Multiple Cerebral Hemorrhages during the Course of Guillain-Barre Syndrome: A Case Report.

Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy. In this report, we present a 3-year-old girl diagnosed with cortical and subcortical hemorrhage during the course of GBS who was treated with intravenous immunoglobulin. To the best of our knowledge, central nervous system hemorrhage during the course of GBS is an extremely rare condition. We believe that all clinicians following patients with GBS or using intravenous immunoglobulin for any indications should be aware of this rare but potentially life-threatening condition.

Congenital Muscular Dystrophy due to Novel Compound Heterozygote Mutations in POMGNT1 Gene.

Muscular dystrophy-dystroglycanopathy is a heterogeneous group of inherited muscular dystrophies caused by glycosylation defects associated with different mutations. The main finding of the disease is disruption of the binding of cellular α-dystroglycan to its extracellular matrix ligands. O-mannose ß-1,2-N-acetylglucosaminyltransferase 1 is one of the pathogenic genes involved in glycosylation defects of α-dystroglycan. Herein, we report a patient diagnosed with muscular dystrophy-dystroglycanopathy 3 with the determination of a compound heterozygote novel mutation on O-mannose ß-1,2-N-acetylglucosaminyltransferase 1 gene, which was not reported before in literature.

Radiological findings and outcomes of bronchial artery embolization in cryptogenic hemoptysis.

Management of cryptogenic massive hemoptysis is difficult, and conservative treatment may be inadequate to stop the hemorrhage. Surgery is not a reasonable option because there is no underlying identifiable pathology. This study aimed to investigate the radiologic findings and bronchial artery embolization outcomes in cryptogenic hemoptysis, and to compare the results with non-cryptogenic hemoptysis. We evaluated 26 patients with cryptogenic hemoptysis and 152 patients with non-cryptogenic hemoptysis. A comparison of the bronchial artery abnormalities between the cryptogenic and non-cryptogenic hemoptysis groups showed that only extravasation was more statistically significant in the cryptogenic hemoptysis group than in the non-cryptogenic hemoptysis group, while the other bronchial artery abnormalities, such as bronchial artery dilatation, hypervascularity, and bronchial-to-pulmonary shunting, showed no significant difference between groups. Involvement of the non-bronchial systemic artery was significantly greater in the non-cryptogenic hemoptysis group than in the cryptogenic hemoptysis group. While 69.2% of patients with cryptogenic hemoptysis also had hypervascularity in the contralateral bronchial arteries and/or ipsilateral bronchial artery branches other than the bleeding lobar branches, this finding was not detected in non-cryptogenic hemoptysis. Embolization was performed on all patients using polyvinyl alcohol particles of 355-500 µm. Hemoptysis ceased in all patients immediately after embolization. While recurrence of hemoptysis showed no statistically significant difference between the cryptogenic and non-cryptogenic hemoptysis groups, it was mild in cryptogenic hemoptysis in contrast to mostly severe in non-cryptogenic hemoptysis. Transarterial embolization is a safe and effective technique to manage cryptogenic hemoptysis.

Spontaneous acute cerebral hematoma in a child with factor XIII deficiency.

Factor XIII deficiency is a very rare bleeding disorder. We report here on the clinical outcome of a young child with intracranial bleeding due to factor XIII deficiency. Clinicians should bear in mind that severe factor XIII deficiency is associated with a significant risk of unexpected intracranial hemorrhage (ICH).

Long-term survival in metastatic malignant melanoma: ipilimumab followed by vemurafenib in a patient with brain metastasis.

A 46-year-old man was diagnosed with brain metastasis after a two-year history of melanoma. Paliative radiotherapy was administered followed by dacarbazine, temozolamide, ipilimumab, stereotactic radiosurgery, ipilimumab reinduction and finally vemurafenib, to which the patient showed objective responses. The patient received vemurafenib for four months and died after progresive disease. Long-term follow-ups after surgery have been reported in the literature. However, in patients with unresectable metastases, outcomes are mostly detrimental. The present patient survived for 40 months after brain metastasis. The unusually long survival observed in the present case indicates the sequential effectiveness of radiotherapy, chemotherapy, ipilimumab, stereotactic radiosurgery and vemurafenib.

Silent cerebral infarct in child patients with beta thalassaemia intermedia.

