Özlem Alkan

Factors Associated With the Thickness of the Ligamentum Flavum: Is Ligamentum Flavum Thickening Due to Hypertrophy or Buckling?

Study Design. Ligamentum flavum (LF) thickness was measured by using lumbar magnetic resonance imaging in patients with low back or leg pain. Objective. This study investigated whether LF thickening is due to hypertrophy or buckling related to disc degeneration and examined the correlations between the thickness of the LF and age, sex, body mass index (BMI), degree of pain, lumbar spinal stenosis (LSS), and disc herniation. Summary of Background Data. “LF thickness” and “LF hypertrophy” are used interchangeably in the literature, although they are not necessarily the same thing. Thickness may increase by buckling without a change in the mass of the LF, and whether LF thickening is due to tissue hypertrophy or buckling remains controversial. Methods. The thickness of 896 LFs at the L2–L3, L3–L4, L4–L5, and L5–S1 levels of 224 (mean age, 47.8 ± 16.7 yrs) patients was measured prospectively on axial T1-weighed magnetic resonance images, obtained at the facet joint level. The presence of disc degeneration, spinal stenosis, and disc herniation was evaluated. Results. At all of the levels investigated, LF thickness was significantly greater in patients with grades IV to V degeneration compared with the patients with grades I to III degeneration (P < 0.05). LF thickness at all levels increased significantly with age (P < 0.05). Sex and the degree of pain were not correlated with the thickness of the LF. Patients with a BMI of 25 kg/m2 or greater had the thickest LF at the L3–L4 level (P < 0.01). LF thickness was significantly greater at the L2–L3, L3–L4, and L4–L5 levels in subjects with LSS and significantly greater at all levels in subjects with disc herniation (P < 0.05). Conclusion. Thickening of the LF is correlated with disc degeneration, aging, BMI, LSS, spinal level, and disc herniation. The authors concluded that thickening of the LF is due to buckling of the LF into the spinal canal secondary to disc degeneration more than to LF hypertrophy. Sex and the degree of pain were not correlated with the thickness of the LF.

Malformations of the midbrain and hindbrain: a retrospective study and review of the literature.

We report the results of a retrospective analysis of radiological and clinical findings in 45 cases of midbrain–hindbrain anomalies and review recent advances in embryology and molecular neurogenetics. Among 45 patients with midbrain–hindbrain malformations, 16 cases of molar tooth malformation, 12 of cerebellar hypoplasia, ten of posterior fossa cyst and cerebellar vermian hypoplasia, three of rhombencephalosynapsis, two of Fukuyama congenital muscular dystrophy and two cases of isolated cerebellar dysplasia were identified. Twenty-six patients presented with motor-mental retardation, which was the most common clinical finding. Eleven patients were born to consanguineous parents. The correct diagnosis of cerebellar malformation is important for determining prognosis, the risk of recurrence and the need for genetic counselling. Integrated classification of malformations based on morphology, embryology and molecular neurogenetics may be useful.

Spinal MRI Findings of Guillain-Barré Syndrome

Guillain-Barré syndrome is a relatively common, acute, and rapidly progressive, inflammatory demyelinating polyneuropathy. The diagnosis is usually established on the basis of symptoms and signs, aided by cerebrospinal fluid findings and electrophysiologic criteria. Previously, radiologic examinations have been used only to rule out other spinal abnormalities. We report a case of systemic lupus erythematosus associated with Guillain-Barré syndrome with marked enhancement of nerve roots of the conus medullaris and cauda equina on MR imaging. These MR observations may help confirm the diagnosis of Guillain-Barré syndrome.

Metastatic Pulmonary Calcification in a Patient with Chronic Renal Failure

Metastatic pulmonary calcification characterized by diffuse calcium deposition in the lungs is known to occur in patients with chronic renal failure. We present a case of a 47-year-old man with chronic renal failure presented with dyspnea, high-resolution computed tomography of the chest revealed multiple, centrilobular, calcified nodules and patchy areas of ground-glass opacity throughout both lungs, consistent with metastatic pulmonary calcification. Calcification was also seen in the bronchi and trachea.

Intracranial cerebral artery stenosis with associated coronary artery and extracranial carotid artery stenosis in Turkish patients

PURPOSE Although it has been demonstrated that there is a high prevalence of extracranial carotid artery stenosis (ECAS) in patients with severe coronary artery disease, intracranial cerebral artery stenosis (ICAS) is rarely mentioned. We evaluated the prevalence of ICAS in patients with ECAS having elective coronary artery bypass grafting (CABG) surgery to determine the relations between ICAS, ECAS and atherosclerotic risk factors. METHODS We retrospectively reviewed the digital subtraction angiography findings of 183 patients with ECAS> or =50% preparing for CABG surgery. The analyses focused on the intracranial or extracranial location and degree of the stenosis. The degree of extracranial stenoses were categorized as normal, <50%, 50-69%, 70-89%, and 90-99% stenosis and occluded. The degree of intracranial stenosis was classified as normal or < or =25%, 25-49%, and > or =50% stenosis and occluded. Traditional atherosclerotic risk factors were recorded. RESULTS ECAS<70% in 42 patients and ECAS> or =70% in 141 patients. ICAS was found in 51 patients and ICAS> or =50% in 30 patients. Regarding risk factors, we found hypertension in 135 patients, diabetes mellitus in 91 patients, hyperlipidemia in 84 patients, and smoking in 81 patients. No risk factor was significant predictors of intracranial atherosclerosis. The severity of ICAS was not significantly associated with that of the ECAS. CONCLUSIONS We found ICAS in 27.8% of the patients with ECAS>50% on digital subtraction angiography preparing for CABG. Therefore a complete evaluation of the neck vessels with magnetic resonance or catheter angiography seems to be indicated as well as intracranial circulation for the risk assessment of CABG.

