Dedicated neuroimaging analysis in children with primary headaches: prevalence of lesions and a comparison between patients with and without migraines.

BACKGROUND: This study evaluated the prevalence and types of intracranial lesions through dedicated imaging analysis of primary headaches in children and compared them between patients with and without migraine. METHODS: This study included 190 children diagnosed with primary headache who underwent neuroimaging, including brain computed tomography (CT), CT angiography (CTA), and brain magnetic resonance imaging (MRI). All patients with primary headaches was divided into two groups, namely, the migraine and non-migraine groups, on the basis of data from electronic medical records. Clinical characteristics and imaging findings were evaluated and compared between the two groups. RESULTS: Patients with migraine were old and had a longer period from symptom onset to diagnosis. CT was normal in 71 of 95 patients, whereas 7 of 29 patients who underwent CTA had vascular lesions; the migraine group (n = 6/20, [30%]) had higher incidence of vascular lesions than the non-migraine group (n = 1/9, [11.1%]); however, there was no statistically significant difference (p = 0.382). Furthermore, 57.5% (61/106) of children showed normal brain MRI. The most common brain MRI finding was dilated perivascular space (n = 18, [16.8%]). Most perivascular spaces were located in the basal ganglia (n = 72, [75.8%]) and were in linear patterns (n = 58, [63.0%]). There was no statistically significant difference between the two groups. CONCLUSION: A low prevalence of significant abnormalities was found in children with primary headaches. Dilated perivascular space was the most common finding in both groups on MRI. CTA showed more vascular lesions in the migraine group than in the non-migraine group. Therefore, further evaluations are needed to reveal the relationship between vascular lesions or dilated perivascular space and pediatric primary headaches.

Accelerated 3D T2-weighted images using compressed sensing for pediatric brain imaging.

PURPOSE: The purpose of this study was to compare the image quality of the 3D T2-weighted images accelerated using conventional method (CAI-SPACE) with the images accelerated using compressed sensing (CS-SPACE) in pediatric brain imaging. METHODS: A total of 116 brain MRI (53 with CAI-SPACE and 63 with CS-SPACE) were obtained from children 16 years old or younger. Quantitative image quality was evaluated using the apparent signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR). The sequences were qualitatively evaluated for overall image quality, general artifact, cerebrospinal fluid (CSF)-related artifact, and grey-white matter differentiation. The two sequences were compared for the total and two age groups (< 24 months vs. ≥ 24 months). RESULTS: Compressed sensing application in 3D T2-weighted imaging resulted in 8.5% reduction in scanning time. Quantitative image quality analysis showed higher apparent SNR (median [Interquartile range]; 29 [25] vs. 23 [14], P = 0.005) and CNR (0.231 [0.121] vs. 0.165 [0.120], P = 0.027) with CS-SPACE compared to CAI-SPACE. Qualitative image quality analysis showed better image quality with CS-SPACE for general (P = 0.024) and CSF-related artifact (P < 0.001). CSF-related artifacts reduction was prominent in the older age group (≥ 24 months). Overall image quality (P = 0.162) and grey-white matter differentiation (P = 0.397) were comparable between CAI-SPACE and CS-SPACE. CONCLUSION: Compressed sensing application in 3D T2-weighted images modestly reduced acquisition time and lowered CSF-related artifact compared to conventional images of the pediatric brain.

Dedicated sellar magnetic resonance imaging protocols without contrast enhancement in girls with central precocious puberty: prevalence of pathologic lesions and clinical correlation

