthy, full-term newborn infants. There was a significant increase in respiratory rate and in minute ventilation in rapid eye movement sleep compared to non-REM sleep, and there was no significant change in tidal volume between the two sleep states.

Spontaneous intracerebral haemorrhage in patients suspected of multiple sclerosis.

Two cases of spontaneous intracerebral haemorrhage in adolescent girls suspected of having multiple sclerosis are reported. Surgical evacuation of haematomas in the left thalamus and left side of the pons, respectively, was performed with excellent recovery in both cases. Some clinical and pathological aspects of small arteriovenous malformations are discussed and the pertinent literature reviewed.