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Microcephalic osteodysplastic primordial dwarfism (MOPD) syndrome type 2, caused by a mutation in the PCNT gene (21q22.3), is a rare autosomal recessive disorder. Patients present with bone dysplasia, insulin resistance, kidney diseases, and cardiac malformations, making them prone to vascular diseases. Cardiomyopathy, hypertension, and coronary diseases are documented. The prognosis is associated with cerebrovascular complications.
Method:
We report a case of a patient with MOPD type II who suffered a myocardial infarction in our institution. Informed consent for publishing was obtained.
Result:
A 17-year-old female with MPOD II syndrome (20 kg and 86 cm) was referred for chest pain. Thoracic pains had been occurring for over a month, increasing in intensity, with an episode prompting emergency consultation. Initial tests revealed elevated troponin and an inflammatory response. Electrocardiogram (ECG) showed ST-segment depression and elevation. Echocardiography revealed hypokinetic inferior walls with moderate concentric hypertrophy. A coronary CT scan showed subendocardial hypodensity. Diagnostic coronary angiography revealed tri-branch lesions and almost complete stenoses or occlusions on the circumflex artery (Image). No indication for interventional treatment due to diffuse atheromatous lesions. Exclusive medical treatment was initiated.
Conclusion:
MPOD II syndrome is associated with cardiac malformations and neurovascular complications, including myocardial infarction. Regular ECG monitoring is advisable. Active surveillance for coronary diseases is necessary from adolescence. Recognising this complication allows for prompt intervention. This case highlights the need for specific monitoring and prompt management of chest pain in patients with MPOD II syndrome. Primary prevention could mitigate the occurrence of coronary events in this high-risk population.
Increasing research evidence suggests that basal ganglia are an important part of frontal-subcortical circuit which is involved not only in motor control but also in affective, cognitive and executive functions. In this article, we describe the ability of facial emotion recognition and cognitive functioning in a patient with left basal ganglia and insula damage. The patient's ability to recognise facial emotional expressions was intact in spite of unilateral injury of the left insula and basal ganglia. He showed preserved intellectual function in general, but experienced difficulties on subsets of the executive functions: set-shifting and ability to activate or generate cognitive strategies, commonly found in patients with caudate lesions. This case contributes to evidence that striatal structures are important for executive functions.
Pulmonary embolism (PE) is an uncommon and often overlooked cause of ST-segment elevation on the electrocardiogram (ECG). Emergent echocardiography has been cited as a means to rapidly distinguish acute myocardial infarction from PE. However, both of these conditions can present with focal wall motion abnormalities. We report a case of a 51-year-old asymptomatic male who presented to our emergency department with anterior ST-segment elevation and right-heart strain on an ECG. The clinical diagnosis of ST elevation myocardial infarction was in doubt, and an echocardiogram was obtained while the patient was in the emergency department. Although a focal area of hypokinesia was observed on echocardiography, cardiac catherization did not demonstrate any evidence of acute coronary occlusion. A computed tomographic angiogram of the chest was subsequently obtained, which demonstrated evidence of submassive pulmonary emboli. Our case highlights the limited utility of emergent echocardiography in cases of ST-segment elevation.
Thrombotic coronary arterial occlusion, and myocardial infarction, are rare in the newborn. We report such a happening presenting shortly after birth with cardiogenic shock, no left ventricular output and a systemic circulation dependent on flow from a patent arterial duct.
Following surgery in the USA in 1992 to remove a large right cerebello-pontine angle tumour, a 39-year-old woman developed severe brainstem and cerebellar infarction. This left her with severe visual impairment and ataxia. She became able to communicate by means of an adapted finger-spelling alphabet. She had total hearing loss in the right ear and a mild to moderately severe sensorineural hearing loss in the left ear, and severe tinnitus heard throughout the head. Additionally, she experienced hypersensitivity to sound above normal conversational levels, which evoked a synaesthetic feeling of coldness across her upper torso. Previous linear analogue hearing aid fitting had not been beneficial for either hearing or tinnitus. Careful fitting of a digital hearing aid, together with tinnitus counselling, inhibited the patient's tinnitus to 25 per cent of its former intensity after a six month acclimatisation period, and improved communication.
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