There are numerous reports that patients with thalassemia are faced with hypercoagulability leading to vascular disorders. One of these complications is known as a silent infarct, defined as a small infarct detected by cerebral imaging but without any neurological symptoms. Since it has a progressive nature, it is of vital importance because it may lead to symptomatic cerebrovascular accidents in the future. Twenty-two children with thalassemia intermedia were enrolled into the study and MRI scans were performed. All demographic data and clinical features of the patients were obtained during the follow-up period. In addition to the patients, 13 healthy controls were included to compare serum anticoagulant levels with those of the thalassemia intermedia patients. Four of the patients were found to have silent cerebral infarcts (SCIs). The lesions involved varying amounts of the deep cerebral white matter and sub-cortical areas. One patient showed 'net line' filling defects within the ambient cistern on MRI images corresponding to moyamoya vessels. Three patients had undergone splenectomy, and three were transfused irregularly and had less than six transfusions per year. More importantly, protein C levels were lower and platelet levels were significantly higher in the patient group compared with controls. We were not able to find any association between SCI and transfusion number or splenectomy. However, of the total patients four thalassemia intermedia patients had SCI in early childhood and this is an unusual finding. In order to verify the findings, further studies must be conducted involving larger numbers of patients.

Eyelid myoclonia with absence seizures in a child with l-2 hydroxyglutaric aciduria: findings of magnetic resonance imaging.

l-2 hydroxyglutaric aciduria is a rare, autosomal recessively inherited metabolic disorder of organic acid metabolism. A 5-year-old boy presented with eyelid myoclonia with absences that proved difficult to control with first-line anticonvulsants. An electroencephalogram produced profoundly abnormal results, with generalized spike-and-wave discharges. The patient became seizure-free with a combination therapy of clonazepam, levetiracetam, and lamotrigine. Magnetic resonance imaging demonstrated subcortical white matter and basal ganglia alterations. Urinary organic acid analysis demonstrated increased excretion of l-2 hydroxyglutaric acid. Although rare, seizures can occur as a presenting sign of slowly progressing organic acidurias, e.g., l-2 hydroxyglutaric aciduria. Both eyelid myoclonia with absences and l-2 hydroxyglutaric aciduria comprise rare disorders. To our knowledge, this case report is the first of l-2 hydroxyglutaric aciduria presenting with symptomatic eyelid myoclonia with absences.

Computed tomography based measurement of the dimensions of foramen ovale and rotundum in trigeminal neuralgia.

OBJECTIVES: To compare sizes of the foramen ovale and rotundum in trigeminal neuralgia (TN) patients and healthy individuals on CT images. METHODS: Twenty-one TN patients and 24 healthy volunteers were included in this retrospectively designed study, carried out at the Department of Anatomy, Medical School, Gaziantep University, Gaziantep, Turkey, between May 2004 and August 2009. The dimension of the foramen ovale on the cross-sectional images, and the foramen rotundum on coronal sections on CT images were examined. RESULTS: The mean sizes of the foramen rotundum on the right and left sides were 3.04 x 3.2 mm and 2.8 x 2.9 mm in TN patients, and 2.4 x 3.2 mm and 2.5 x 3.1 mm in controls. The mean sizes of the foramen ovale on the right and left sides were 4.8 x 6.04 mm and 4.9 x 5.5 mm in TN patients, and 3.7 x 8.2 mm and 4.1 x 7.6 mm in controls. The dimensions of left and right foramens were not significantly different in both TN patients and controls (p > 0.05). Furthermore, a statistically significant difference was not found between the foraminal dimensions of the TN patients and controls (p > 0.05). CONCLUSION: This study revealed that the sizes of foramen ovale and rotundum are highly symmetrical in both groups, suggesting that sizes of the foramina are not associated with the occurrence of TN.

Primary hydatid cyst of the infratemporal fossa.

Hydatid cyst disease is a rare parasitic disease caused by the larval stage of Echinococcus. This parasite in the larval stage can thrive in many parts of the body, most frequently in the liver. Head and neck involvement of the disease is rare. Herein, we present a case of primary hydatid cyst occurring in the infratemporal fossa, which is an extremely rare localization.

Developmental venous anomaly (DVA) with arterial component: a rare cause of intracranial haemorrhage.

