Orofacial clinical features in Arnold Chiari type I malformation: A case series

Abstract

BackgroundArnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature.Material and MethodsA case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods.ResultsMean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm.ConclusionsACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words:Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

Malformação de Chiari e a sua correlação com transtornos orofaciais

“…Ainda, o diagnóstico pode ser puramente acidental em exames de imagem realizados após um traumatismo craniano, acidente ou infecção. Lewis et al revisaram retrospectivamente as ressonâncias magnéticas de 599 pacientes com cefaleia, e 24 (0,04%) foram incidentalmente diagnosticados com MCI (Mcvige;Leonardo, 2015;Mcclugage, 2019;Langridge, 2017, Arruda et al, 2018.…”

“…Após o diagnóstico ser estabelecido, o manejo médico inicial pode ser implementado com o uso de farmacoterapia, fisioterapia e injeções terapêuticas (Mcvige;Leonardo, 2015). Porém, a decisão do tratamento cirúrgico é baseada na gravidade e duração dos sintomas do paciente no momento da apresentação, ou seja, é mais considerado para os pacientes que apresentam sintomas progressivos e debilitantes, como aumento da pressão intracraniana, achados neurológicos Research, Society and Development, v. 10, n. 5, e41010515151, 2021 (CC BY 4.0) | ISSN 2525-3409 | DOI: http://dx.doi.org/10.33448/rsd-v10i5.15151 anormais, alterações na drenagem do líquido cefalorraquidiano e persistentes dores de cabeça, relacionadas a episódios de tosses, que interfiram na qualidade de vida (Arruda et al, 2018;Langridge, 2017;Oliveira, 2011). Este tratamento consiste na descompressão do forame magno e, embora haja debate em torno dos aspectos técnicos da cirurgia, os resultados e os riscos da cirurgia estão bem documentados (Langridge, 2017).…”

Diagnosis, Management, and Return to Sport of a 16-Year-Old Patient With a Chiari I Malformation: A Case Report and Literature Review

“…Arnold-Chiari malformations are a spectrum of congenital deformities of the hindbrain with four classifications and various co-morbidities. [1][2][3][4][5] Chiari I Malformations (CIM) are the most common of the four classifications and are classified as having greater than 5-mm caudal herniation of the cerebellar tonsils below the foramen magnum. 2 The exact etiology of CIMs remains uncertain, although researchers have proposed several theories.…”

“…These theories include (1) interrupted cranial development; (2) irregular cerebrospinal fluid (CSF) circulation altering intracranial pressure; (3) pressure on the brainstem and cerebellum caused by hydrocephalus. 3,5,6 The structural alterations due to CIMs create two distinct pathophysiological changes that result in symptom development. These mechanisms include direct compression of the brainstem and upper cervical spinal cord as well as obstruction of CSF circulation which can result in hydrocephalus or syringomyelia.…”

Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes

“…Four traditional subgroups of Chiari malformations (types CM 1–4) (Singh 2018 ; Holly 2019 ; Hidalgo 2020 ) are described despite the ambiguity between lumping and splitting makes hard the classification on clinical base (Luciano 2011 ; Hennekam 2012 ). The most common type 1 malformation (C1M) is characterized by the following magnetic resonance (MRI) findings: caudal displacement of the cerebellar tonsils more than 3–5 mm below the foramen magnum plane and a discrepancy between the anterior and posterior fossa and supratentorial crypt, with or without anomalies of the cranio-cervical junction (Bhimani 2018 ; de Arruda 2018 ; Lawrence 2018 ; Tam 2020 ). The signs of C1M can appear in adulthood or before adolescence, in the latter case with about 40% of subjects are under the age of 5 years, 25% of 5–10 years and 30% of 10–15 years (Tubbs 2007 ; McVige 2014 ; Piper 2019 ).…”