There is wide discrepancy between common clinical and radiologic presentations of branchial sinuses arising from the pyriform fossa and the theoretic course of third and fourth branchial arch anomalies. The purpose of this study was to revisit the clinical presentations and imaging features of such anomalies in children.A retrospective review of institutional and diagnostic imaging data bases from 1998 to 2008 for reported cases of third and fourth branchial cleft anomalies was conducted. Clinical presentation, pharyngoscopy results, and imaging features in all the patients were evaluated. Surgical and histopathology correlation in patients who underwent excision of the tract was also obtained.Twenty reported cases described as third or fourth branchial apparatus anomalies were identified. There were 12 females and 8 males with a mean age of 84.6 months. The most common presentation was an inflammatory neck mass (18/20, 90%) almost always involving the thyroid gland. Most lesions were on the left side (16/20, 80%). Pharyngoscopy showed a sinus opening at the piriform fossa in 18/20 (90%) cases. None of the cases followed the classic theoretic pathway of third and fourth arch remnants. Histopathology showed tracts lined with pseudostratified squamous epithelium or ciliated columnar epithelium often associated with inflammatory changes in 17 surgically resected cases.Branchial sinuses arising from the pyriform fossa often present with an inflammatory neck mass involving the thyroid lobe, most often on the left side. Imaging and surgical findings suggest that they arise from the embryonal thymopharyngeal duct of the third branchial pouch, because they do not follow the hypothetic course of third or fourth arch fistulas.
Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized.The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented unusual MRI findings. The authors reviewed clinical history, MRI abnormalities, and GFAP mutations.All patients had juvenile disease onset with signs of brainstem or spinal cord dysfunction. None of the patients had a macrocephaly. The MRI abnormalities were dominated by medulla and spinal cord abnormalities, either signal abnormalities or atrophy. One patient had only minor cerebral white matter abnormalities. A peculiar finding was the presence of a kind of garland along the ventricular wall in four patients. Three patients had an unusual GFAP mutation, one of which was a duplication mutation of two amino acids, and one an insertion deletion.Signal abnormalities or atrophy of the medulla or spinal cord on MRI are sufficient to warrant DNA analysis for Alexander disease. Ventricular garlands constitute a new sign of the disease. Unusual phenotypes of Alexander disease are found among patients with late onset and protracted disease course.
Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality. Over 320 genes have been implicated showing the genetic heterogeneity of the condition. AMC can be of extrinsic aetiology resulting from intrauterine crowding secondary to congenital structural uterine abnormalities (eg, bicornuate or septate uterus), uterine tumors (eg, fibroid), or multifetal pregnancy or intrinsic/primary/fetal aetiology, due to functional abnormalities in the brain, spinal cord, peripheral nerves, neuromuscular junction, muscles, bones, restrictive dermopathies, tendons and joints. Unlike many of the intrinsic/primary/fetal causes which are difficult to treat, secondary AMC can be treated by physiotherapy with good response. Primary cases may present prenatally with fetal akinesia associated with joint contractures and occasionally brain abnormalities, decreased muscle bulk, polyhydramnios, and nonvertex presentation while the secondary cases usually present with isolated contractures. Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address future reproductive plans.
A needle for intravenous fluid administration in a newborn was accidentally placed in the sagittal sinus and resulted in dural sinus air embolism. CT findings are described and the risks for venous air embolism are discussed.
The abnormalities of the long arm of chromosome 18 (18q) constitute a complex spectrum. We aimed to systematically analyze their MR imaging features. We hypothesized that there would be variable but recognizable white matter and structural patterns in this cohort.
The cover image is based on the Review Fetal arthrogryposis multiplex congenita/fetal akinesia deformation sequence (FADS)—Aetiology, diagnosis, and management by Kirsten M. Niles et al., https://doi.org/10.1002/pd.5505.
Abstract Autosomal recessive microcephaly and chorioretinopathy‐1 (MCCRP1) is a rare Mendelian disorder resulting from biallelic loss of function variants in Tubulin‐Gamma Complex Associated Protein 6 ( TUBGCP6 , MIM#610053). Clinical features of this disorder include microcephaly, cognitive impairment, dysmorphic features, and variable ophthalmological anomalies including chorioretinopathy. Microcephaly can be recognized prenatally and visual impairment becomes evident during the first year of life. The clinical presentation resembles the findings in some acquired conditions such as congenital toxoplasmosis and cytomegalovirus infections; thus, it is important to recognize and diagnose this syndrome in view of its impact on patient health management and familial reproductive plans. To date, only seven molecularly confirmed patients from five unrelated families have been reported. We report an additional four unrelated patients with TUBGCP6 variants including one prenatal diagnosis and review the clinical phenotypes and genotypes of all the known cases. This report expands the molecular and phenotypic spectrum of TUBGCP6 and includes additional prenatal findings associated with MCCRP1.
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