ABSTRACT Objective: Contrast-enhanced brain magnetic resonance imaging (MRI) is routinely performed in children with central precocious puberty (CPP). We evaluated the value of a dedicated sellar MRI protocol without contrast enhancement in girls with CPP. Subjects and methods: This study included 261 girls diagnosed with CPP. We performed sellar MRI scanning without gadolinium enhancement of the hypothalamic-pituitary area (HPA) at the pituitary level, including additional T2-weighted imaging of whole-brain scans to check for other lesions. We evaluated the prevalence of intracranial lesions via this MR protocol. In addition,the correlation between the clinical parameters and morphology of the pituitary gland on the images was assessed. Results: Intracranial lesions were detected in 17 (6.5%) of the 261 girls. Of the 17 girls with abnormalities, 16 (94.1%) had findings in brain areas other than the HPA. The weight, height, Tanner stage of patients were significantly (p < 0.05) higher in the group with greater pituitary height. Patient weight and height, Tanner stage of breast development, and luteinizing hormone (LH) levels were significantly (p < 0.05) greater in those with a higher pituitary grade as determined on sellar MRI. Conclusion: A dedicated unenhanced sellar MRI protocol provides valuable information on brain lesions and pituitary morphology. We found a significantly low prevalence of brain lesions among girls with CPP. Analysis of the height or shape of the pituitary gland on sellar MRI revealed significant correlations with the weight, height, Tanner stage, and LH levels of the patients.

Dedicated sellar magnetic resonance imaging protocols without contrast enhancement in girls with central precocious puberty: prevalence of pathologic lesions and clinical correlation.

OBJECTIVE: Contrast-enhanced brain magnetic resonance imaging (MRI) is routinely performed in children with central precocious puberty (CPP). We evaluated the value of a dedicated sellar MRI protocol without contrast enhancement in girls with CPP. METHODS: This study included 261 girls diagnosed with CPP. We performed sellar MRI scanning without gadolinium enhancement of the hypothalamic-pituitary area (HPA) at the pituitary level, including additional T2-weighted imaging of whole-brain scans to check for other lesions. We evaluated the prevalence of intracranial lesions via this MR protocol. In addition,the correlation between the clinical parameters and morphology of the pituitary gland on the images was assessed. RESULTS: Intracranial lesions were detected in 17 (6.5%) of the 261 girls. Of the 17 girls with abnormalities, 16 (94.1%) had findings in brain areas other than the HPA. The weight, height, Tanner stage of patients were significantly (p < 0.05) higher in the group with greater pituitary height. Patient weight and height, Tanner stage of breast development, and luteinizing hormone (LH) levels were significantly (p < 0.05) greater in those with a higher pituitary grade as determined on sellar MRI. CONCLUSION: A dedicated unenhanced sellar MRI protocol provides valuable information on brain lesions and pituitary morphology. We found a significantly low prevalence of brain lesions among girls with CPP. Analysis of the height or shape of the pituitary gland on sellar MRI revealed significant correlations with the weight, height, Tanner stage, and LH levels of the patients.

Filum terminale lipoma revealed by screening spinal ultrasonography in infants with simple sacral dimple.

PURPOSE: Spine ultrasound (US) examinations are widely performed in neonates and infants with sacral dimple to exclude associated congenital malformations. Increased utilization of, and improvements in, sonographic technology has resulted in the frequent identification of echogenic filum terminale (FT) containing fat below the conus medullaris, termed FT lipoma or fatty FT. We examined the value of screening US, especially for diagnosis of FT lipoma, in infants with "simple sacral dimple." METHODS: This study was a retrospective review of spinal US and magnetic resonance imaging (MRI) findings performed in our hospital on full-term and preterm infants with simple sacral dimple. We reviewed the clinical records and spinal sonographic scans of 337 patients, and the MRI scans of 40 patients with simple sacral dimple. We evaluated the thickness and echogenicity of FT on US, and the presence of fat in the FT was determined by MRI. RESULTS: In total, 50 of the 337 patients showed strong echogenic FT on US. Correlation with MRI data was possible in 40 of the 50 patients with strong echogenic FT. MRI scans of all 40 of these patients revealed the presence of fat in the FT. The maximum thickness in the strong echogenic area of the FT lipomas of these 40 patients was 1.7 ± 0.4 mm (range 1.2-2.5 mm), and the minimum thickness was 1.1 ± 0.2 mm (range 0.8-1.4 mm). Among the 40 infants, 13 (32%) had maximum FT thickness > 2 mm (mean thickness 2.2 ± 0.2 mm; range 2-2.5 mm) and 27 (68%) had echogenic FT < 2 mm thick (mean thickness 1.5 ± 0.2 mm; range 1-1.9 mm). The length of the echogenic segment on US was about 1.9-5.1 cm (mean length 3.4 ± 1.1 cm). All 40 patients showed FT lipoma without any associated abnormalities, such as cord tethering or low-lying conus. Among the total population of 337 patients, 30 (8.9%) showed borderline low-lying conus medullaris located at the L2-3 disc space or midpoint of the L3 vertebra. All 30 of these patients had borderline low-lying conus without other associated abnormalities. Filar cyst was noted in 36 of 337 patients (10.6%), without other associated abnormalities. No patient underwent surgery associated with a risk of neurological problems within a follow-up period of 10-37 months. CONCLUSIONS: Although screening US in infants with simple sacral dimple yielded benign imaging findings, the presence of FT lipoma was common in these infants. Therefore, it is necessary to carefully observe changes in echogenicity during measurement of FT thickness on US. All FT lipomas were low risk and had no associated abnormalities, such as cord tethering or low-lying conus.

