Biomedical subjects
Publications and source records attributed to J E Jan.
Vaccine-acquired poliomyelitis developed in a nonimmunized 10-month-old boy. At age 4 years, ataxia-telangiectasia was recognized. We conclude that the occurrence of vaccine-related poliomyelitis warrants a detailed assessment of immunity, and that, in patients with ataxia-telangiectasia, the use of live vaccines may be hazardous, even in those with apparently normal immunity.
A four-year-old boy developed complex visual hallucinations consisting of moving figures, animals and other familiar objects one week after becoming totally blind. This followed a six-month period of gradually deteriorating vision and was precipitated by the debulking of a large optic nerve glioma. Although visual hallucinations are well recognised in adults with visual loss, secondary to both ophthalmological and neurological causes, they have not been reported in young children.
Congenital motor nystagmus (CMN) can be familial or non-familial. The expressivity of CMN is so variable that in one affected member of the family the oscillations are obvious, while in the others the nystagmus could be overlooked even by the patients themselves. In spontaneous cases the proof of heredity might be discovered by an ophthalmological examination or eye movement recordings of other family members. Our multidisciplinary studies of 27 children with CMN suggests that a neurodevelopmental assessment can also be valuable in establishing a diagnosis of heredity. Our studies suggest that the hereditary form of CMN is free from neurodevelopmental problems, while the non-familial form is not. Therefore, children with spontaneous CMN could be referred for neurodevelopmental evaluation in order to establish a more accurate diagnosis.
Alström disease is a rare disorder; less than 20 cases have been reported. An 11-year-old girl is described with this condition. She has pigmentary retinopathy, sensory neural deafness, obesity, Type II diabetes mellitus, hyperlipidemia, and acanthosis nigricans. However, in addition she developed hepatic dysfunction, pathologically similar to chronic active hepatitis. This may be a further, previously undescribed systemic manifestation of Alström disease.
Three children with congenital hydrocephalus are described in whom increased intracranial pressure was associated with severe, long-lasting cortical visual impairment. Following shunt revisions or reconstructive craniotomies, visual improvement began within hours. It is speculated that increased intracranial pressure can occasionally result in chronic hypoperfusion of the parietal-occipital lobes, either due to posterior cerebral artery compromise secondary to transtentorial pressure gradient or to direct compression of cerebral tissues.
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This study assessed the prevalence and characteristics of light-gazing by all visually impaired children referred during a 2 1/2-year period. Light-gazing (compulsive staring into lights) is one of the many clinical signs of cortical visual impairment (CVI), and in the present study it occurred in 60 per cent of children with CVI. The authors believe that light-gazing by any child with ocular lesions indicates some degree of CNS involvement. Visually impaired children who flicker their fingers in front of their eyes against a light source demonstrate an extension of this compulsive behaviour. This and other studies suggest that blind mannerisms have specific neuropathological substrata and therefore are useful clinical signs.
Rapid, horizontal, pendular head oscillations were observed in 18 visually impaired children with nystagmus during intense visual fixation, and the characteristics of this behaviour were analysed. Head tilting and eye deviations also occurred in 14 of the children. Their symptoms and signs resembled spasmus nutans. Head shaking appeared to be a voluntary, learned, neurovisual adaptation to improve visual acuity. Accurate simultaneous recordings of eye and head movements are required to understand the pathophysiological significance of these head oscillations.
Important neurological, developmental and cognitive differences exist between the visually impaired and the sighted. Unless parents, health professionals, educators and other caregivers understand the differences, serious problems may arise. Certain aspects of development in visually impaired children have consequences for habilitation and rehabilitation.
Computed tomography (CT) of the brains of 70 children with permanent cortical visual impairment (CVI) and of 25 children who recovered from their cortical visual loss were analysed and the findings were correlated with clinical signs and symptoms. The 70 children with CVI were divided into groups depending on the known or suspected pathophysiology of CVI. Asphyxia caused permanent CVI in 34 children, of whom 16 were preterm, 17 were term and one lost vision later in life. Congenital brain malformations were the second largest group, followed by trauma, infections and shunt failure. 25 children recovered their visual acuities, but six of them were left with homonymous hemianopia. The results identified various clinical characteristics of the groups. CT scanning was helpful in understanding the pathophysiology of CVI, and provided useful information for the prognosis of visual recovery.
We describe a 16-month-old girl with Joubert's syndrome (JS), congenital ocular fibrosis, and histidinemia. Abnormal respiration, ptosis, and minimal eye movements were observed in the neonatal period. Intraoperative examination of the eyes later demonstrated severely restricted eye movements and abnormal insertions and fibrosis of the extraocular muscles. Computed tomography of the head revealed absence of the corpus callosum and brain stem. Histidine levels were elevated in the blood, urine, and cerebrospinal fluid. The patient was ataxic and developmentally delayed. To our knowledge, the association of JS with congenital ocular fibrosis has not previously been described. This report indicates that jerky eye movements are not an invariable finding in JS.
The long-term effects of intrauterine transfusion (IUT) are still being assessed since the procedure was first reported in 1963. Therefore, we undertook a follow-up study on the survivors of 57 infants who received IUT's between 1966 and 1975. Forty-two infants were born alive, but 15 died in the neonatal period. Overall survival was 27/57 (48%). An extensive follow-up examination was carried out at age 22 months to 10 years in 21/27 survivors. Height was below the third percentile in one child and head circumference above the mean and 2 SD in another. Of 21 children, 19 had normal vision, one was slightly myopic, and one had hyperopia. One child had unilateral high-frequency hearing loss. All had normal EEG's and none have mental retardation but 2/21 have "major" and 6/21 have "minor" neurologic signs. No evidence of passive antibody transfer was found, but minor disturbances of immunoglobulin levels were present.
This report describes the clinical course of a 16-year-old Canadian-born Chinese boy who has progressive rubella panencephalitis. The progression, the lack of response to 'Isoprenosine', and the additional finding of myopathy are discussed. The clinical and pathological features of this rare, progressive neurological disorder are also summarized. In view of the last major rubella pandemic occuring in the mid-60s, it is likely that during the next few years physicians will diagnose an increased number of patients with this distinct neurological entity.
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A pedigree with a new form of hereditary sensory neuropathy is described. Ataxia and scoliosis rather than loss of pain and ulcerating acropathy are the principal clinical feature. Analysis of the pedigree suggests a dominant mode of transmission with variable age of onset and perhaps reduced penetrance.
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During the course of investigating a 10-year-old boy because of progressive deterioration of intellectual functioning, ataxia, and hemiplegia, an absence of serum hexosaminidase activity was noted. A skin biopsy examined by electron microscopy showed axonal accumulations of dense osmiophilic deposits. Because of the patient's age at onset and the slowly progressive nature of his ilness, we are reporting an atypical juvenile case of Sandhoff disease.