Muscle weakness caused by an iodine-deficient diet: investigation of a nutritional myopathy.

Newborn rats raised on a commercially available iodine-deficient diet developed severe muscle weakness, affecting predominantly their proximal hind limbs, that electrophysiologically and morphologically was determined to be myopathic in type. Follow-up dietary studies, utilizing different combinations of vitamins, minerals, casein and elemental iodine, demonstrated that the myopathy was the result of a deficiency of multiple dietary constituents, particularly casein, and was not due to a deficiency of iodine alone. These findings were compared with those observed in earlier investigations of a variety of nutritional myopathies. In the laboratory study of animals raised on experimental diets, it becomes important to consider the possible contributions of multiple dietary deficiencies in the evaluation of any abnormalities found.

Juvenile diabetes mellitus and optic atrophy.

Nine patients with the syndrome of juvenile diabetes mellitus and optic atrophy exemplified the wide range of manifestations of this syndrome. The disease may occur as a recessively inherited or sporadic disorder and tends to have multi-system involvement. Hearing loss, diabetes insipidus, and evidence of cerebellar or central vesitbulo-ocular dysfunction are common.

Permanent visual impairment in childhood pseudotumor cerebri.

Contrary to statements in the literature, youth does not seem to confer protection from visual loss in pseudotumor cerebri. We examined five children and adolescents who suffered permanent loss of visual acuity or field in association with this disorder. All of them had impairment at the time of diagnosis, and two of the five developed further visual failure while under observation. Children and adolescents with pseudotumor should be kept under the same close ophthalmic surveillance as has been advocated for adults with this disease.

Seizures induced by singing and recitation. A unique form of reflex epilepsy in childhood.

A 2-year-old boy of above-average intelligence experienced seizures, manifested by ticlike turning movements of the head, which were induced consistently by his own singing--not by listening to or imagining music. His seizures were also induced by his recitation and by his use of silly or witty language such as punning. The neurologic examination showed only a right-sided Babinski's sign. Seizure activity on an EEG was present in both temporocentral regions, especially on the right side, and was correlated with clinical attacks. A computed tomographic scan was normal. Phenobarbital therapy did not reduce seizure frequency.

Colpocephaly: clinical, radiologic, and pathogenetic aspects.

Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. It has been considered to result from localized outpocketing of the ventricular cavity due to failure of thickening of overlying brain. Four new cases are presented here, including a child of near-normal development who appears to be the first reported case of colpocephaly with an associated chromosomal anomaly. Our patients support the view that colpocephaly is a disorder of diverse causation that can arise from a variety of degenerative or encephaloclastic insults to the developing brain.

The brain in infantile autism: are posterior fossa structures abnormal?

We conducted a detailed MRI study of posterior fossa structures in 13 autistic children, 10 without seizures and three with seizures, and 28 controls, 17 without seizures and 11 with seizures, using computer-assisted planimetry, and measured midsagittal areas of cerebellar vermal lobule group I-V, vermal lobule group VI-VII, the pons, and fourth ventricle height. There were no significant differences between autistic and control subjects in any of the four regions measured, or in the ratio of areas of vermal lobules VI-VII to I-V.

Neurologic sequelae of experimental febrile convulsions.

A study was designed to investigate the effects of experimentally produced hyperthermic seizures on the brain of the developing rat. Severty-nine newborn Sprague-Dawley white rats were divided into five groups and exposed to one of the following: Nonseizure-producing hyperthermia at 5 or 15 days (febrile controls), seizure-producing hyperthermia at 5 or 15 days, or no hyperthermia (afebrile controls). As the animals matured, seven developmental reflexes were tested and there were no differences found among the five groups in the ages at which these reflexes were acquired. At age 3 1/2 months, the ability of rats to adapt to a maze, and later to solve 12 maze problems, was studied. Although there was no significant difference in the amount of time required for any of the groups to adapt to the maze, there was a significant difference in the number of maze errors made by the different groups of rats. The mean error score for the control group was 118.5, compared with 183.0 (p less than 0.001), for rats with seizures at 5 days and 161.4 (p less than 0.001), for rats which convulsed at 15 days. It is apparent that experimental induction of a single hyperthermic seizure in the young rat interferes significantly with the animal's maze-solving ability at a later age.

Proglonged epileptic twilight states: continuous recordings with nasopharyngeal electrodes and videotape analysis.

Confusion, speech arrest, automatic behavior, and amnesia characterize the prolonged twilight states of both petit mal and psychomotor status. However, in psychomotor status two electroclinical phases were differentiated: (1) A continuous twilight state with partial responsiveness and reactive automatisms interrupted by (2) staring, total loss of responsiveness, and stereotyped automatisms. During the first phase, with reactive behavior, the EEG showed bilateral diffuse slowing. During the second phase, with stereotyped automatisms, there were spreading right temporal 4- to 12-Hz discharges. Petit mal status had one continuous twilight state, during which both stereotyped and reactive automatisms merged as 1.5- to 4-Hz spike-wave complexes, and bimedial temporal 4-Hz discharges' appeared in the EEG.

