As fast as an X-ray: real-time magnetic resonance imaging for diagnosis of idiopathic scoliosis in children and adolescents.

BACKGROUND: Idiopathic scoliosis is common in adolescence. Due to the rapid growth of the spine, it must be monitored closely with radiographs to ensure timely intervention when therapy is needed. As these radiographs continue into young adulthood, patients are repeatedly exposed to ionizing radiation. OBJECTIVE: This study aimed to investigate whether real-time magnetic resonance imaging (MRI) is equivalent to conventional radiography in juvenile idiopathic scoliosis for determining curvature, rotation and the Risser stage. Additionally, the time requirement should be quantified. MATERIALS AND METHODS: Children with idiopathic scoliosis who had postero-anterior whole-spine radiography for clinical indications were included in this prospective study. A real-time spine MRI was performed at 3 tesla in the supine position, capturing images in both the coronal and sagittal planes. The scoliosis was assessed using Cobb angle, rotation was evaluated based on Nash and Moe criteria, and the Risser stage was determined for each modality. The correlations between modalities and a correction factor for the Cobb angle between the standing and supine position were calculated. RESULTS: A total of 33 children (aged 5-17 years), who met the inclusion criteria, were recruited. The Cobb angle (R2 = 0.972; P < 0.01) was positively correlated with a correction factor of 1.07 between modalities. Additionally, the degree of rotation (R2 = 0.92; P < 0.01) and the Risser stage (R2 = 0.93; P < 0.01) demonstrated a strong correlation. CONCLUSION: Real-time MRI is equivalent to conventional radiography in determining baseline parameters. Furthermore, it is radiation-free and less time-consuming.

Complete Colonic Duplication and Perineal Fistula: Transanal Mucosectomy of the Ectopic Rectum.

Background Colonic duplication may present in different anatomic variants. The surgical approach towards these anomalies can be challenging and has implications for subsequent future continence. Case Description We report on a 1-year-old girl with congenital heart defect and pacemaker who was referred to us with an anorectal malformation. The patient was stooling from both an anus and a perineal fistula. Examination under anesthesia revealed an orthotopic and age-appropriate sized anus with surrounding sphincter and a second rectal lumen ending as a perineal fistula. A computed tomography and contrast enema indicated colonic duplication. Exploratory laparotomy showed a duplicated terminal ileum leading to two ceca and appendices, which joined to a duplicated colon with a septum and common mesentery. At the rectosigmoid junction, one part of the duplication ended as a perineal fistula, the second one led to the (orthotope) anus. The common colonic wall was divided using a stapler. The rectal duplication leading to the perineal fistula was not completely resected but treated by mucosectomy only (Soave plane) leaving its muscular cuff in place. Finally, an ileostomy was created. The postoperative course was uneventful. A contrast enema prior to ostomy takedown demonstrated a well-configurated colon and rectum without stenosis or impaction. The girl is currently continent with a complete resolution of her constipation. Conclusion In cases of complete colonic duplication division of the common wall is simple and safe. Mucosectomy of the ectopic rectum limits pelvic dissection and preserves the entire muscular wall of the duplicated orthotope rectum.

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

Mutations in SCN2A have been associated with benign familial neonatal-infantile seizures (BFNIS) as well as infantile-onset epileptic encephalopathy, such as Ohtahara syndrome (OS). We describe a family with 3 affected individuals carrying the novel SCN2A missense variant c.1147C>G, p.Q383E affecting a residue proximal to the highly conserved selectivity filter in the P-loop of the voltage-gated sodium channel (Nav1.2). All 3 individuals presented with seizures in early infancy. However, there were striking differences in the spectrum of clinical presentations, ranging from BFNIS to OS. A change of ion selectivity of Nav1.2 is considered to be the potential pathomechanism underlying this Nav1.2 channel dysfunction. The observation of benign and severe phenotypes due to an identical mutation within one family contradicts the hypothesis of different modes of inheritance as a mandatory feature discriminating BFNIS from SCN2A encephalopathy.

