A síndrome de Morgagni-Stewart-Morel é caracterizada por espessamento da tábua interna do osso frontal, às vezes associado à obesidade e hipertricose. Afeta principalmente mulheres com mais de 35 anos de idade. A prevalência e o significado clínico da hiperostose frontal interna são desconhecidos. A transmissão é ligada ao X ou autossômica dominante.
Introdução
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A síndrome de Morgagni-Stewart-Morel é caracterizada por espessamento da tábua interna do osso frontal, às vezes associado à obesidade e hipertricose. Afeta principalmente mulheres com mais de 35 anos de idade. A prevalência e o significado clínico da hiperostose frontal interna são desconhecidos. A transmissão é ligada ao X ou autossômica dominante.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Genética e causas
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Diagnóstico
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Tratamento e manejo
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Publicações mais relevantes
Morgagni-Stewart-Morel Syndrome Presenting as Acute Neurological and Respiratory Distress.
Morgagni-Stewart-Morel syndrome (MSMS) is an uncommon disorder characterized by internal frontal hyperostosis, obesity, neuropsychiatric symptoms, and often associated endocrine abnormalities, notably hypothyroidism. Acute presentations are rare and can pose diagnostic challenges, especially in the prehospital setting. We describe a rare acute presentation of Morgagni-Stewart-Morel syndrome (MSM) involving neurological deterioration and respiratory failure, highlight the importance of early recognition and multidisciplinary management in improving outcomes. A 62-year-old woman presented with sudden-onset severe neurological impairment accompanied by acute respiratory distress, initially identified by prehospital emergency medical services. Prompt airway management, including endotracheal intubation and mechanical ventilation, enabled stabilization and urgent transfer to hospital care. Neuroimaging revealed characteristic internal frontal bone thickening, confirming the diagnosis of MSMS. A multidisciplinary approach targeting the neurological, endocrine, and respiratory components led to progressive clinical improvement and a favourable recovery. This case underscores the critical importance of early recognition of MSMS in acute, life-threatening presentations. Awareness of this rare syndrome among prehospital and emergency clinicians can facilitate timely intervention and improve patient outcomes. Morgagni-Stewart-Morel syndrome can exceptionally present with acute neurological and respiratory compromise, not just chronic neuropsychiatric symptoms. The presence of internal frontal hyperostosis, even if incidental, should prompt evaluation for underlying endocrine and neurological dysfunction.Timely airway management and correction of hormonal imbalances are essential to survival and recovery.Multidisciplinary collaboration is crucial in managing complex cases of Morgagni-Stewart-Morel syndrome, especially in acute settings where diagnosis is challenging.
Neuropsychiatric symptoms revealing Morgagni-Stewart-Morel syndrome: About 2 cases.
Internal frontal hyperostosis is a proliferation of the frontal bone that can occur in isolation or in association with neuropsychiatric, metabolic and endocrine symptoms, which together form Morgagni-Stewart-Morel syndrome. In this regard, we report the case of 2 patients meeting the criteria for this syndrome which is revealed by neuropsychiatric manifestations, and a review of the literature is carried out focusing on its pathophysiology.
Investigating hyperostosis frontalis interna: a computed tomography analysis and predictive model for Hershkovitz classification.
BackgroundAxial computed tomography (CT) cross-sections offer an accessible model for assessing diverse pathologies associated with hyperostosis frontalis interna (HFI) based on the Hershkovitz classification.PurposeTo delineate the CT characteristics of HFI, emphasizing a radiological description using the Hershkovitz classification. It investigated whether the Hershkovitz classification can be predicted using density, a variable unexplored in the literature. HFI thickness and the presence of concurrent hyperostosis beyond the frontal bone (HBFB) were evaluated across varying degrees of the Hershkovitz classification.Material and MethodsThis retrospective study evaluated characteristics of HFI on CT. Each case was assigned a Hershkovitz classification. Density and thickness of the HFI along with the presence of concurrent HBFB were evaluated and correlated with the Hershkovitz classification.ResultsAxial CT of 77 patients with HFI was evaluated. Patient characteristics including sex were uncorrelated with CT measurements (P > 0.25) and Hershkovitz classification (P > 0.06). Increasing HFI thickness was associated with a higher Hershkovitz classification (odds ratio [OR] = 1.863, 95% confidence interval [CI] = 1.452-2.389; P < 0.001), and increasing density of HFI was associated with a lower Hershkovitz classification (OR = 0.995, 95% CI = 0.992-0.998; P = 0.002). Higher Hershkovitz classification was also found to be associated with the presence of concurrent HBFB (OR = 31.694, 95% CI = 6.483-154.938; P < 0.001).ConclusionIn our cohort, Hershkovitz classification on axial CT correlated with increased HFI thickness, presence of HBFB, and lower HFI density.