Symptomatic trigeminal neuralgia in a 5-year-old child.

Trigeminal neuralgia is a rare symptom in childhood. In the idiopathic variety, no objective neurological deficit is demonstrable, but in the symptomatic or secondary form, deficits of trigeminal function may be found. In the latter circumstance, underlying causative pathology must be looked for vigorously, as emphasized by the present case of symptomatic trigeminal neuralgia in a 5-year-old child, determined to be secondary to an infiltrating embryonal rhabdomyosarcoma.

The significance of the Babinski sign in the newborn-a reappraisal.

A study of the clinical significance and the stimulus methods used to elicit the Babinski sign in normal newborns has been carried out. Although the most frequent response to cutaneous nociceptive stimulation of the lateral sole in neonates was extension of the great toe, a small but significant number of flexor responses were obtained. Consequently, the Babinski sign has limited clinical usefulness as a reflex indicating the presence or absence of neurological disease in the newborn. In reviewing previous studies in the literature, it was apparent that the widely differing percentages of extensor plantars reported in newborns was related directly to differences in the technique of examination.

Reversal of delayed myelinogenesis in experimental hypothyroidism.

Neonatal hypothyroidism has been shown to induce delayed myelinogenesis in the developing rat brain. This delay in myelin formation is most prominent during the critical 3 - 4 week postnatal period and the heavy myelin fraction is more selectively affected. The experimental animals, however, continue active myelin formation and by 6 weeks post natum, they do not differ significantly from littermate controls. Myelin protein analysis by SDS acrylamide gels and densitometer methods revealed a decreasing proportion of high molecular weight protein and no significant change in either proteolipid or basic protein in developing myelin. The data suggest that neonatal hypothyroidism induces a reversible delay without qualitative change in myelinogenesis.

Myelination of brain in experimental hypothyroidism. An electron-microscopic and biochemical study of purified myelin isolates.

Myelin development has been studied in the neonatally hypothyroid rat brain by isolation and characterization of purified myelin preparations. The hormone deficiency results in a suppression of compact myelin formation and the persistence of a lighter possibly pro-myelin fraction. The appearance of myelin basic protein was markedly delayed in the hormone-deficient animals and this effect on the basic protein moiety may be responsible for the delayed myelinogenesis.

Progressive intracranial vascular disease with strokes and seizures in a boy with progeria.

Progeria, a rare genetic disorder, is characterized by severe growth failure, premature aging, and very early atherosclerosis with coronary artery and cerebrovascular disease. There has been no detailed description of progressive cerebrovascular changes in progeria or any attempted neurologic correlation of those changes. A 5-year-old boy developed signs of progeria at 4 months and hypertension at 4 years, treated with atenolol and dipyridamole. Left-sided seizures with a left hemiparesis occurred at 5 years. Magnetic resonance imaging (MRI) showed bilateral acute, subacute, and chronic cerebral infarctions. Magnetic resonance angiography disclosed severe stenosis of the left internal carotid artery. The child was also found to have an aortic valve vegetation and was anticoagulated. He subsequently developed right-sided seizures, and treatment with gabapentin was started. Later, severe stenosis also of the right internal carotid artery was found. MRI showed new left cerebral infarction. The child's neurologic symptoms almost certainly were caused by cerebral infarctions from progressive atherosclerosis of major intracranial vessels, but clinical-neuroradiologic correlations were imprecise. There were multiple cerebral infarctions of different ages, some asymptomatic, others ipsilateral to the child's neurologic findings. No therapy has halted progression of the child's cerebrovascular disease.

Acute hemorrhagic leukoencephalitis: recovery and reversal of magnetic resonance imaging findings in a child.

A case of acute hemorrhagic leukoencephalitis (AHLE) in a 6-year-old girl is reported. The presentation was typical for acute hemorrhagic leukoencephalitis, with acute onset of a rapidly progressive neurologic disorder with asymmetric involvement of brain, with polymorphonuclear predominant peripheral leukocytosis and cerebrospinal fluid pleocytosis. Cerebrospinal fluid findings not previously reported included elevation of IgG and the presence of myelin basic protein. Additional previously unreported findings were striking abnormalities on magnetic resonance imaging (MRI) of the brain, in contrast to normal findings on computed tomography (CT). The child was treated with high dose intravenous steroids and made a full recovery, with a parallel disappearance of all of her cerebrospinal fluid abnormalities and almost all of her abnormalities on MRI. Detailed examination of cerebrospinal fluid and MRI of brain should facilitate early diagnosis in other cases of suspected acute hemorrhagic leukoencephalitis and high-dose steroid therapy may lead to improved clinical outcomes.

Modified encephaloduroarteriosynangiosis as a surgical treatment of childhood moyamoya disease: report of five cases.