Hydrocephalus in aqueductal stenosis--a retrospective outcome analysis and proposal of subtype classification.

UNLABELLED: Treatment of aqueductal stenosis (AQS) has undergone several paradigm shifts during the past decades. Currently, endoscopic ventriculostomy (ETV) is recommended as treatment of choice. Several authors have addressed the issue of variable ETV success rates depending on age and pathogenetic factors. However, success rates have usually been defined as "ETV non-failure." The aim of the study was a retrospective analysis of radiological and neurological treatment response after ETV or VP-shunting (VPS) in age-dependent subtypes of AQS. PATIENTS AND METHODS: Eighty patients (median age 12.0 years, range 0-79 years) have been treated for MRI-proven aqueductal stenosis. Neurological treatment success was defined by neurological improvement and, in childhood, head circumference. Radiological response was measured as Evan's index in follow-up MRI. Initial signs and symptoms, type of surgery, and complications were analyzed. RESULTS: Four types of AQS have been defined with distinct age ranges and symptomatology: congenital type I (n = 24), chronic progressive (tectal tumor-like) type II (n = 23), acute type III (n = 10), and adult chronic (normal-pressure hydrocephalus-like) type IV (n = 23). Retrospective analysis of neurological and radiological outcome suggested that congenital type I (<1 years of age) may be more successfully treated with VPS than with ETV (81 vs. 50 %). Treatment of chronic juvenile type II (age 2-15) by ETV 19 % compared to 57 % after VP-shunt, but similar neurological improvement (>80 %). There has been no influence of persistent ventriculomegaly in type II after ETV in contrast to VPS therapy for neurological outcome. Adult acute type III (age > 15 years) responded excellent to ETV. Chronic type IV (iNPH-like) patients (age > 21) responded neurologically in 70 % after ETV and VPS, but radiological response was low (5 %). CONCLUSION: AQS can be divided into four distinct age groups and types in regards of clinical course and symptomatology. Depending on the AQS type, ETV cannot be unequivocally recommended. Congenital type I AQS may have a better neurological outcome with VP-shunt whereas acute type III offers excellent ETV results. Chronic progressive type II still requires prospective investigation of long-term ETV outcome, especially when ventriculomegaly persists. Late chronic type IV seems to result in similar outcome after VP-shunt and ETV.

How early can one diagnose Cushing's disease? An early diagnosis in a case of prepubertal Cushing's disease.

BACKGROUND: Cushing's disease is very rare in children, and the diagnosis is frequently delayed by several years. OBJECTIVE: We report a case of prepubertal Cushing's disease with a medical history of only 9 months. This case illustrates the difficulties involved in diagnosing children at the early stage of the disease. CASE PRESENTATION: An 8-year-old prepubertal boy presented with rapid weight gain accompanied by a decreasing growth velocity and hirsutism. Thyroid function tests and growth factor levels were normal, thus excluding hypothyroidism and growth hormone deficiency. Cushing's syndrome was confirmed by elevated 24-h urinary free cortisol levels, increased diurnal cortisol levels, and a lack of cortisol suppression in the low-dose dexamethasone suppression test. Further tests to investigate the source of the hypercortisolism showed the following results: Basal morning adrenocorticotropic hormone (ACTH) was normal. The high-dose dexamethasone suppression test led to a 51% decrease in cortisol level. In the corticotropin-releasing hormone (CRH) test, ACTH and cortisol increased only by 28%. Repeated magnetic resonance imaging (MRI) finally revealed a microadenoma in the anterior pituitary, thus establishng the diagnosis of Cushing's disease. Upon diagnosis, the patient underwent transsphenoidal surgery. Histological analysis confirmed an ACTH-secreting pituitary adenoma. CONCLUSION: This case illustrates the difficulties associated with the clinical, biochemical, and radiological diagnoses of Cushing's disease in children. Early diagnosis remains a challenge because test results often do not match standard diagnostic criteria.