A neonatal case of anterior spinal artery syndrome presenting with bilateral arm paresis

Anterior spinal artery syndrome is rare in children, especially in neonates. We present a girl with hydrops fetalis and hypothyroidism who developed flaccid paresis of both arms in the neonatal period (around day 25). MRI of the spine performed on day 52 revealed atrophic changes at C5-Th1 without Gd-DTPA-induced enhancement. Nerve conduction studies were also helpful in the diagnosis;in the upper limbs, motor potential was not elicited, while sensory nerve conduction velocity was normal. These clinical and laboratory findings suggested an atypical case of anterior spinal artery syndrome.     

Three patients with middle-age-onset hemochromatosis caused by novel mutations in the hemojuvelin gene

Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.     

Adrenocorticotropic hormone is produced in the ventricle of patients with essential hypertension

OBJECTIVE: Aldosterone is produced in the ventricle of patients with hypertension. The present study was designed to examine whether adrenocorticotropic hormone (ACTH) and cortisol are also produced from the heart in patients with essential hypertension. METHODS: The study population consisted of 57 patients with essential hypertension and 28 control subjects. Plasma levels of ACTH, aldosterone, and cortisol were measured in the aortic root, the anterior interventricular vein and the coronary sinus during cardiac catheterization. RESULTS: The plasma levels of ACTH were significantly higher at the anterior interventricular vein and coronary sinus than at the aortic root (12.7 +/- 1.0 versus 10.7 +/- 0.9 pmol/l, P < 0.001; and 12.3 +/- 1.0 versus 10.7 +/- 0.9 pmol/l, P < 0.001, respectively) in the hypertension group, whereas there were no significant differences in the levels among these sites in the control group. The plasma levels of aldosterone were significantly higher at the anterior interventricular vein and the coronary sinus than at the aortic root (261.7 +/- 16.4 versus 239.1 +/- 15.1 pmol/l, P < 0.001; and 258.8 +/- 17.0 versus 239.1 +/- 15.1 pmol/l, P < 0.01, respectively) in the hypertension group, whereas there were no significant differences in the levels among these sites in the control group. CONCLUSIONS: ACTH as well as aldosterone is produced, but cortisol is not produced, from the ventricle of patients with essential hypertension.     

A case of synovial sarcoma in the submandibular region

Synovial sarcomas are a less common cervical tumor in young patients. We report a 23-year-old man with synovial sarcoma in the submandibular region. T2-weighted MR images demonstrated a mixed-intensity tumor attached to the submandibular gland. T1-weighted MR images revealed a focal area with mildly increased signal intensity, indicating intratumoral hemorrhage. MR images were also useful for visualization of tumor extension. Synovial sarcoma should be considered in the differential diagnosis of well-defined inhomogeneous tumors adjacent to the submandibular gland in young adults.     

MR imaging for evaluation of severe facial nerve damage in patients with facial nerve palsy

PURPOSE: To evaluate the usefulness of MR imaging for the detection of severe facial nerve damage in patients with facial nerve palsy. MATERIALS AND METHODS: We retrospectively reviewed 26 consecutive patients with facial nerve palsy (13 non-responders and 13 responders). T1-weighted, T2-weighted, and postcontrast T1-weighted images were obtained in all patients. FLAIR images were also obtained in 3 non-responders. RESULTS: The geniculate ganglion, labyrinthine segment, and tympanic segment or mastoid segment showed high signal intensity on T2-weighted images in 9 of 13 non-responders, whereas high signal intensity of the nerve was only seen in 1 of 13 responders. FLAIR imaging revealed high signal intensity lesions of the distal intrameatal segment in 2 non-responders. Contrast enhancement of the facial nerve showed a similar pattern in non-responders and responders. High signal intensity lesions on T2-weighted or FLAIR images showed enhancement on postcontrast T1-weighted images. CONCLUSION: These results suggest that a high signal intensity area on T2-weighted images is a marker of severe facial nerve damage. FLAIR imaging is useful for identification of T2-prolongation in the distal intrameatal segment.     

Cerebral hyperperfusion following carotid endarterectomy: diagnostic utility of intraoperative transcranial Doppler ultrasonography compared with single-photon emission computed tomography study

BACKGROUND AND PURPOSE: Cerebral hyperperfusion syndrome is a rare but serious complication of carotid endarterectomy (CEA). The aim of the present study was to determine whether intraoperative blood flow velocity (BFV) monitoring in the middle cerebral artery (MCA) by using transcranial Doppler ultrasonography (TCD) could be used as a reliable technique to detect cerebral hyperperfusion following CEA by comparing findings with those of brain single photon emission CT (SPECT). METHODS: Intraoperative BFV monitoring was attempted in 67 patients undergoing CEA for treatment of ipsilateral internal carotid artery (ICA) stenosis (> or =70%). Cerebral blood flow (CBF) was also assessed using SPECT, which was performed before and immediately after CEA. RESULTS: Intraoperative BFV monitoring was achieved in 60 patients. Of the 60 patients, post-CEA hyperperfusion (CBF increase > or =100%, compared with preoperative values) was observed in six patients. The sensitivity, specificity, and positive predictive value of the BFV increases immediately after declamping of the ICA for detecting post-CEA hyperperfusion was 100%, 94% and 67%, respectively, with a cut-off point 2.0-fold that of preclamping BFV. The sensitivity and specificity of the BFV increases at the end of the procedure for detecting post-CEA hyperperfusion were 100% for both parameters, with cut-off points of 2.0- to 2.2-fold BFV of preclamping value. Hyperperfusion syndrome developed in two patients with post-CEA hyperperfusion, but intracerebral hemorrhage did not occur. In one of these two patients, BFV monitoring was not possible because of failure to obtain an adequate bone window. CONCLUSION: Intraoperative MCA BFV monitoring by using TCD is a less reliable method to detect cerebral hyperperfusion following CEA than postoperative MCA BFV monitoring, provided adequate monitoring can be achieved.     

Pallidoreticular damage in acute carbon monoxide poisoning: diffusion-weighted MR imaging findings

We describe a case of carbon monoxide poisoning that led to pallidoreticular damage and delayed leukoencephalopathy. Serial diffusion-weighted MR imaging was performed. A restricted water diffusion pattern was demonstrated in the globus pallidus and substantia nigra in the early stage. Diffusion-weighted imaging is useful for early identification of the effects of acute carbon monoxide poisoning.