Moyamoya disease is an idiopathic disorder characterized by progressive occlusion of the internal carotid and anterior and middle cerebral arteries, with formation of an extensive abnormal collateral circulation at the base of the brain. Many neurosurgical procedures have been designed to bypass these occluded vessels. The results of one of these procedures, modified encephaloduroarteriosynangiosis was reviewed in five children followed for 3 1/2 to 19 1/2 years. Modified encephaloduroarteriosynangiosis performed unilaterally in one and bilaterally in four of the children, appeared to halt neurologic deterioration, despite angiographic progression, in four of the five children.

Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature review.

Argininemia, a rare autosomal recessive urea cycle disorder, is caused by a deficiency of arginase, with resulting elevated plasma arginine and ammonia levels. Reports to date have focused little on the neurology of this disorder or the efficacy of treatments. A MEDLINE search revealed 25 previously reported cases, to which we have added two brothers who presented with late onset progressive spastic diplegia. Though their degree of enzyme deficiency was comparable, the severity of their phenotypic abnormalities differed substantially. With dietary therapy, both showed improved cognitive and motor function. Late metabolic crises occurred in both, resulting in death of the less severely affected brother. Based on analysis of our clinical database, we report on the full spectrum of neurologic abnormalities seen in argininemia with particular focus on the accompanying progressive spastic diplegia and its response to treatment; progressive decline in head growth; distinctive neuroradiologic findings; and life-threatening later complications. Current and potential future therapies and long-term outcome are summarized.

Pressure-related torticollis: an unusual manifestation of pseudotumor cerebri.

A 9-year-old boy with pseudotumor cerebri who presented with neck pain and an accompanying torticollis is described. The patient exhibited bony abnormalities of the upper cervical spine and facial asymmetry that suggested a congenital torticollis. Reduction of the increased cerebrospinal fluid pressure by lumbar puncture resulted in a prompt and dramatic resolution of the cervical symptoms and signs. Increased cerebrospinal fluid pressure should be added to the list of those disorders that may give rise to reversible torticollis.

Tonic "seizures" in a patient with brainstem demyelination: MRI study of brain and spinal cord.

Tonic seizures are a poorly understood manifestation of demyelinating disease, first reported in 4 patients with multiple sclerosis. We describe a patient with tonic extension of the left limbs caused by a right-sided brainstem lesion as the first manifestation of demyelinating disease. A 19-year-old man was referred with a 4-month history of spontaneous attacks of mild paresthesias of the left arm and leg, followed by 15-45 s of rigid extension of the left limbs, occurring up to 25 times per day. Two months after onset, an MRI scan revealed areas of T2 abnormality in the lateral right cerebral peduncle and deep frontal white matter. The EEG was normal, including during hyperventilation which induced a typical episode. All attacks were successfully suppressed by carbamazepine, phenytoin, and valproate monotherapy. Serologic testing for toxoplasmosis, cytomegalovirus, Epstein-Barr virus, Lyme disease, and HIV was negative. Cerebrospinal fluid oligoclonal bands were absent but cerebrospinal fluid immunoglobulin G was mildly elevated (4.2 mg/dl). Over the next 30 months, serial MRIs revealed a normal spinal cord and persistence of the midbrain lesion, with resolution of some of the white matter lesions but reappearance of others. At 46 months, the midbrain lesion resolved on MRI, and the spasms no longer occurred spontaneously, nor could they be elicited by hyperventilation. While two previous reports have shown internal capsule lesions to underlie the tonic spasms in demyelinating disease, this is the first report in which a brainstem lesion has been causative.

Cerebral perfusion pressure monitoring in premature newborns.

Cerebral perfusion pressure (CPP), believed to be a major determinant of neurologic outcome, was monitored at the bedside of high-risk premature newborns during the first few days of life. Intraventricular hemorrhage was presumed to have occurred in only one of the seven infants and was associated with ventriculomegaly and early death. The other infants had good neurologic outcomes at age 18 months despite low mean CPPs (less than 30 mm Hg). These low CPPs were determined to be dependent on mean arterial blood pressures and not on intracranial pressures which were low in all infants (and even lower in more premature infants with apnea). Methylxanthine treatment of apnea of prematurity did not apparently change CPP, despite hypothetical effects on cerebral and peripheral vascular tone. Although fairly low CPP can be associated with good neurologic outcome, it may not be useful in monitoring newborn infants.

Central nervous system hemangiomatosis in early childhood.

Two cases of hemangiomatosis are reported, a girl of 3 years of age and a boy 2 years of age, both with central nervous system (CNS) involvement. In the first, the CNS lesions were asymptomatic; in the second, symptomatic. Magnetic resonance imaging was used both to identify the lesions and to follow their evolutions. In the first case, the CNS lesions involuted in parallel with those in skin and liver. In the second, while there was no obvious resolution of the CNS lesions, there was a decrease in the level of urine basic fibroblast growth factor, indicating the lesions were probably involuting. Serial magnetic resonance imaging studies and urine assays of basic fibroblastic growth factor have important roles to play in following CNS involvement in hemangiomatosis.