A case of L-2 hydroxyglutaric aciduria presenting as febrile seizure.

L-2 hydroxyglutaric aciduria (L2HGA) is a rare, infantile-onset, autosomal recessive organic aciduria affecting exclusively the central nervous system. A case is reported here of L2HGA presenting with macrocephaly and febrile seizure. Although there have been reports of epilepsy associated with L2HGA, to the best of our knowledge this is the second case in literature of febrile seizure in a patient with L2HGA. This report suggests that detailed neurological evaluation of macrocephalic children with febrile convulsion is important. Moreover, metabolic and genetic investigations may be necessary for these kinds of patients.

Evaluation of left renal vein and inferior vena cava variations through routine abdominal multi-slice computed tomography.

BACKGROUND: The aim of this study was to evaluate the frequency of left renal vein (LRV) and inferior vena cava (IVC) variations and the effect of gender on this frequency, as well as the presence of associated abdominal pathologies. MATERIALS AND METHODS: Multi-slice computed tomography (MSCT) images from 746 patients were evaluated retrospectively. RESULTS: Left renal vein variations were identified in 9.8% of cases, while retroaortic LRV (RLRV) and circumaortic LRV (CLRV) were found in 7.4% and 2.4% of cases, respectively. No significant correlation was found between gender and LRV variations (p = 0.797). Of the cases with LRV and IVC variations, 73% had abdominal pathologies, the most common of which were nephrolithiasis, which appeared in 18 (32%) cases, and renal cysts, which appeared in 14 (25.4%) cases. CONCLUSIONS: MSCT is a rapid and reliable method of identifying LRV and IVC variations and associated abdominal pathologies.

A mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

Canavan disease (CD) is an autosomal recessive inherited disorder characterized by spongy degeneration of the brain. The deficiency of aspartoacylase (ASPA), resulting in the accumulation of N-acetyl aspartic acid (NAA) in the brain, plays an important role in the pathogenesis of the disease. The cardinal features of this neurodegenerative disease are macrocephaly, mental retardation, and hypotonia. Magnetic resonance imaging (MRI) of the brain generally shows diffuse white matter degeneration and also elevated excretion of urinary NAA is usually seen. A large number of mutations were identified to date. We report here a 9 months old girl with Canavan Disease and a homozygous c.79G>A mutation in the ASPA gene, detected for the first time in Turkish population.

Polyorchidism: a three-case report and review of the literature.

The presence of more than two testes confirmed by histology is called polyorchidism. Polyorchidism is an extremely rare congenital anomaly with a few more than 100 cases reported in the literature. The majority of reported cases are asymptomatic patients, others present with cryptorchidism, hydrocele, varicocele, epididymitis, infertility, testicular malignancy and testicular torsion. Over a 2-year period, we encountered three patients who were found to have polyorchidism; two men presented with cryptorchidism and one with chronic scrotal pain. Physical examination of the first and the third patient revealed normal testes in the scrotal sac, the other scrotal sac was empty and small solid mass (atrophic left testes) was palpated in the inguinal canal. Ultrasonographic examination of the scrotum and inguinal region confirmed the findings of the physical examination. Ultrasonographic examination of the second patient revealed supernumerary testes within the scrotum. Orchiectomy was made on the first and third patients' supernumerary testes and ipsilateral inguinal high ligation was applied for herniorrhaphy. A conservative approach was preferred for the second patient, maybe preserving a potentially functional supernumerary testis to improve the capacity for spermatogenesis. The risk of malignancy justifies the removal of an atrophic and ectopic testis in polyorchidism. However, it would appear safe to preserve a viable intrascrotal supernumerary testis found incidentally at surgery, provided that the patient is followed-up in the long term.

Seeing the invisible: painless aortic dissection in the emergency setting.

Acute dissection of the aorta can be one of the most dramatic cardiovascular emergencies. Classically, aortic dissection presents as sudden, severe chest, back, or abdominal pain that is characterised as ripping or tearing in nature. However, a timely diagnosis can be elusive in the event of an atypical presentation. In this report, the authors present two patients with painless aortic dissection who were misdiagnosed during their initial evaluation in the emergency department.

An evaluation of subacute sclerosing panencephalitis patients with diffusion-weighted magnetic resonance imaging.

PURPOSE: This study aimed to evaluate the contribution of diffusion weighted magnetic resonance imaging to the diagnosis and staging of subacute sclerosing panencephalitis. MATERIAL AND METHOD: The study comprised 26 patients diagnosed with subacute sclerosing panencephalitis at our clinic who were undergoing regular follow-up, and a control group of 18 subjects. Clinical staging was determined by Risk and Haddad classification; 12 at Stage II and 14 at Stage III. Diffusion weighted magnetic resonance images were taken of six areas (frontal, parieto-occipital, cerebellar, deep white matter, thalamus and basal ganglia) and by calculating the apparent diffusion coefficient (ADC) values, and a comparison was made between the stages and with the control group. RESULTS: The ADC values of all the areas of the subacute sclerosing panencephalitis patients were found to be significantly higher compared to the control group (p < 0.05). While the mean ADC values of the deep white matter, basal ganglia, frontal and parieto-occipital areas of the Stage II patients were found to be significant compared to the control group (p < 0.05), there was no significance in the other areas (p > 0.05). The ADC values of all the areas of the Stage III patients were found to be significantly high compared to the Stage II values (p < 0.05). CONCLUSION: Diffusion weighted magnetic resonance imaging can be used with other diagnostic criteria to confirm diagnosis of subacute sclerosing panencephalitis and to reveal differences between the stages.