Giant arachnoid granulation in a child with benign intracranial hypertension: an unusual case.

CASE PRESENTATION: A 6-year-old girl complained of diplopia and headache over a 2-week period after sustaining a minor head injury. Her neurological examinations were normal, but visual examination identified bilateral papilledema. Magnetic resonance imaging of the brain revealed a protruding nodular lesion causing compression within the anterior superior sagittal sinus in the midline, showing high signal intensity on T2-weighted imaging (T2WI) and low signal intensity on T1WI, similar to that of cerebrospinal fluid. Enhanced T1WI showed irregular narrowing of the anterior superior sagittal sinus adjacent to this lesion. The cortical vein drained to the frontal pole of the arachnoid granulation lesion and into the superior sagittal sinus. No other parenchymal abnormality was noted. A lumbar puncture showed increased opening pressure (30 mmHg), and the laboratory findings were normal. Based on the imaging and clinical findings, benign intracranial venous hypertension with giant arachnoid granulation was diagnosed. The patient's symptoms were reduced satisfactorily following daily treatment with 750 mg acetazolamide. CONCLUSION: We report a case of giant arachnoid granulation involving the anterior superior sagittal sinus in a 6-year-old girl who presented with benign intracranial hypertension. Clinicians should be aware of this rare anatomic variant to avoid unnecessary invasive procedures or examinations in children with benign intracranial hypertension.

Axial Spondylometaphyseal Dysplasia Is Caused by C21orf2 Mutations.

Axial spondylometaphyseal dysplasia (axial SMD) is an autosomal recessive disease characterized by dysplasia of axial skeleton and retinal dystrophy. We conducted whole exome sequencing and identified C21orf2 (chromosome 21 open reading frame 2) as a disease gene for axial SMD. C21orf2 mutations have been recently found to cause isolated retinal degeneration and Jeune syndrome. We found a total of five biallelic C21orf2 mutations in six families out of nine: three missense and two splicing mutations in patients with various ethnic backgrounds. The pathogenic effects of the splicing (splice-site and branch-point) mutations were confirmed on RNA level, which showed complex patterns of abnormal splicing. C21orf2 mutations presented with a wide range of skeletal phenotypes, including cupped and flared anterior ends of ribs, lacy ilia and metaphyseal dysplasia of proximal femora. Analysis of patients without C21orf2 mutation indicated genetic heterogeneity of axial SMD. Functional data in chondrocyte suggest C21orf2 is implicated in cartilage differentiation. C21orf2 protein was localized to the connecting cilium of the cone and rod photoreceptors, confirming its significance in retinal function. Our study indicates that axial SMD is a member of a unique group of ciliopathy affecting skeleton and retina.

Diagnostic performance of thyroid ultrasonography screening in pediatric patients with a hypothyroid, hyperthyroid or euthyroid goiter.