Morgagni-Stewart-Morel syndrome presenting with neurological symptoms: a case report.
Morgagni-Stewart-Morel (MSM) syndrome is characterized by the thickening of the frontal bone of the skull (hyperostosis frontalis interna) obesity, neurological symptoms, and hypertrichosis. We present the case of a 76-year-old patient who complained of confusion, extreme irritability, and headache and was diagnosed with MSM based on examination, imaging, and test results.
Hyperostosis Fronto-Parieto-Occipitalis: A Cadaveric Case Report.
Hyperostosis of the skull is a rare bone dysplasia described in disorders such as hyperostosis cranialis interna (HCI) and hyperostosis frontalis interna (HFI). Other syndromes presenting with hyperostosis include Morgagni-Stewart-Morel (MSM) and Troell-Junet. HCI is an abnormal hyperostosis of most endosteal skull and calvarium surface regions. A more specific hyperostosis, HFI, is an unusual bone growth based on its volume and porosity; it is primarily located bilaterally on the frontal portions of the calvarium. However, the hyperossification does not cross the superior sagittal sinus. Upon cadaveric dissection, we found hyperossification beyond the frontal area, extending to the parietal and occipital bones with the significant characteristic of no midline interference. Hyperossification results in gross indentations on the corresponding frontal, parietal, and occipital hemispheric brain tissues. This report discusses possible differentials for this rare cadaveric finding of frontal, parietal, and occipital bone hyperostosis. This case report includes some major characteristic features indicative of HCI and HFI with some interesting variations and features suggestive of MSM and Troell-Junet syndromes. Due to the lack of patient history and medical records, no further conclusions about clinical differentials, symptoms, or causative syndromes could be drawn; further research needs to be conducted on HCI, HFI, and related syndromes to understand their presentations better.
Publicações recentes
Morgagni-Stewart-Morel Syndrome Presenting as Acute Neurological and Respiratory Distress.
Neuropsychiatric symptoms revealing Morgagni-Stewart-Morel syndrome: About 2 cases.
Investigating hyperostosis frontalis interna: a computed tomography analysis and predictive model for Hershkovitz classification.
Hyperostosis Fronto-Parieto-Occipitalis: A Cadaveric Case Report.
Morgagni-Stewart-Morel syndrome presenting with neurological symptoms: a case report.
📚 EuropePMC42 artigos no totalmostrando 8
Morgagni-Stewart-Morel Syndrome Presenting as Acute Neurological and Respiratory Distress.
European journal of case reports in internal medicineNeuropsychiatric symptoms revealing Morgagni-Stewart-Morel syndrome: About 2 cases.
Radiology case reportsInvestigating hyperostosis frontalis interna: a computed tomography analysis and predictive model for Hershkovitz classification.
Acta radiologica (Stockholm, Sweden : 1987)Hyperostosis Fronto-Parieto-Occipitalis: A Cadaveric Case Report.
CureusMorgagni-Stewart-Morel syndrome presenting with neurological symptoms: a case report.
Journal of Yeungnam medical scienceMorgagni Stewart Morel syndrome revealed by neuropsychiatric symptoms.
Revue neurologiqueFinding of Hyperostosis Frontalis Interna During the Autopsy Procedure: Forensic Issues.
Journal of forensic sciences[Morgagni-Stewart-Morel syndrome. Case report and review of the literature].
Revista medica del Instituto Mexicano del Seguro SocialAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Morgagni-Stewart-Morel Syndrome Presenting as Acute Neurological and Respiratory Distress.
- Neuropsychiatric symptoms revealing Morgagni-Stewart-Morel syndrome: About 2 cases.
- Investigating hyperostosis frontalis interna: a computed tomography analysis and predictive model for Hershkovitz classification.
- Morgagni-Stewart-Morel syndrome presenting with neurological symptoms: a case report.
- Hyperostosis Fronto-Parieto-Occipitalis: A Cadaveric Case Report.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:77296(Orphanet)
- OMIM OMIM:144800(OMIM)
- MONDO:0007766(MONDO)
- GARD:8593(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q9178742(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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