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. Neuroradiographic studies demonstrated two pathologic patterns: varying degrees of periventricular white matter infarction with migrational abnormalities observed with earlier demise of the co-twin, and multicystic encephalomalacia observed when demise occurred at or near term. Pathophysiology is uncertain and most likely multifactorial. Exsanguination injury to the survivor can occur acutely following co-twin demise, so urgent delivery may be appropriate at or near term.

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. The etiology is unknown, in spite of detailed neurologic, metabolic, and endocrine investigations. All patients had family histories positive for affective disorder. Melatonin treatment helped to regulate the coexisting chronic sleep disorders of 3 children but failed to eliminate the cycles. Antiepileptic drug treatment, lithium, sedatives, stimulants, tranquilizers, and light therapy were largely ineffective. The children's symptoms and signs fit the diagnostic criteria of a bipolar affective illness, as it was modified for patients with associated neurologic disability; therefore, the patients appeared to have a unique disorder that closely resembles or is a variant of rapid cycling affective disorder.

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. In the present patients, autosomal inheritance from the mother is possible, but other explanations should include familial, as well as genetic, factors. Family counseling should stress the sporadic nature of this entity but a recurrence in the same sibship is possible. Details of the clinical and magnetic resonance imaging studies are presented.

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. Total removal of the tumor was not possible. Review of congenital choroid plexus brain tumors reveals the location of this child's tumor in the fourth ventricle to be uncommon.

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. These features suggest that the infant may have had a disorder related to neuronal ceroid lipofuscinosis. Review of the literature failed to disclose a similar case.

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. Atypical features of tuberous sclerosis on computed tomography are reviewed and the possible pathogenesis of the lesion is discussed.

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. Unlike regular peritoneal dialysis, CAPD may not require phenytoin adjustment.

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. All six patients had a sensorineural hearing loss. Evidence of a mildly affected parent was found in three families. Progressive and severe facioscapulohumeral dystrophy accompanied by facial diplegia and sensorineural hearing loss may represent a separate genetic form of facioscapulohumeral dystrophy.

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. Obstetrical histories were normal in 5 of these patients. Their neurological examinations demonstrated lethargy and generalized hypotonia. Electroencephalograms demonstrated focal abnormalities in 4 infants. Computed tomographic scans in the first week of life showed infarctions in 6 newborns and in another at age 6 months. Neonatal stroke should be considered as a cause of seizures in a full-term newborn in spite of a normal obstetrical history and a nonfocal neurological examination.

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. The phenomenon of shortened TI during airway occlusion previously attributed to intercostal-to-phrenic reflexes was examined in the quadriplegic infant and in seven healthy term infants. The frequency of this response was increased when airway occlusion was delayed until after onset of inspiration. Shortening of TI by occlusion occurred no less frequently in the quadriplegic than in the control infants. The constant paradoxical inward movement of the rib cage during inspiration observed in the quadriplegic infant suggests that supraspinal innervation of intercostal muscle limits such paradoxical movements in the normal infant. The quadriplegic infant's end-expiratory volume was consistently above his passive functional residual capacity, as inferred from respiratory volume and pressure measurements.

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. Treatment with dopamine and serotonin precursors, L-3,4 dihydroxyphenylalanine and 5-hydroxytryptophan, respectively, was associated with improvement in temperament and motor tone and less frequent seizures. However, there was no improvement in gross motor function or language development.

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. Loading with L-cysteine hydrochloride and L-methionine further increased the excretion of sulfite and thiosulfate, but not inorganic sulfate excretion. Sulfite oxidase activity in skin fibroblasts average 1.07 nmol of cytochrome d reduced per milligram of protein per minute in control lines; it was not detectable (less than 5 per cent) in the patient. Activity was reduced in both parents (0.50 in the father and 0.32 in the mother)--compatible with autosomal recessive inheritance. Good biochemical responses to a low sulfur amino acid diet suggest that early treatment may benefit the patient.

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. Acute neonatal subdural hematoma is rare, but symptoms and signs are distinctive and the condition is remediable; immediate recognition and treatment is important.

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. Most infants developed paradoxical respiratory movements after occlusion, but this did not affect the strength of the load-compensatory response. An increase in response related to both gestational and postnatal age was observed. This increase could not be accounted for by variations in the amount of paradoxical and in-phase respiration and thus may represent an increase in the sensitivity of infants to chemical stimuli with maturation.

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. The variability of ventilation was increased in REM sleep, and inspiratory pressure at one-tenth of a second following airway occlusion was significantly increased in REM sleep. Effective elastance was similar in both sleep states. Measures that reflect activity of the Hering-Breuer reflex were significantly increased in non-REM sleep as compared with REM sleep. These results document the interdependence of sleep state and respiratory control mechanisms in full-term infants.