INTRODUCTION: To examine the clinical and radiologic findings of patients with developmental venous anomaly (DVA) associated with intracranial haemorrhage but unrelated to cavernoma. METHODS: Computed tomography (CT) was used to obtain intracranial images from seven patients ranging in age from 6 to 51 years. Magnetic resonance imaging (MRI) was then performed on six patients, and two patients were further examined via CT angiography. Finally, digital subtraction angiography (DSA) was performed to confirm the initial diagnosis. RESULTS: CT showed intraparenchymal supratentorial haemorrhage in all patients. The combined imaging modalities eventually confirmed a diagnosis of arterialized DVA in four patients and arterialized DVA associated with arteriovenus malformation (AVM) in three. Two patients were managed symptomatically, two underwent radiosurgery, one underwent surgery, one underwent combined embolisation plus radiosurgery and the remaining patient underwent combined embolisation plus surgery. Two patients died, one as a result of re-bleeding, and the other due to radiation necrosis. The mean follow-up period was 33 months (6 months to 6 years) for the remaining five patients with favourable outcome. CONCLUSION: DVA associated with intraparenchymal haemorrhage, but not related to cavernoma, was confirmed. Though very rare, DVA may present with non-cavernoma-related haemorrhage in the form of arterialized DVA or DVA with AVM.

Bronchial artery embolization in the management of pulmonary parenchymal endometriosis with hemoptysis.

Pulmonary parenchymal endometriosis is extremely rare and usually manifests itself with a recurrent hemoptysis associated with the menstrual cycle. The therapies proposed for women with endometriosis consist of medical treatments and surgery. Bronchial artery embolization has become a well-established and minimally invasive treatment modality for hemoptysis, and to the best of our knowledge, it has not been reported in pulmonary endometriosis. We report a case of pulmonary parenchymal endometriosis treated with embolotheraphy for hemoptysis.

Synchronous bilateral carotid body tumor and vagal paraganglioma: a case report and review of literature.

We present a case of synchronous bilateral carotid body tumor and vagal paraganglioma in a 49-year-old man who presented with 3 months history of tenderness and palpable neck masses bilaterally. An encapsulated mass which was thought to be a carotid body tumor and an incidental 3 cm x 2 cm, 5 cm x 1 cm, 5 cm mass which seemed to be originated from vagus nerve were dissected from the left side. Pathology revealed carotid body tumor and vagal paraganglioma. Six months after the first operation, the carotid body tumor on the right side was totally excised. A discussion of this case is followed by a review of the literature surrounding this rare clinic and pathological entity.

Noninvasive assessment of benign lesions of vocal folds by means of ultrasonography.

OBJECTIVES: Although ultrasonography (US) has been widely used in various parts of the body, its application in laryngeal examination has been limited. Our objective was to evaluate the significance of US examination in benign lesions of the vocal folds. METHODS: Ultrasonographic examination of the vocal folds was performed in 14 patients in whom benign lesions of the vocal folds had been diagnosed by videolaryngoscopy and microlaryngoscopy. Microlaryngoscopic surgery was performed after US examination. Each lesion was analyzed for the following US features: shape, size, and echotexture (echogenicity and homogeneity). RESULTS: In total, 16 lesions were diagnosed in 14 patients by means of videolaryngoscopy and microlaryngoscopy. Ultrasonographic examination was capable of diagnosing 14 of the 16 lesions (87.25%). Ultrasonography mainly helped in the diagnosis of sessile polyps, nodules, and leukoplakia that were larger than 2 mm. The lesions were linear hyperechoic, heterogeneous hyperechoic, hypoechoic, and isoechoic if they were leukoplakia, nodules, hemorrhagic polyps, and other polypoid lesions, respectively. The results are better if the diagnosis follows the corresponding US echotexture pattern rather than videolaryngoscopy and microlaryngoscopy. CONCLUSIONS: Laryngeal US examination appears to be a useful diagnostic tool for supplementing microlaryngoscopy in the assessment of benign lesions of vocal folds. In contrast to these currently used imaging techniques, anesthesia is not necessary in laryngeal US examination. In addition, US is noninvasive, painless, and much less expensive than the other techniques.

Effect of sunitinib on metastatic gastrointestinal stromal tumor in patients with neurofibromatosis type 1: a case report.

Gastrointestinal stromal tumor (GIST) represents the most common mesenchymal malignancy of the gastrointestinal (GI) tract. In neurofibromatosis (NF), the increased incidence of tumor needs to be considered even in non-symptomatic individuals. Patients with neurofibromatosis NF type 1 have an increased risk of developing GI tumors including rare types such as GIST. We report a case of GIST in a 53-year-old male patient with neurofibromatosis. The patient was diagnosed with NF four years ago and his medical history revealed that he was hospitalized 5 times with a provisional diagnosis of massive lower gastrointestinal bleeding. GIST was diagnosed at explorative laparotomy and the tumor was 21 cm multiply 13 cm multiply 7 cm in size. Immunohistochemical examination showed that vimentin, actin and CD117 were positive. Computerized tomography showed peritoneal implants three months later. Imatinib mesylate (600 mg/d) was initiated. However, control computerized tomography revealed liver and omental metastasis. The dosage was elevated to 800 mg/d. Despite high dosage, the progression of the metastatic lesions continued in the liver and omentum. The patient started oral sunitinib malate (Sutent) Pfizer Inc, New York, NY, USA) 50 mg per day for 4 consecutive weeks, followed by 2 wk off per treatment cycle. The metastatic lesions in the liver and omentum were decreased in size after four courses, suggesting that sunitinib is also an effective treatment modality for metastatic GIST in NF patients.

