Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

Oussoren, Esmée; Mathijssen, Irene M.J.; Wagenmakers, M. A. E. M.; Verdijk, Robert M.; Bredero-Boelhouwer, Hansje; Veelen, M.L.C. van; Meijden, Jan C. van der; Hout, J. M. P. van den; Ruijter, George J. G.; Ploeg, Ans T. van der; Langeveld, Mirjam

doi:10.1007/s10545-018-0212-1

Cited by 8 publications

(2 citation statements)

References 32 publications

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“…This finding may be related to early cranial suture involvement and GAG deposition. A previous study described that the majority of MPS patients have premature fusion of the cranial sutures [27]. In the present study, none of the patients were evaluated for craniosynostosis.…”

Section: Discussionmentioning

confidence: 80%

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Damar¹,

Derinkuyu²,

Kiliçkaya³

et al. 2020

Turk J Med Sci

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Background/aim: Mucopolysaccharidoses (MPS) are a group of hereditary metabolic diseases. The aim of this study was to share the previously unreported calvarial finding of internal hypertrophy of the occipitomastoid sutures (IHOMS) together with some other wellknown cranial MRI findings in this patient series. Materials and methods:A retrospective evaluation was conducted of 80 cranial MRIs of patients who had been diagnosed and followed up with MPS from 2008 to 2019 in our center. Of these patients, 11 had Hurler, 14 had Hunter, 24 had Sanfilippo, 15 had Morquio, 14 had Maroteaux-Lamy, and 2 had Sly disease. The cranial MRIs were assessed in two main groups as parenchymal intradural cranial MRI findings and extradural calvarial findings. Results:The most common parenchymal intradural cranial MRI findings were white matter signal alterations (n = 51, 63%) and perivascular space enlargements (n = 39, 48%). The most common extradural calvarial findings were J-shaped sella (n = 45, 56%) and tympanic effusion (n = 44, 55%). Although IHOMS was defined in a relatively small number of the patients (n = 12, 15%), the prevalence rate was high in MPS type I (n = 6, 54%). Conclusion:The abnormal cranial MRI findings of the MPS patients, including the newly identified IHOMS, may provide diagnostic clues to differentiate the type of the disease in radiological imaging.

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Section: Discussionmentioning

confidence: 80%

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Damar¹,

Derinkuyu²,

Kiliçkaya³

et al. 2020

Turk J Med Sci

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“…35,36 Metabolic conditions have been studied as well. Oussoren et al 37 studied the correlation between mucopolysaccharidosis and CS development in a pediatric cohort of 47 patients. Premature fusion was observed in almost 80% of their cohort, some of which showed symptomatic elevated ICP.…”

Section: Discussionmentioning

confidence: 99%

Sickle Cell Disease Association with Premature Suture Fusion in Young Children

Manrique

Toro-Tobon

Bade

et al. 2022

Plastic and Reconstructive Surgery - Global Open

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Background: Sickle cell disease (SCD) leads to the formation of an atypical hemoglobin tetramer with reduced capacity to carry oxygen. Although correlation between SCD and craniosynostosis (CS) has been mentioned, these are mostly small series or case reports. This article aimed to study any correlation between these entities in a large pediatric population. Methods: We retrospectively reviewed head CT scans of SCD patients from 0 to 8 years of age who required a CT for issues unrelated to their head shape between 2012 and 2020. We excluded patients with known history of CS or any CS-related syndrome, hydrocephalus, shunt placement, history of cranial surgery, or any reported cerebral or cranial shape abnormality. Results: Ninety-four CT scans were analyzed. The mean age at imaging was 4.48 ± 2.30 years. CS prevalence in this cohort was 19.1%. Analysis between independent variables and patients with +CS showed that SCD-associated vasculopathy, first-degree relatives with SCD, and the use of folic acid had a statistically significant association with CS development.Conclusions: Approximately 20% of pediatric patients with SCD developed CS. This association was higher in those patients who had a family history of SCD, used folic acid, and had SCD-associated vasculopathy. While the clinical impact of these findings needs more extensive study, centers that manage patients with SCD should be aware of the relatively high concordance of these diagnoses, vigilantly monitor head shape and growth parameters, and understand the potential risks associated with unidentified or untreated CS.

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Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

Oussoren

Wagenmakers

Link

et al. 2021

Bone

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Craniosynostosis affects the majority of mucopolysaccharidosis patients and can contribute to increased intracranial pressure

Abstract: Craniosynostosis occurs in the majority of MPS patients. Since the clinical consequences can be severe and surgical intervention is possible, skull growth and signs and symptoms of increased ICP should be monitored in both neuronopathic and non-neuronopathic patients with MPS.

Cited by 8 publications

References 32 publications

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Posterior fossa horns; a new calvarial finding of mucopolysaccharidoses with well-known cranial MRI features

Sickle Cell Disease Association with Premature Suture Fusion in Young Children

Hip disease in Mucopolysaccharidoses and Mucolipidoses: A review of mechanisms, interventions and future perspectives

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