Introduction: Although considered uncommon, pseudotumor cerebri syndrome (PTC) is a significant cause of headache among children and adults. However, the presenting symptoms may be different among diverse age groups. In the present study, we compared the risk factors and clinical presentation of PTC across life—from childhood to adulthood. Methods: A retrospective survey of PTC patients aged 7 years or older between 2011 and 2013 was carried out. Pooled analyses were performed comparing characteristics from our data with those of published data subdivided into 3 age groups: pre-young children, adolescents, and adults. Results: Our cohort consisted of 72 patients: 32 children (10 pre-young children, 22 adolescents) and 40 adults. Within the pre-young children age group: 20% were females versus 82% in the adolescent age group and 85% of the adult age group. Obesity was found in 10% of the young children group, 64% of the adolescents, and 80% of the adults. Headache was reported in 70% young children, 82% adolescents, and 83% adults. Pooled analysis of 1499 patients showed that young children with PTC tend to complain less about headache compared with older ones. Vomiting and visual impairment were most common among adolescents, and dizziness and tinnitus were most common in adults. Conclusion: PTC has different risk factors and clinical presentation throughout life. In young children, there is no gender preference and most patients are not obese. Risk factors in adolescents resemble those of adults.
The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presented with atypical phenotypic manifestation and protracted clinical course of CLN8 carrying a novel compound heterozygous variant at the CLN8 gene. Our patients developed a mild phenotype of CLN8 disease: as they presented mild epilepsy, cognitive decline, mild learning disability, attention-deficit/hyperactivity disorder (ADHD), they developed a markedly protracted course of motor decline. Bioinformatic analyses of the compound heterozygous CLN8 gene variants were carried out. Most of the variants seem likely to act by compromising the structural integrity of regions within the protein. This in turn is expected to reduce the overall stability of the protein and render the protein less active to various degrees. The cases in our study confirmed and expanded the effect of compound heterozygous variants in CLN8 disease.
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