Prenatal sonographic diagnosis of an extensive fetal axillary hemangiolymphangioma.

Hemangiolymphangioma (HL) is an extremely rare malformation of both the lymphatic and blood vessels. We present a case of fetal axillary HL that was diagnosed sonographically at 36 weeks' gestation. Sonographic examination revealed a large, multilocular, cystic mass consistent with lymphangioma. At birth, a giant hemangioma was noticed involving the right hemitruncus. Based on clinical and sonographic findings, a diagnosis of HL was made. Surgical treatment was considered but was refused by the parents. The neonate died at 14 days of age, possibly due to an intralesional hemorrhage.

Reflex anuria after renal tumor embolization.

We report a case of reflex anuria after transarterial embolization of a renal tumor. Anuria developed immediately after embolization and resolved 74 hr following the procedure. We postulate that reflux anuria in our case was related to mechanoreceptors, chemoreceptors, or both, as these are stimulated by the occluded blood vessels, ischemia, and edema of the normal renal tissue of an embolized kidney.

Cephalopagus conjoined twins presented with encephalocele: diagnostic role of ultrafast MR imaging.

Conjoined twinning is a rare abnormality and cephalopagus is a very rare form of conjoined twins. We report a case of cephalopagus conjoined twins with encephalocele and omphalocele which diagnosed by ultrasonography and ultrafast magnetic resonance (MR) imaging at 24 weeks of the gestation. Ultrafast MR imaging can provide image quality superior to two dimensional ultrasonography and should be considered an adjunct to ultrasound for antenatal characterization of some anomalies. To the best of our knowledge, this is the first case of cephalopagus conjoined twins with encephalocele and omphalocele which diagnosed by ultrasound and ultrafast MR imaging.

Traumatic bilateral vertebral artery dissection at the dural entry point site in a 10-year-old boy.

We present a 10-year-old boy who was admitted with headache and neurological symptoms after a trauma in the school yard. Cerebral MRI revealed an extensive ischaemia in the bilateral cerebellar hemispheres, left middle cerebellar peduncle, and right vermis. Digital subtraction angiography demonstrated bilateral vertebral artery dissections at the dural entry point site. This case emphasises the management of patients with traumatic vertebral artery dissection.

Magnetic resonance imaging based classification of anatomic relationship between the cochleovestibular nerve and anterior inferior cerebellar artery in patients with non-specific neuro-otologic symptoms.

In this study, we aimed to assess anatomical relationship between the anterior inferior cerebellar artery (AICA) and cochleovestibular nerve (CNV) in patients with non-specific cochleovestibular symptoms using magnetic resonance imaging (MRI). One-hundred and forty patients with non-specific neuro-otologic symptoms were assessed using cranial and temporal MRI. Classification was performed according to four different types of anatomical relationship observed between the AICA and CVN. In type 1 (point compression), the AICA compresses only a limited portion of the CVN. In type 2 (longitudinal compression), the AICA approaches the CVN as both traverse parallel to each other. In type 3 (loop compression), the vascular loop of the AICA encircles the CVN. In type 4 (indentation), the AICA compresses the CVN so as to make an indentation in the nerve. The anatomical relationship between the CVN and AICA was encountered in 19 out of 140 (13.6%) patients (20 ears). The VCC was unilateral in 18 patients (94.7%) and bilateral in one patient (5.3%). There was no other vascular structure causing VCC to the CVN except for vertebral artery that was seen in 2 out of 140 patients (1.4%). These were unilateral cases. There were tinnitus, vertigo or dizziness, hearing loss, and both hearing loss and vertigo in 5 (25%), 13 (65%), 1 (5%) and 1 (5%) ears of 20 patients, respectively. There was no relationship between the cochleovestibular symptoms and type of compression (p>0.05). Neurovascular relationship between the CVN and AICA can be imaged properly using MR and MR based classification may help reporting this relationship in a standard way. Although, MR images can show the anatomical relationship accurately, diagnosis of vascular conflict should not be based on imaging findings alone.