Cranial involvement in sickle cell disease

PURPOSE To evaluate cranial findings in patients with neurologically symptomatic sickle cell disease (SCD). MATERIALS AND METHODS We studied 50 consecutive patients with SCD and neurologic symptoms. All patients underwent brain MR examinations: all 50 underwent classic MR imaging; 42, diffusion-weighted MR imaging; 10, MR angiography; four, MR venography; and three patients, digital subtraction angiography. RESULTS Of the 50 SCD patients, 19 (38%) had normal MR findings, and 31 (62%) showed abnormalities on brain MR images. Of the 50 patients, 16 (32%) had ischemic lesions; two (4%), subarachnoid hemorrhage; one (2%), moya-moya pattern; one (2%), posterior reversible encephalopathy; one (2%), dural venous sinus thrombosis; 12 (24%), low marrow signal intensity and thickness of the diploic space; 12 (24%), cerebral atrophy; and two (4%), osteomyelitis. Twenty-seven patients (54%) presented with headache, which was the most common clinical finding. CONCLUSIONS The cranial involvement is one of the most devastating complications of SCD. Early and accurate diagnosis is important in the management of cranial complications of SCD.

Aortic dissection accompanied by preeclampsia and preterm labor

Aortic dissection is a potentially fatal disease rarely encountered in obstetric clinics. A multiparous woman with a prior cesarean delivery was admitted with the complaint of epigastric pain at 33 weeks of gestation. The patient was diagnosed with preeclampsia and preterm labor. An emergent cesarean delivery was performed. Hypertension and epigastric pain could not be controlled after the operation. Computed tomography scan 2 days after the operation revealed aortic dissection, multiple infarct areas in the spleen and liver, and dilations of the intestine and the colon. Ascending aorta replacement followed by massive intestinal resection starting from the ligament of Trietz to the sigmoid colon was performed. Nine hours after the operation the patient had cardiopulmonary arrest. Aortic dissection should be suspected in cases of atypical epigastric pain even if the patient shows signs of preeclampsia and preterm labor.

Ventral Thoracic Spinal Cord Herniation: A Commonly Misdiagnosed and Treatable Cause of Myelopathy

Idiopathic ventral spinal cord herniation is a rare cause of progressive myelopathy that demonstrates unique radiological features. We describe a case of thoracic spinal cord herniation through an anterior dural defect and discuss the characteristic findings on magnetic resonance imaging and computed tomographic myelography. A 36-year-old man presented to our clinic with progressive leg weakness and spasticity in both legs. Magnetic resonance imaging of the thoracic spinal canal demonstrated C-shaped anterior kinking of an atrophied spinal cord and enlarged dorsal subarachnoid space at the T5-T6 level. Computed tomographic myelography showed ventral herniation of the spinal cord and no evidence of an intradural spinal arachnoid cyst. Ventral spinal cord herniation is a commonly misdiagnosed entity. Knowledge of the characteristic imaging appearance of this treatable condition is important for proper diagnosis and treatment.

A Rare but Serious Complication of Ladd’s Procedure: Recurrent Midgut Volvulus

An eighteen-month-old boy who had undergone a Ladd’s procedure for malrotation in the newborn period presented with acute onset of nausea, vomiting, rectal bleeding, and confusion. Laparotomy revealed midgut volvulus, mesenteric lymphadenopathy and massive chylous ascites. Recurrent midgut volvulus following Ladd’s procedure is extremely rare but should be borne in mind in cases of persistent or recurrent gastrointestinal symptoms. Timely surgery is necessary to avoid intestinal gangrene and decrease morbidity and mortality related to consequences of midgut volvulus.

P78 – 2554: Farber disease in a child with a novel homozygous c.92G>T mutation

Objective Farber disease is an extremely rare autosomal recessive lysosomal storage disease marked by a deficiency in enzyme acid ceramidase that causes an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system. To date, less than 25 distinct mutations have been identified in farber patients, but no homozygous c.92G>T mutation have yet been reported. Methods A five-month-old male presented at our institution with a hoarse cry, irritability and weak head control. His physical examination revealed coarse facial appearance, joint stiffness, axial hypotonia and hepatomegaly. Ophtalmoscopic examination revealed macular cherry-red spots. Serebral magnetic resonance imaging (MRI) was consistent with communicating hydrocephalus at six months of age. Serebral and servical spinal MRI revealed noduler soft tissue extension that involved cervicomeduller junction at the atlantoaxial level at eight months of age. There were multiple subcutaneous nodules measuring 0.5 to 1 cm in diameter over the interphalangeal joints of the hand appeared at the age of 16 months. There were no evidence of urine mucopolysaccharide or oligosaccharide screen. Urinary sialic acid were normal. Through the analysis of lysosomal enzymes activities revealed normal. The plasma chitotriosidase was raised 3654umol/lhr, (normal of 4–120). The diagnosis of Farber lipogranulomatosis was suggested and gene sequencing of the ASAH1 gene confirmed the diagnosis of Farber disease Results A homozygous c.92G> T mutation was found in our patient. Conclusion Farber lipogranulomatosis is a rare autosomal recessive lysosomal storage disorder caused by mutations in the ASAH1 gene. To the best of our knowledge, this is the first report of a novel homozygous c.92G> T mutation in ASAH1 gene which is associated with Farber disease