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Aim

Hydrocephalus surgery with a ventriculoperitoneal shunt is a life-saving treatment, but it has been associated with a high risk of dysfunction and complications. We investigated whether infants who received a ventriculoperitoneal shunt below 12 months of age had a reduced risk of acute shunt dysfunction if they were included in a structured follow-up programme.

Methods

A population-based, retrospective chart review was performed at Uppsala University Children's Hospital, Sweden. Patients were identified by International Classification of Diseases, Tenth Revision codes and surgical codes from 1 January 2005 to 31 December 2019. Those who received the structured follow-up programme from April 2012 were compared with historical controls.

Results

We identified 95 patients (66% male): 47 in the follow-up group and 48 controls. Their mean age was 2.6 (range 0–12) months. There was a high 44% acute shunt dysfunction rate during the first year after primary surgery: 38% in the follow-up group and 50% in the control group (p = 0.25). The difference was not significant.

Conclusion

The structured follow-up programme was not associated with a significant reduction in acute shunt dysfunction. Predictive models could help to identify patients at risk for shunt dysfunction and complications and improve surveillance and follow-up programmes.

Study designCase report.ObjectiveTo present two cases of young children with Hyaline Fibromatosis Syndrome and their oral and maxillofacial manifestations.MethodsThe different oral and maxillofacial manifestations were clinically examined in detail. The patients were treated with surgical excisions of their gingival hyperplasias and soft tissue tumors of the head.ResultsRelief of pain from ears, scalp and intraoral was obtained, resulting in a normal eating and nutritional habits despite absence of teeth. Improved esthetics.ConclusionThis paper underscores the importance of early diagnosis and prompt therapeutic interventions in managing Hyaline Fibromatosis Syndrome. This report contributes to the growing body of knowledge regarding this rare disorder and emphasizes the importance of a multidisciplinary approach in achieving favorable outcomes for patients afflicted with HFS.

Aims: In a cohort of 45 children and adolescents diagnosed with idiopathic intracranial hypertension (IIH), our main aims were to investigate patient delay, lead time to final diagnosis, and adherence to current diagnostic guidelines.

Methods: This population-based, retrospective, single-center cohort study was performed at Uppsala University Children's Hospital, Sweden, a tertiary referral center for children and adolescents with rare and/or complicated neurologic disease. Patient data were retrieved from the local registries for patients filling the following criteria: age (0-17.99 yr), study period (2000-2020), and International Classification of Diseases code G93.2 (IIH). Medical records from pediatric, neuropediatric, ophthalmology, and neurosurgery departments were scrutinized. All included patients met the Friedman criteria.

Results: Fifty-one percent of the patients sought medical advice within 1 month of symptom debut, 23% were seen within 1 to three months, and 26% after three months. A final diagnosis of IIH was reached within 48 hours in 60%, within two weeks in 80%, and within four weeks in 89% of patients. Visual fields, color vision, and complete ancillary laboratory investigations to exclude secondary etiologies were performed in 62%, 47%, and 59% of patients, respectively.

Conclusion: The clinical presentation of IIH in children and adolescents may range from acute fulminant symptoms, to a more insidious or even chronic presentation with long-term headache. Although a majority of patients received a correct and prompt diagnosis, lead time to final diagnosis and adherence to diagnostic care guidelines might be improved. A higher awareness and knowledge of the condition may achieve this.

Background: Ethosuximide and other anti-epileptic drugs have been reported to cause idiosyncratic reactions such as lupus-like syndromes, with elevated antinuclear antibody (ANA) levels. Herein, we present a case of a girl who developed a very severe Raynaud's phenomenon reaction and anti-Scl-70 antibodies related to treatment with ethosuximide, due to juvenile absence epilepsy (JAE).

Case presentation: A 12-year-old girl was diagnosed with JAE and treatment with ethosuximide was initiated. Two and a half months later her fingers, digits II-V bilaterally, began to ache and were discolored, alternatingly white, blue, or normal-colored. Two weeks later, her fingers were bluish-black, aching severely, almost continuously. The family sought medical advice. Ethosuximide was halted and due to the severe symptoms, treatment with both prednisolone and intravenous iloprost was commenced. Laboratory tests revealed high ANA levels with anti-Scl-70 pattern and confirmed anti-Scl-70 antibodies. After a few weeks, she started to improve and the symptoms slowly decreased over five months. Anti-Scl-70 was still detectable four months after onset of symptoms, though she was much improved. After eleven months, repeated ANA analyses were completely negative.

Conclusion: Although extremely rare, it is important to recognize that severe Raynaud's phenomenon, threatening peripheral digital circulation, may occur as an idiosyncratic reaction to ethosuximide, raising concern over possible onset of vasculitis.

Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C>G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.

Acute disseminated encephalomyelitis (ADEM) is an immune-mediated demyelinating central nervous system disorder with predilection for early childhood. Delayed onset of ADEM is rare, and herein we present a previously healthy 5-year-old boy, with an unusual clinical course of ADEM with high intracranial pressure (ICP) and acute visual loss that was at first diagnosed as idiopathic intracranial hypertension without papilledema (IIHWOP). The boy underwent acute neurosurgical intervention with ventriculoperitoneal (VP) shunt using Miethke valve and sensor reservoir system and received high-dose steroid treatment with symptom relieve within days. This is the first case report using this system in such a young child, and we find it feasible and valuable also in younger children when VP shunt with ICP measurement is indicated.

Oral administration of medications to children requires age-appropriate dosage forms and strengths. In this study, we: (i) assessed the extent of oral dosage form manipulations, (ii) documented how it is carried out, and (iii) examined the attitudes and sources of information regarding the handling from healthcare professionals. Prospective reviews of electronic records, ward observations, and clinician surveys were performed at a paediatric neurology ward and a paediatric oncology ward in Sweden during April to May of 2018. Approximately 15% of oral medications were manipulated for the studied patient group (median age 12.9 years in oncology, 5.8 years in neurology) with approximately 30% of the patients having an enteral feeding tube. Manipulations were performed both to obtain an appropriate dose from, for example, a fraction of the original tablet or to obtain a powder that could be used to prepare a slurry for administration through enteral feeding tubes. Risks identified were related to patient safety such as cross contamination, suboptimal absorption/pharmacokinetics and inaccurate dose. When examining the working environment of nurses, we observed safe handling of hazardous substances but the nurses occasionally experienced stress and a fear of making mistakes due to absence of information. Paediatricians experienced a lack of time to search for proper information on manipulations. As a step towards improving safety in paediatric medication, we suggest the introduction of clinical pharmacists into the team and further evaluating the possibilities of using more ready-to-administer medications with necessary product information and pharmacovigilance support.