Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.

We report a case of Trichorhinophalangeal syndrome type I (TRPS1) in a 16-year-old boy who was referred due to painless finger deformities over the last year. Legg-Calvé-Perthes disease (LGP) had been diagnosed at age 7 and required surgical treatment at age 12. Parents were healthy and non consanguineous; there was family history of pectus carinatum of maternal lineage. On examination the patient presented a bulbous nose, thin and sparse scalp hair; pectus carinatum; clinodactyly of the first and fifth fingers and hard painless swelling of all of the proximal interphalangeal joints; brachydactyly of the toes. Laboratory tests were unremarkable and radiographic studies revealed distinctive abnormalities of the hands (e.g., epiphyseal coning). This diagnosis was confirmed by gene sequencing, which identified in heterozygosity a pathogenic variant c.124G>T (p.Glu42Ter) in the exon 3 of the TRPS1 gene. The diagnosis of TRPS1 may be suspected upon identification of characteristic physical features, a compatible clinical history and imaging findings.

BOTOX-A injection of salivary glands for drooling.

BACKGROUND AND PURPOSE: Drooling is a challenging entity to manage. Botulinum toxin A (BOTOX-A) infiltration of salivary glands is a promising alternative to surgical treatment. This study aims to assess the outcome of BOTOX-A salivary glands infiltration in children with drooling. METHODS: Patients treated between January 2012 and March 2015 were enrolled. BOTOX-A was injected in the parotid and submandibular glands under ultrasound control and general inhalational anesthesia. The outcome was evaluated through the DSFS: Drooling Severity (1-best to 5-worst) and Frequency (1 to 4) Scale, that was applied before treatment, and 1-, 3-, and 6-month after injection. The inclusion criteria were a DSS ≥4 and/or DFS ≥3. Statistical significance was set at 5%. RESULTS: There were 17 patients aged 12.1±5.1 [4-19]years, all of them with neurologic impairment. After the first injection, 13 (76.5%) patients had reduction of the severity (S) and 12 (70.6%) of the frequency (F) scale; in 6 (35.5%) patients drooling resolved completely. Pre-treatment S+F score was 8.59±0.71 [7-9]; it decreased significantly to 4.65±2.32 (p=0.001) at 1-month post-injection evaluation. At 3-month and 6-month the scores were also significantly lower than the pre-treatment one (4.00±1.96, p=0.002; 5.36±2.20, p=0.005; respectively), but there was a significant increase between the 3-month and 6-month evaluations (p=0.01). With a follow-up of 20.1±9.2 [4-38] months, 4 out of the 13 successful injections needed a second one after 7.5±3.1 [3-10] months. The patient with the longest time not requiring re-injection had 28months of follow-up. One (6%) patient presented mild dysphagia that regressed spontaneously. All but two (88%) parents/caregivers would repeat the treatment. CONCLUSIONS: BOTOX-A seems to be an effective minimal invasive treatment for drooling with few complications. After 6months the need for re-injection becomes substantial but it may not be necessary for several months. Further studies are needed to establish the most effective dosage and frequency of injections. LEVEL OF EVIDENCE: IV.

Bilateral Congenital Agenesis of the Long Head of the Biceps Tendon: The Beginning.

The biceps brachii muscle is prone to variants but absence of the long head of the biceps (LHB) tendon is an exceptionally rare anomaly. This report concerns the fourth case of bilateral congenital absence of the LHB tendon and presents the ultrasonography (US) and magnetic resonance (MR) findings. Our case has the peculiarity of being the first in which bilateral LHB tendon agenesis is not associated with rotator cuff or labral tears.

Ring-shaped lateral meniscus with hypoplasic anterior cruciate ligament.

Knee joint lesions can be solitary or occur concomitantly with other lower limb abnormalities. Ring-shaped lateral meniscus (RSM) and hypoplasic anterior cruciate ligament (ACL) are two rare malformations. The therapeutic management of such abnormalities is not consensual, and highly depends on clinical symptomatology. We report a case of a 25-year-old girl with progressive knee pain whose MRI demonstrated a continuous segment of lateral meniscus situated along the medial aspect of the lateral compartment, continuous with the otherwise normal-appearing lateral meniscus, compatible with an RSM. This anatomic variant can be mistaken by a displaced meniscal fragment, like a bucket-handle tear, a central tear of a discoid meniscus, or incomplete discoid meniscus, as previously reported. Her MRI examination also showed a thinned ACL with anomalous lateral course. This abnormality may be mistaken for an ACL rupture and/or a meniscofemoral ligament with agenesis of ACL. Multiple images in different planes as well as following the course of meniscal and ligaments are critical clues to avoid misdiagnosis. As a result, the diagnosis of an RSM along with hypoplasic ACL with abnormal attachment was assumed based on MRI and confirmed during arthroscopy. The patient was treated conservatively with clinical outcome improvement.

Lisfranc joint ligamentous complex: MRI with anatomic correlation in cadavers.

