Abstract:The coming of magnetic resonance imaging (MRI) into clinical practice added advances in understanding the white matter diseases in children 1 . Previously, white matter and metabolic diseases were found to have a relatively specific pattern that could help in differential diagnosis, and primary defects in many inborn leukoencephalopathies have been elucidated including disorders from lysossomal storage, amino and organic acids, muscle and mitochondrial dysfunction 1,2 . Recent reports have described an apparen… Show more
“…Congenital cytomegalovirus infection also shows a similar diagnostic pattern of neuroradiological features, but hearing loss occurs during the second year of life and not usually at birth. 7 All these cases describe children with white matter abnormalities and significant psychomotor retardation. In contrast, the child in the present study did not have any motor disability or intellectual impairment despite having almost similar neuroradiological abnormalities.…”
Background
Cochlear implantation candidacy criteria have continued to evolve over the years, and cochlear implantation is possible with many inner-ear and brain anomalies with good hearing and linguistic outcomes. Cystic leukoencephalopathy without megalencephaly is a rare disease in children, with only 30 cases reported in the literature, but it is associated with hearing loss in only three cases. Radiological investigations can help in diagnosing this rare entity before proceeding with cochlear implantation.
Case Report
A four-year-old female child born out of consanguinity with normal psychomotor development, bilateral sensorineural hearing loss and an incidental magnetic resonance imaging finding of cystic leukoencephalopathy without megalencephaly underwent successful cochlear implantation. Her post-operative period was uneventful with successful mapping of the cochlear implant.
Conclusion
This is the first reported case of cystic leukoencephalopathy without megalencephaly and with sensorineural hearing loss in which cochlear implantation was performed successfully. White matter and temporal lobe abnormalities should not deter paediatric cochlear implantation.
“…Congenital cytomegalovirus infection also shows a similar diagnostic pattern of neuroradiological features, but hearing loss occurs during the second year of life and not usually at birth. 7 All these cases describe children with white matter abnormalities and significant psychomotor retardation. In contrast, the child in the present study did not have any motor disability or intellectual impairment despite having almost similar neuroradiological abnormalities.…”
Background
Cochlear implantation candidacy criteria have continued to evolve over the years, and cochlear implantation is possible with many inner-ear and brain anomalies with good hearing and linguistic outcomes. Cystic leukoencephalopathy without megalencephaly is a rare disease in children, with only 30 cases reported in the literature, but it is associated with hearing loss in only three cases. Radiological investigations can help in diagnosing this rare entity before proceeding with cochlear implantation.
Case Report
A four-year-old female child born out of consanguinity with normal psychomotor development, bilateral sensorineural hearing loss and an incidental magnetic resonance imaging finding of cystic leukoencephalopathy without megalencephaly underwent successful cochlear implantation. Her post-operative period was uneventful with successful mapping of the cochlear implant.
Conclusion
This is the first reported case of cystic leukoencephalopathy without megalencephaly and with sensorineural hearing loss in which cochlear implantation was performed successfully. White matter and temporal lobe abnormalities should not deter paediatric cochlear implantation.
The authors encourage the combined interpretation of these features in the herein proposed approach that confidently predicted the final diagnosis in this particular group of disorders associated with ATL cysts.
Hereditary ataxias are a group of genetic disorders that are progressive and heterogeneous. The purpose of this study was to develop a practical and time-efficient approach to diagnosing childhood hereditary ataxias by analyzing characteristics and final diagnosis at a tertiary referral clinic for pediatric neurology. 196 patients admitted to the pediatric neurology department were included. The medical records were examined for demographic features, neurological, laboratory, electrophysiological, cranial imaging, and pathological findings, and for genetic studies. Patients were divided into two groups based on whether a final diagnosis was made. The undiagnosed and diagnosed groups consisted of 157 (81.1%) and 39 (19.9%) patients, respectively. The two groups differed in terms of levels of history of consanguineous marriage and mental and motor development before diagnosis, absence of deep tendon reflexes, and the presence of polyneuropathic changes detected by electromyelography (EMG), abnormal visual evoked potentials (VEPs), electroretinography (ERG), and muscle biopsy. To the best of our knowledge, this is the first study involving a large spectrum of diseases related to autosomal recessive ataxias in childhood in Turkey. One out of five patients with hereditary childhood ataxias can be diagnosed with clinical and laboratory and electrodiagnostic examination, especially with the help of imaging facilities, while genetic analysis is not possible for every child. Cranial magnetic resonance imaging followed by EMG provides the most important clues for the diagnosis of hereditary childhood ataxias.
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