Successful living-related liver transplantation in a child with familial yellow nail syndrome and fulminant hepatic failure: report of a case

An 11-yr-old boy with familial YNS and FHF and who underwent LRLT is presented. LRLT was performed from his father with YNS. The findings of hepatic failure resolved immediately after LRLT, but severe respiratory complications and chylous ascites were observed during the follow-up. At 12 months after successful LT, the patient has good graft function, but findings of YNS including chronic cough, lymphedema and yellow nails are still present. To the best of our knowledge, this is the first case of YNS who underwent LRLT for FHF.     

Adult attention-deficit hyperactivity disorder in patients with bipolar I disorder in remission: preliminary study

Attention-deficit hyperactivity disorder (ADHD), a syndrome that typically first appears in early childhood, can occur in individuals of all ages. Prospective studies have demonstrated that at least half of children diagnosed as having ADHD continue to suffer the symptoms of this disorder in their adult life with significant impacts on their social status, achievement level and sense of well-being. The purpose of this preliminary study was to determine the rate of ADHD in patients with bipolar disorder (BD) and to examine the effects of comorbid ADHD on several clinical and sociodemographic variables of bipolar patients. Forty-four BD-I patients followed up in psychiatric outpatient clinics in two university hospitals, were assessed for the presence of adult ADHD according to DSM-IV. All patients also completed the Wender Utah Rating Scale for objective evaluation of ADHD. Of 44 patients with BD-I, only seven (15.9%) fulfilled criteria for a diagnosis of adult ADHD. Bipolar disorder-I patients with comorbid ADHD were more likely to be female, and have more affective episodes (especially depressive episodes) than bipolar patients without comorbid ADHD. Age at onset of affective illness was not significantly different between the two groups. In line with results of several previous reports, the present study also showed higher prevalence of ADHD in patients with BD-I than in normal population. A higher number of affective episode in patients with comorbid ADHD may suggest a more severe clinical course of BD in these patients. A larger group of samples is required to clarify the exact association and interaction between these two clinical entities.     

Early diagnostic clues in neonatal chronic gastric volvulus

Purpose

Neonatal gastric volvulus (GV) is a rare clinical entity with a challenging diagnosis. In this study, we aimed to identify clinical and radiological findings to aid in early diagnosis in neonatal GV.

Materials and methods

The medical records of all neonates with GV were retrospectively reviewed. Diagnosis was made based on clinical findings and radiological images, and was documented by an upper gastrointestinal (UGI) contrast study.

Results

A total of eight neonates were included in the study. The most common clinical presentations were non-bilious vomiting and epigastric distention. The findings highly suggestive for GV in plain radiographs include gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium.

Conclusion

GV should be suspected in any newborn with non-bilious vomiting and epigastric distention. It is also important to focus on the clues in the plain radiographs. Gastric double bubble, abnormal gastric distention despite a nasogastric tube, distended stomach lying in a horizontal plane and an air-fluid level in the epigastrium must alert the physicians to the possibility of GV.     

Importance of the liver ultrasound scores in pubertal obese children with nonalcoholic fatty liver disease

AimThe purpose of our study was to determine the relationship between liver ultrasound scores and insulin sensitivity in a population of obese children with nonalcoholic fatty liver disease (NAFLD) and the relationships between other metabolic features and ultrasound scores.MethodsOne hundred sixty-nine obese adolescents, 96 girls, and 73 boys (mean age: 12.7±1.3 years, mean body mass index: 26.3±4.6) were enrolled the study. The obese subjects were divided into 2 groups based on their pubertal status. Ultrasonography findings were scored in this study included hepatorenal echo contrast, liver brightness, deep attenuation, and vascular blurring. Scores ranged from 0 to 6 points, and NAFLD was defined if ultrasound score was ≥ 1. Insulin resistance was evaluated by homeostasis model assessment (HOMA-IR) from fasting samples.ResultsPrevalence of NAFLD in pubertal children (61.9%) had significantly higher than pre-pubertal children (40.8%) (P= .008). Transaminases ratio was significantly correlated in both prepubertal (r= 0.231; P= .03) and pubertal (r= 0.628, P= 0.017) groups. HOMA-IR values were elevated in both groups; however, liver ultrasound score was positively correlated with HOMA-IR (r= 0.735, P= .014) in pubertal children.ConclusionNAFLD prevalence among obese children is quite high, especially pubertal adolescents than prepubertal children. We demonstrated an association between insulin resistance and NAFLD ultrasound scoring in pubertal obese children. We suggested that ultrasound examination of the liver be included in the routine check-up of the pubertal obese children with insulin resistance to allow the detection of NAFLD at an early stage.     

Silent cerebral emboli following percutaneous closure of atrial septal defect in pediatric patients: a diffusion-weighted MRI study

PURPOSE

The aim of this prospective study was to investigate the incidence of silent cerebrovascular embolic events associated with percutaneous closure of atrial septal defect (ASD) in pediatric patients.

METHODS

A total of 23 consecutive pediatric patients (mean age, 10.4±3.8 years; range, 4–17 years) admitted for transcatheter closure of ASD were recruited in the study. The patients were scanned with a 1.5 Tesla clinical scanner. Two cranial magnetic resonance imaging (MRI) examinations were acquired before the procedure and within 24 hours following the catheterization. MRI included turbo spin-echo fluid-attenuated inversion recovery (FLAIR) sequence and diffusion-weighted imaging technique with single-shot echo-planar spin-echo sequence. The transcatheter closure of ASD was performed by three expert interventional cardiologists. Amplatzer septal occluder device was implemented for the closure of the defect. No contrast medium was administered in the course of the procedure.