Examining cerebral metabolic abnormalities in chronic obstructive pulmonary disease (COPD) patients by localized proton magnetic resonance spectroscopy (MRS).

PURPOSE: The study was planned based on the hypothesis that cerebral metabolism is impaired in chronic obstructive pulmonary disease (COPD) by using localized in vivo proton magnetic resonance spectroscopy. MATERIALS AND METHODS: The study comprised 30 male patients, aged 45-70 years, with moderate level COPD and an aged matched group of 30 healthy males as the control group. Cerebral metabolism was investigated with proton magnetic resonance spectroscopy (MRS) using multivoxel technique. Data normal distribution conformity was evaluated by the One Sample Kolmogorov Smirnov Test and homogeneity by the One-Way ANOVA test. For both the COPD and control group, data were obtained as mean, standard deviations, minimum and maximum values. Independent sample t-test was used for the comparison of means between the two groups. RESULTS: The frontal and parietal white matter in patients with COPD showed an overall reduction in cerebral metabolites. The NAA (N-acetylaspartate)/Cr (Creatinine), Cho (Choline)/Cr ratios of the cerebral frontal and parietal white matter regions in the COPD group were significantly lower than the control group. CONCLUSIONS: The findings of this study through the use of MRS confirmed that most patients with symptomatic COPD have cerebral metabolic abnormalities.

Epidemiological findings and clinical and magnetic resonance presentations in subacute sclerosing panencephalitis.

Subacute sclerosing panencephalitis (SSPE) is a rare, progressive, inflammatory neurodegenerative disease. This study investigated the relationships of clinical stage with epidemiological and magnetic resonance imaging (MRI) findings in SSPE by retrospective review of 76 cases (57 male) diagnosed by typical periodic electroencephalographic features, clinical symptoms and elevated measles antibody titre in cerebrospinal fluid. Clinical stage at diagnosis was I or II in 48 patients, III in 25 and IV in three. Prominent findings at presentation were atonic/myoclonic seizures (57.9%) and mental deterioration with behaviour alteration (30.3%). Frequent MRI findings (13 - 32 patients) were subcortical, periventricular and cortical involvement and brain atrophy; the corpus callosum, basal ganglia, cerebellum and brainstem were less frequently involved. Five patients had pseudotumour cerebri. Cranial MRI at initial diagnosis was normal in 21 patients (19 stage I/II, two stage III/IV). Abnormal MRI findings were significantly more frequent in the later stages, thus a normal initial cranial MRI does not exclude SSPE, which should, therefore, be kept in mind in childhood demyelinating diseases even when the presentation is unusual.

Impaired endothelial function in patients with ankylosing spondylitis.

OBJECTIVE: In recent years, accelerated atherosclerosis and increased risk of cardiovascular events have been described in patients with rheumatic disease, particularly for rheumatoid arthritis and systemic lupus erythematosus. However, the link between inflammation, atherosclerosis and ankylosing spondylitis is controversial. We evaluated the degree of atherosclerosis and endothelial function of ankylosing spondylitis patients ultrasonographically. METHODS: Fifty-four patients with ankylosing spondylitis (37 +/- 11 yr, 29 males, 25 females) and 31 healthy controls (35 +/- 9 yr, 16 males, 15 females) were consecutively enrolled in the study. Serum lipids, creatinine, glucose, and acute-phase proteins were assessed. The Bath Ankylosing Spondylitis Metrology Index (BASMI), Bath Ankylosing Spondylitis Functional Index (BASFI) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) were also evaluated. Flow-mediated dilatation and endothelium-independent dilatation of the brachial artery and intima-media thickness of the common carotid artery were measured sonographically. RESULTS: Left, right and averaged intima-media thickness of the common carotid artery did not show a statistically significant difference between the ankylosing spondylitis and control groups. However, flow-mediated dilatation was significantly lower in the ankylosing spondylitis patients (14.1 +/- 6.7 vs 17.6 +/- 8%; P = 0.03). Likewise, nitroglycerin-induced dilatation was lower in the patient group, but the difference was not significant (16.4 +/- 6.8 vs 19.8 +/- 10%; P = 0.07). No correlation was detected between flow-mediated dilatation and age, sex, serum lipids, CRP, ESR, smoking habits and disease activity scores. Intima-media thickness of the common carotid artery was positively correlated with age and BASMI score (r = 0.55, P = 0.00; r = 0.22, P = 0.04, respectively). CONCLUSION: This study demonstrates impairment of endothelial function in ankylosing spondylitis.