BACKGROUND: Goiter is frequently the first indicator of thyroid disease in children. OBJECTIVE: To evaluate the usefulness of ultrasonography (US) in the identification of potential malignant nodules and autoimmune thyroiditis in children with diffuse goiter. MATERIALS AND METHODS: This study consisted of 113 patients <20 years with a diffuse goiter who underwent thyroid US. Parenchymal echogenicity and the presence of nodules and abnormal lymph nodes were evaluated on US; if a thyroid nodule was detected, its characteristics were analyzed. The diagnostic accuracy of the US findings in the diagnosis of autoimmune thyroid disease was assessed. RESULTS: Thyroid nodules were detected on US in 72 of the 113 (63.7%) patients. Of these, 65 (90.3%) had probably benign nodules and 4 (5.6%) patients had nodules suspicious of malignancy. The remaining had indeterminate nodules only. In one child with suspected malignant nodules, papillary thyroid cancer with coexisting autoimmune thyroiditis was confirmed. Hypoechogenicity was visualized in 23 (88.5%) patients with autoimmune thyroiditis and 12 (85.7%) with Graves disease. The sensitivity and specificity of micronodulation for autoimmune thyroiditis were 53.9% and 98.3%, respectively. CONCLUSION: Although the potential for malignant nodules is relatively low in children with diffuse goiter, US can detect focal thyroid disease and characterize the nodules. US thus plays a useful role in excluding autoimmune thyroiditis in this population.

Risk factors associated with nephrocalcinosis in preterm infants.

PURPOSE: The objective was to identify the risk factors associated with nephrocalcinosis (NC) in preterm infants. METHODS: NC was diagnosed by renal sonography at 4 or 8 weeks of life, and 10 infants who had findings of type 3 or 4 NC were classified as the NC group. Various clinical and laboratory factors were compared between NC and control groups. RESULTS: Serum sodium (Na) on day 1, serum creatinine and fractional excretion of calcium (FeCa) at 1 and 2 weeks, and serum calcium (Ca), fractional excretion of sodium (FeNa), and urine Na on 2 weeks of life were significantly different between the two groups: the NC group showed significantly higher serum creatinine, FeNa, and FeCa than the control group, suggesting a greater decrease in renal function in the NC group. Differences of the laboratory findings disappeared after 4 weeks of life. The strongest risk factor was birth weight. CONCLUSION: A transient decrease in renal function during the first 2 weeks of life was associated with development of NC in preterm very low-birth-weight infants, and the risk of NC increased as birth weight decreased.

Esophageal lung diagnosed following the primary repair of esophageal atresia with tracheo-esophageal fistula in a neonate.

Communicating bronchopulmonary foregut malformations are a diverse group of congenital anomalies characterized by a fistula between the respiratory and alimentary systems. Among these malformations, the association of an esophageal lung with esophageal atresia (EA) and tracheo-esophageal fistula (TEF) is extremely rare. We report the case of a neonate with esophageal lung detected following the primary repair of EA with TEF. Despite the rarity of esophageal lung with EA and TEF, it should be considered to develop in infants with abnormal findings on chest radiographs and an unusual preoperative and/or in the postoperative clinical course of EA and TEF. Swallowing study with water-soluble contrast medium is the investigation of choice to demonstrate the anatomic connection, if EA and TEF were already primarily repaired. If not, although the use of preoperative CT may be debatable in neonates due to the associated radiation exposure, in selected cases such as our patient, preoperative CT can be useful for early preoperative diagnosis.

Neonatal pneumoperitoneum and meconium-stained peritoneal fluid of uncertain cause.

A 2-day-old male infant was referred to hospital because he was continually moaning. Massive pneumoperitoneum was observed on plain radiographs on the day of admission. This case is unique in that the massive pneumoperitoneum with meconium-stained peritoneal fluid was not associated with any evidence of bowel perforation seen on laparotomy.

Fetal primary small bowel volvulus in a child without intestinal malrotation.