OBJECTIVE: The aim of our study was to clarify the ligamentous anatomy of the Lisfranc joint complex and show the diagnostic capability of MRI in the assessment of the Lisfranc joint complex with detailed anatomic correlation in cadavers. MATERIALS AND METHODS: Ten fresh cadaveric feet were studied with high-spatial-resolution MRI before and after the intraarticular injection of a gadopentetate dimeglumine solution. MR images were evaluated by two readers in consensus, with emphasis on the visibility of the ligamentous structures and their appearance. Readers also measured the dimensions (length, width, and thickness) of the Lisfranc ligament and of the first plantar tarsometatarsal ligament, or plantar Lisfranc ligament. For anatomic analysis, nine cadaveric specimens were sectioned in 3-mm-thick slices in the same planes used during MRI. One additional foot specimen was used for dissection. RESULTS: In all 10 cadaveric specimens we were able to identify and characterize with MRI the different ligamentous elements that contribute to the overall stability of the Lisfranc joint complex. CONCLUSION: By clearly defining the normal ligaments that contribute to the stability of the Lisfranc joint, MRI allows a more precise and correct diagnosis of the origin of the Lisfranc joint instability, perhaps permitting a more specific surgical management. MRI also allows a better understanding of the normal imaging anatomy of the different ligamentous components of the Lisfranc joint, mainly of the Lisfranc and plantar Lisfranc ligaments.

Epiploic appendagitis: an entity frequently unknown to clinicians--diagnostic imaging, pitfalls, and look-alikes.

OBJECTIVE: Epiploic appendagitis is an ischemic infarction of an epiploic appendage caused by torsion or spontaneous thrombosis of the epiploic appendage central draining vein. When it occurs on the right side of the abdomen, it can mimic appendicitis and right-sided diverticulitis; whereas when it occurs on the left side of the abdomen, it is often mistaken for sigmoid diverticulitis. The purpose of this article is to review the diagnostic imaging of this entity. CONCLUSION: Epiploic appendagitis is self-limited and spontaneously resolves without surgery within 5-7 days. Therefore, it is imperative for radiologists to be familiar with this entity.

Ligaments of the transverse tarsal joint complex: MRI-anatomic correlation in cadavers.

OBJECTIVE: The objective of our study was to clarify the detailed anatomy of the transverse tarsal joint ligamentous complex and evaluate the diagnostic capability of MRI in the assessment of the tarsal joint complex with detailed anatomic correlation in cadavers. MATERIALS AND METHODS: Ten fresh cadaveric feet were studied with high-spatial-resolution MRI before and after intraarticular injection of a gadopentetate dimeglumine solution. MR images were evaluated by two readers, with an emphasis on the visibility of ligamentous structures and their appearance and signal intensity. Readers also measured the dimensions (length, width, and thickness) of the different components of the spring ligament complex, bifurcate ligament, and plantar calcaneocuboid ligaments. For anatomic analysis, nine cadaveric specimens were sectioned in 3-mm-thick slices in the same planes used for MRI. One additional foot specimen was used for dissection. RESULTS: In all 10 cadaveric specimens, we were able to identify the various ligamentous elements, their different configurations, imaging characteristics, and contributions to the overall stability of the transverse tarsal joint complex. CONCLUSION: By clearly defining the normal ligaments that contribute to the stability of the calcaneocuboid joint, MRI allows a more precise and correct diagnosis of the etiology of the calcaneocuboid instability, perhaps permitting a more specific surgical management. MRI also allows a better understanding of the normal imaging anatomy of the different components of the ligamentous structures of the talocalcaneonavicular joint, particularly of the spring ligament complex.

Anatomical features of plantar aponeurosis: cadaveric study using ultrasonography and magnetic resonance imaging.

OBJECTIVE: Abnormalities of the plantar aponeurosis are commonly encountered in patients with subcalcaneal heel pain. Understanding normal anatomy is required to accurately diagnose some disorders of the foot. The purpose of our study was to describe the normal anatomy of the plantar aponeurosis, using ultrasonography and MRI with close anatomic correlation in cadavers. MATERIALS AND METHODS: After MRI and ultrasonography of 10 cadaveric foot specimens, the thickness of the central and lateral portions of the plantar aponeurosis displayed by imaging studies was measured by three radiologists. One specimen was sectioned in the transverse plane, one in the coronal plane, one in the sagittal plane, and two in a sagittal oblique plane. Normal anatomy was identified and similar measurements of the plantar aponeurosis were also made. An average value was determined and a statistical analysis was accomplished. RESULTS: The calcaneal insertions of the plantar aponeurosis were better visualized than its distal portions with both MRI and ultrasonography. The measurements of the plantar aponeurosis made by three different radiologists were different, but without statistical significance. The average measurements for the central and lateral portions of the plantar aponeurosis with both imaging methods were different from each other because of differences in the morphology of these structures. The values obtained with ultrasonography and MRI, were also different from each other for both the central and lateral portions of the plantar aponeurosis, but with no statistical significance. CONCLUSIONS: We have described the detailed anatomy of the plantar aponeurosis with emphasis on the more distal structures that can be visualized with MRI. There was no statistically significant difference between the accuracy of ultrasonography and MRI regarding the measurements of the thickness of the central and lateral portions of the plantar aponeurosis. Knowledge of the normal anatomy of these structures enables the radiologist to identify early alterations, providing timely diagnosis and treatment.