Chiari I malformation associated with atlanto-occipital assimilation presenting as orthopnea and cough syncope: a case report and review of literature.
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ABSTRACT:
SUBMITTER: Mangubat EZ
PROVIDER: S-EPMC4110142 | biostudies-other | 2014 Aug
REPOSITORIES: biostudies-other
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Project description:Frontometaphyseal dysplasia 1 (FMD1) is a rare otopalatodigital spectrum disorder (OPDSD) that is inherited as an X-linked trait and it is caused by gain-of-function mutations in the FLNA. It is characterized by generalized skeletal dysplasia, and craniofacial abnormalities including facial dysmorphism (supraorbital hyperostosis, hypertelorism, and down-slanting palpebral fissures). The involvement of the central nervous system in patients with OPDSD is rare. Herein, we present the case of a 12-year-old boy with facial dysmorphism, multiple joint contractures, sensorineural hearing loss, scoliosis, craniosynostosis, and irregular sclerosis with hyperostosis of the skull. Brain and whole-spine magnetic resonance imaging revealed Chiari I malformation with extensive hydrosyringomyelia from the C1 to T12 levels. Targeted next-generation sequencing identified a hemizygous pathologic variant (c.3557C>T/p.Ser1186Leu) in the FLNA, confirming the diagnosis of FMD1. This is the first report of a rare case of OPDSD with pansynostosis and Chiari I malformation accompanied by extensive syringomyelia.
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Project description:BackgroundCardiac sarcoidosis (CS) accounts for a substantial morbidity and mortality. Early recognition of CS is important to prevent such detrimental consequences. A definite diagnosis of cardiac sarcoidosis remains challenging. Even after the diagnosis of CS is established, the appropriate dose and duration of corticosteroids in the treatment of CS have not been well-defined.Case summaryIn this report, we discuss a case of a 50-year-old man who presented with recurrent syncope. Electrocardiogram revealed sinus rhythm with left bundle branch block. Telemetry captured high-grade atrioventricular block. Coronary angiogram showed no coronary artery disease. Left ventriculography revealed left ventricular ejection fraction (LVEF) of 35-40%. A dual-chamber pacemaker was implanted. Cardiac magnetic resonance revealed mid-myocardial scarring suggestive of sarcoidosis. Computed tomography of the chest showed lymphadenopathy. Transbronchial biopsy was unrevealing; however, mediastinoscopy and lymph node biopsy showed non-caseating granulomas diagnostic of sarcoidosis. He became pacemaker dependent as noted in outpatient pacemaker interrogations. A biventricular implantable cardioverter-defibrillator upgrade was performed for primary prevention of sudden cardiac death. He was started on prednisone taper over the course of 6 months. After 1-year, his LVEF improved to 55% and native atrioventricular (AV) conduction had recovered as noted in outpatient device interrogations.DiscussionThis case highlights the importance to include CS in the differential diagnosis of a young patient with conduction system disease and non-ischaemic cardiomyopathy for appropriate treatment. Patients with left ventricular systolic dysfunction and AV nodal disease could potentially benefit from a slow prednisone taper over the course of 6 months.
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Project description:Introduction and importanceEchinococcus granulosus causes hydatid disease. The most affected organ is the liver which is followed by the lungs. The pleural cavity being the primary location of hydatid cysts is rare and should be discussed further. This paper documents a rare case of primary pleural hydatidosis which can present with a merely isolated cough followed by dyspnea. The diagnosis and surgical treatment along with post-operative medications are vital in this case.Case presentationWe present a case of a 45-year-old who suffered from a cough for more than one week which did not subside after taking medications. This symptom was followed by dyspnoea for which an X-ray was done which showed left-sided pleural effusion, a complication of pleural hydatidosis. Computed tomography showed multiple cysts in the pleural cavity which confirmed the diagnosis of primary pleural hydatidosis as the cysts were not present in any other sites. Blood work revealed eosinophilia which is significant in parasitic diseases. A left posterolateral thoracotomy was performed, and the cysts were surgically removed. Additionally, empyemectomy and pleurectomy were done. The patient was then treated with anti-parasitic therapy and was advised to get X-rays during the follow-up visits. The X-rays were normal and indicated that there was no disease recurrence.Clinical discussionEchinococcus granulosus is a parasitic worm that causes hydatid disease. The primary location is the liver. A diagnosis of intrathoracic but extrapulmonary disease, which involves the presence of hydatid cysts in the pleura, heart, pericardium, mediastinum, chest wall, and diaphragm, is difficult in individuals lacking a primary cyst in a common location (Isitmangil et al., 2003; Saeedan et al., 2020).ConclusionThis case implies the significance of a cough of more than a week that is not relieved by medications. This should be carefully evaluated and followed in cases that have a rare diagnosis requiring surgery. A diagnosis of primary pleural hydatidosis with left-sided pleural effusion and atelectasis with mediastinal shift to the right side was made which was treated with a surgical procedure.
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Project description:Background and purposeInvasive pressure studies have suggested that CSF flow across the foramen magnum may transiently decrease after coughing in patients with symptomatic Chiari I malformation. The purpose of this exploratory study was to demonstrate this phenomenon noninvasively by assessing CSF flow response to coughing in symptomatic patients with Chiari I malformation by using MR pencil beam imaging and to compare the response with that in healthy participants.Materials and methodsEight symptomatic patients with Chiari I malformation and 6 healthy participants were studied by using MR pencil beam imaging with a temporal resolution of ∼50 ms. Patients and healthy participants were scanned for 90 seconds (without cardiac gating) to continuously record cardiac cycle-related CSF flow waveforms in real-time during resting, coughing, and postcoughing periods. CSF flow waveform amplitude, CSF stroke volume, and CSF flow rate (CSF Flow Rate = CSF Stroke Volume × Heart Rate) in the resting and immediate postcoughing periods were determined and compared between patients and healthy participants.ResultsThere was no significant difference in CSF flow waveform amplitude, CSF stroke volume, and the CSF flow rate between patients with Chiari I malformation and healthy participants during rest. However, immediately after coughing, a significant decrease in CSF flow waveform amplitude (P < .001), CSF stroke volume (P = .001), and CSF flow rate (P = .001) was observed in patients with Chiari I malformation but not in the healthy participants.ConclusionsReal-time MR imaging noninvasively showed a transient decrease in CSF flow across the foramen magnum after coughing in symptomatic patients with Chiari I malformation, a phenomenon not seen in healthy participants. Our results provide preliminary evidence that the physiology-based imaging method used here has the potential to be an objective clinical test to differentiate symptomatic from asymptomatic patients with Chiari I malformation.
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