RESULTS

None of the patients had diffusion restricted cerebral lesions resembling microembolic infarctions on postprocedural MRI. Preprocedural MRI of two patients revealed nonspecific hyperintense white matter lesions on FLAIR images with increased diffusion, which were considered to be older ischemic lesions associated with previously occurred paradoxical embolism.

CONCLUSION

The current study suggests that percutaneous closure of the ASD, when performed by experienced hands, may be free of cerebral microembolization in pediatric patients. However, due to the relatively small sample size, further studies with larger patient groups are needed for the validation of our preliminary results.Acute symptomatic cerebral infarction associated with percutaneous cardiovascular intervention has been reported to have an incidence of 0.09%–1.0% when evaluated solely with neurologic examination (1–4). However, asymptomatic cerebral microemboli detected with transcranial Doppler ultrasonography (US) monitoring and diffusion-weighted imaging (DWI) following either conventional or interventional cardiac catheterization is unexpectedly more common (4–10). The incidence revealed with DWI studies varies between 3.3% and 77% depending on risk factors associated with the patient population and the procedure, in adult studies (9, 10).Due to technologic developments, more children with congenital heart disease are taken to the cardiac catheterization laboratory for interventional treatment. The subclinical focal neurologic events are more difficult to reveal solely with neurologic examination in children compared with the adult age group. Therefore, it is crucial to determine the silent neurologic complications and the risk factors associated with heart catheterization in the pediatric population. There have been a few studies in adults (10–12), but to the best of our knowledge, no clinical studies revealed the association of subclinical ischemic lesions with transcatheter closure of atrial septal defect (ASD) in pediatric patients.Transcatheter closure of ASD, which is an alternative to open heart surgery, is applied as a first-line treatment modality in appropriate patients (13). Despite increasing rates of complete closure with ongoing technologic innovations, neurologic complications associated with peri-interventional cerebral embolism have been reported (10, 11). In this single-center, prospective study, we aimed to investigate the incidence and the risk factors of silent cerebral embolism following transcatheter closure of ASD with the Amplatzer septal occluder (AGA Medical Corp.) device in pediatric patients.     

Anatomical aspects of optic nerve decompression in transcranial and transsphenoidal approach

Purpose

The proximal portion of the optic nerve is quite prone to injury at the entrance of the optic foramen by tumoral or traumatic pathologies. As a result, it is important to show which way and which part we can effectively and safely decompress the pathologies affecting the optic nerves. In this study, we compared the decompression of the proximal segment of the optic canal Likewise, we investigated the anatomy and histopathology of the opticocarotid region from below and above.

Effect of Aerodiol administration on ocular arteries in postmenopausal women

Objective. The aim of the present study was to evaluate the alteration of ocular blood hemodynamics after intranasal administration of 17β-estradiol, through measurement of the ophthalmic artery (OA) and the central retinal artery (CRA) using color duplex sonography.

Methods. Thirty healthy women who had been naturally postmenopausal for at least 1 year were enrolled in the study. A randomized, placebo-controlled, crossover, double-blinded study was conducted of the acute effect of 17β-estradiol (Aerodiol®; Servier, Chambrayles-Tours, France) on OA and CRA blood flow using color duplex sonography.

Results. The peak systolic and end diastolic velocities of the CRA were increased significantly after 17β-estradiol administration compared with placebo. A significant decrease was also found in the pulsatility and resistive indices of the CRA. However, there were no statistically significant differences in OA flow velocities or pulsatility and resistive indices.

Conclusions. Nasal 17β-estradiol administration in postmenopausal women causes an improvement in the ocular vascular Doppler indices. These results suggest that there could be a positive effect of Aerodiol® on middle-sized arteries and arterioles.     

Audiological findings in otospondylomegaepiphyseal dysplasia (OSMED) associated with a novel mutation in COL11A2

The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the newborn hearing screening. A 4-year-old boy with otospondylomegaepiphyseal dysplasia (OSMED) was followed up after birth for hearing loss. Transient Otoacoustic Emissions (TEOAEs), Distortion Product Otoacoustic Emissions (DPOAEs), Automated and Clinical Auditory Brainstem Response (AABR and ABR) measurements, Visual Reinforcement Audiometry, immitansmetric measurements and hearing threshold measurements were performed for audiological evaluation. The patient developed sensorineural hearing loss at 11 months of age while his hearing was normal at birth. Because of auditory-verbal training with hearing aids started at 20 months of age, he now has normal verbal communication with his peers. This study clearly demonstrates that hearing loss develops in infancy in patients with OSMED and underscores the importance of continued hearing screening beyond newborn period for early intervention of hearing impairment and communication problems.     

Cutaneous silica granuloma: a lesion that might be clinically underdiagnosed

Cutaneous silica granuloma is a poorly understood, uncommon condition. There have been relatively few reports of cutaneous silica granuloma despite the well-known ubiquitous nature of silica in the environment. The characteristic latency period between the time of silica exposure to the time of clinical onset of granuloma, lack of clear-cut histories of exposure in most cases and likelihood of spontaneous resolution, may challenge the diagnosis. Thus, cutaneous silica granuloma might be a lesion that is often underdiagnosed. Here we describe a patient with characteristic findings of cutaneous silica granuloma.