Fetal primary small bowel volvulus without atresia or malrotation is an extremely rare but life-threatening surgical emergency. We report a case of primary small bowel volvulus that presented as sudden fetal distress and was diagnosed on the basis of the 'whirl-pool sign' of fetal sonography. This diagnosis led to emergency operation after birth at the third trimester with a good outcome. Although the pathogenesis of fetal primary small bowel volvulus is unclear, ganglion cell immaturity may play a role in the etiology.

Extensive unilateral cerebral infarct in a full-term newborn.

The authors report a case of extensive, unilateral hemispheric infarct with internal carotid artery (ICA) occlusion in a term infant emphasizing the value of MRI, particularly diffusion weighted imaging (DWI).

Disseminated congenital tuberculosis presenting as peritonitis in an infant.

Congenital tuberculosis is a rare disease which is curable after early diagnosis. Making an early diagnosis of tuberculosis in an infant is difficult, however, because of its nonspecific clinical findings. It therefore requires a high index of suspicion. In this paper we report the case of an infant with disseminated congenital tuberculosis involving the chest, liver, spleen, abdominal lymph nodes, mesentery, and peritoneum, and which presented as chylous ascites with peritonitis.

Haddad syndrome presenting with abdominal distension associated with long-segment aganglionosis.

Haddad syndrome is a form of neurocristopathy characterized by a combination of congenital central hypoventilation syndrome and Hirschsprung disease (HD). Although Haddad syndrome is extremely rare, awareness of the combination of long-segment HD in Haddad syndrome as well as radiographic manifestations may help to ensure a timely diagnosis as well as to facilitate optimal treatment of this unusual condition. We report a case of Haddad syndrome with long-segment, intestinal aganglionosis in a newborn infant. This report emphasizes the features of HD in children with Haddad syndrome and suggests that specific attention be given to its interpretation on plain radiographs.

Axial spondylometaphyseal dysplasia: additional reports.

Axial spondylometaphyseal dysplasia (SMD) (OMIM 602271) is an uncommon skeletal dysplasia characterized by metaphyseal changes of truncal-juxtatruncal bones, including the proximal femora, and retinal abnormalities. The disorder has not attracted much attention since initially reported; however, it has been included in the nosology of genetic skeletal disorders [Warman et al. (2011); Am J Med Genet Part A 155A:943-968] in part because of a recent publication of two additional cases [Isidor et al. (2010); Am J Med Genet Part A 152A:1550-1554]. We report here on the clinical and radiological manifestations in seven affected individuals from five families (three sporadic cases and two familial cases). Based on our observations and Isidor's report, the clinical and radiological hallmarks of axial SMD can be defined: The main clinical findings are postnatal growth failure, rhizomelic short stature in early childhood evolving into short trunk in late childhood, and thoracic hypoplasia that may cause mild to moderate respiratory problems in the neonatal period and later susceptibility to airway infection. Impaired visual acuity comes to medical attention in early life and function rapidly deteriorates. Retinal changes are diagnosed as retinitis pigmentosa or pigmentary retinal degeneration on fundoscopic examination and cone-rod dystrophy on electroretinogram. The radiological hallmarks include short ribs with flared, cupped anterior ends, mild spondylar dysplasia, lacy iliac crests, and metaphyseal irregularities essentially confined to the proximal femora. Equally affected sibling pairs of opposite gender and parental consanguinity are strongly suggestive of autosomal recessive inheritance.

Postoperative ileo-ileal intussusception following surgical resection of patent omphalomesenteric duct.

A female neonate with patent omphalomesenteric duct was treated by ductal excision. Six days following surgery, she developed vomiting and abdominal distension. On plain radiographs, distended bowel loops with multiple, air-fluid levels consistent with an intestinal obstruction were evident. Sonography demonstrated an ileo-ileal intussusception. At surgery, a 3-cm, ileo-ileal intussusception was noted proximal to the previous Lembert suture site and was manually reduced. Awareness of the possibility of small-bowel intussusception following surgery was critical to ensuring prompt and successful treatment of this infant.