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SGMS2 in primary osteoporosis with facial nerve palsy.

ABSTRACT: Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis with low bone mineral density and sclerotic doughnut-shaped lesions in the skull to a severe spondylometaphyseal dysplasia with neonatal fractures, long-bone deformities, and short stature. In addition, neurological manifestations occur in some patients. SGMS2 encodes sphingomyelin synthase 2 (SMS2), an enzyme involved in the production of sphingomyelin (SM). This review describes the biochemical structure of SM, SM metabolism, and their molecular actions in skeletal and neural tissue. We postulate how disrupted SM gradient can influence bone formation and how animal models may facilitate a better understanding of SGMS2-related osteoporosis.

SUBMITTER: Pihlstrom S

PROVIDER: S-EPMC10598846 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature

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SGMS2 in primary osteoporosis with facial nerve palsy.

Pihlström Sandra S Richardt Sampo S Määttä Kirsi K Pekkinen Minna M Olkkonen Vesa M VM Mäkitie Outi O Mäkitie Riikka E RE

Frontiers in endocrinology 20231011

Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis with low bone mineral density and sclerotic doughnut-shaped lesions in the skull to a severe spondylometaphyseal dysplasia with neonatal fractures, long-bone deformities, and short stature. In addition, neurological manifestations occur i ...[more]

PMID: 37886644

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Project description:Background There has been lot of speculation around the possible side effects associated with COVID vaccination and incidence of facial palsy is one of them. Bilateral facial palsy is less likely to be idiopathic as compared to unilateral facial nerve palsy and warrants further investigations to find any secondary cause. COVID 19 infection and the vaccinations for the same are also included in the unique list of differentials. Case report We report an interesting case of bilateral rapidly sequential facial nerve palsy following the administration of COVID vaccination that showed subsequent improvement. We provide literature review to report the current incidence of same, secondary to the vaccination as well the infection itself Case presentation Following the introduction of COVID 19 vaccine, there have been reports of various cranial nerve involvement including lower motor neuron type facial paresis. Bilateral facial palsy is less likely to be idiopathic as compared to unilateral palsy(23% vs 70%) and requires further work up to determine the etiology before determining to be idiopathic. Unilateral facial palsy(FP) has been reported in the Phase I and II trials for Pfizer and Moderna vaccine, with a total of 7 cases reported in these initial trials. To date, there is no direct evidence that these vaccines have increased the incidence of facial palsy as compared to adverse events reported with other vaccines or compared to COVID 19 infection itself. We report a unique case of bilateral lower motor neuron type facial palsy noted in a young male within hours of receiving the vaccine that later improved with treatment. Reports of simultaneous bilateral facial palsy after vaccine are rare with only few cases reported to date in literature. Conclusion In conclusion from current available literature, we would like to postulate that though there is a risk of facial nerve palsy following the vaccination, it is comparable to the risks associated with any other vaccinations and not been higher than the non-vaccinated population. The overall risk is higher with the actual COVID 19 infection itself as compared to the vaccine.

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SGMS2 in primary osteoporosis with facial nerve palsy.

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<i>SGMS2</i> in primary osteoporosis with facial nerve palsy.

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