Shear Wave Elastography in Patients with Spinal Muscular Atrophy Types 2 and 3.

INTRODUCTION: This study aimed to investigate selective muscle involvement by shear wave elastography (SWE) in patients with spinal muscular atrophy (SMA) types 2 and 3 and to compare SWE values with magnetic resonance imaging (MRI) in demonstrating muscle involvement. METHODS: Seventeen patients with SMA types 2 and3 were included in the study. SWE was used to evaluate stiffness of the upper and lower extremities and paraspinal muscles. Involvement of the paraspinal muscles was evaluated using 1.5-T MRI. RESULTS: Among the upper extremity muscles, SWE values were the highest for the triceps brachii; however, no significant difference was noted (p = 0.23). In post hoc analysis, a significant difference was observed between triceps brachii and biceps brachii (p = 0.003). Patients with a longer disease duration have the highest SWE values for the triceps brachii (r = 0.67, p = 0.003). Among the lower extremity muscles, SWE values for the iliopsoas were significantly higher than the gluteus maximus (p < 0.001). A positive correlation was found between SWE values and MRI scores of paraspinal muscles (r = 0.49, p = 0.045; r = 0.67, p = 0.003). CONCLUSION: This is the first study to report muscle involvement assessed by SWE in patients with SMA types 2 and 3. Our findings are similar to the presence of selective muscle involvement demonstrated in previous studies, and also SWE and MRI values were similar. SWE is an alternative noninvasive practical method that can be used to demonstrate muscle involvement in patients with SMA, to understand the pathogenesis of segmental involvement, and to guide future treatments or to monitor the effectiveness of existing new treatment options.

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

Loss or decrease of function in runt-related transcription factor 2 encoded by RUNX2 is known to cause a rare autosomal-dominant skeletal disorder, cleidocranial dysplasia (CCD). Clinical spectrum and genetic findings in 51 CCD patients from 30 unrelated families are herein presented. In a majority of the patients, facial abnormalities, such as delayed fontanel closure (89%), parietal and frontal bossing (80%), metopic groove (77%), midface hypoplasia (94%), and abnormal mobility of shoulders (90%), were recorded following clinical examination. In approximately one-half of the subjects, wormian bone (51%), short stature (43%), bell-shaped thorax (42%), wide pubic symphysis (50%), hypoplastic iliac wing (59%), and chef's hat sign (44%) presented in available radiological examinations. Scoliosis was identified in 28% of the patients. Investigation of RUNX2 revealed small sequence alterations in 90% and gross deletions in 10% of the patients; collectively, 23 variants including 11 novel changes (c.29_30insT, c.203delAinsCG, c.423 + 2delT, c.443_454delTACCAGATGGGAinsG, c.505C > T, c.594_595delCTinsG, c.636_637insC, c.685 + 5G > A, c.1088G > T, c.1281delC, Exon 6-9 deletion) presented high allelic heterogeneity. Novel c.29_30insT is unique in affecting the P1-driven long isoform of RUNX2, which is expected to disrupt the N-terminal region of RUNX2; this was shown in two unrelated phenotypically discordant patients. The clinical findings highlighted mild intra-familial genotype-phenotype correlation in our CCD cohort.

Mixed Langerhans Cell Histiocytosis and Erdheim-Chester Disease in a Girl: A Rare and Puzzling Diagnosis.

OBJECTIVE: The objective of this study was to report the case of a girl diagnosed as suffering from multisystem, BRAF V600E-positive refractory Langerhans cell histiocytosis (LCH) and coexistent Erdheim-Chester disease (ECD) with perirenal, intracranial involvement and the dramatic response to clofarabine treatment. OBSERVATIONS: Histiocytoses are rare diseases with a broad clinical spectrum. Recent evidence supports a molecular and clinical overlap between LCH and ECD, and mixed LCH/ECD is now a separate entity. However, only a few pediatric cases of mixed disease have been reported in the literature. CONCLUSIONS: In a child with refractory, multisystem histiocytosis and atypical presentations, mixed LCH/ECD should be suspected in the differential diagnosis.

Congenital Factor XIII Deficiency With the Presence of Inhibitor: A Case Study.

Coagulation factor XIII (FXIII) is a fibrin-stabilizing factor with additional roles in wound healing and interactions between the decidua and fetus. Congenital FXIII deficiency is rare bleeding disorder. Inhibitor development against FXIII in inherited FXIII deficency is also uncommon, but may cause severe, life-threatening bleeding. FXIII is the last step in the coagulation cascade with normal coagulation paramaters (PT, aPTT), the detection of inhibitor to FXIII is quite difficult. The treatment of inhibitor-positive congenital FXIII deficiency is challenging due to the lack of a role of by-pass agents such as FVII. The best known ways of treatment in these cases are the use of high-dose FXIII concentrates and immunosuppression. Herein, we report the management of postoperative bleeding diathesis in a patient with FXIII deficiency who developed inhibitors, and to follow the clinical course of the disease with FXIII concentrate and immunosuppression.

Foreign Body Reaction Due to a Forgotten Rubber Band on the Neck of a Toddler Girl.

ABSTRACT: In the presence of an unhealed granulation tissue-like wound, a possibility of abuse and neglect along with a foreign body should come to mind. However, it may be difficult to recognize a foreign body in patients with atypical clinical presentations. We demonstrated delayed diagnosis of a rubber band embedded into subcutaneous tissue in a 2½-year-old girl who presented with a circumferential scar with 2 granulation tissue-like wounds on her neck due to a foreign body reaction developed over years. With this rare case presentation, we remind the possibility of abuse/neglect along with foreign bodies in neck lesions of children.

Superb Microvascular Imaging in the Evaluation of Pediatric Graves Disease and Hashimoto Thyroiditis.

OBJECTIVES: We aimed to investigate the differences between spectral Doppler and Superb Microvascular Imaging (SMI; Canon Medical Systems, Tokyo, Japan) findings in children with Hashimoto thyroiditis (HT) and Graves disease (GD) compared to healthy control participants. METHODS: The study included 34 patients with GD, 37 patients with HT, and 22 healthy volunteers. All patients with HT and 11 patients with GD were euthyroid; 23 patients with GD had symptoms of hyperthyroidism and had thyrotropin values of less than 0.5 mIU/L. Thyroid volumes, mean resistive indices, and peak systolic velocities along with vascularity indices (VIs) on Superb Microvascular Imaging were measured. RESULTS: Patients with GD had a significantly higher mean thyroid volume (P < .001; right lobe, 11.80 mL; left lobe, 9.10 mL) and peak systolic velocity (right, 32.5 cm/s; left, 30 cm/s) with a lower resistive index (right, 0.48%; left, 0.48%) compared to patients with HT (right, 8.78 mL, 20 cm/s, 0.55%; left, 7.41 mL, 20 cm/s, 0.55%, respectively) and also control participants (right, 4.59 mL, 15 cm/s, 0.56%; left, 3.52 mL, 15 cm/s, 0.54%). Patients with GD had a significantly higher median VI (right, 25%; left, 26%) compared to patients with HT (right, 11%; left, 13%) and control participants (right, 8%; left, 8%). When patients with GD were categorized as euthyroid and hyperthyroid based on thyrotropin levels and clinical symptoms, both euthyroid and hyperthyroid patients with GD had significantly higher thyroid volumes compared to patients with HT (P < .001). Hyperthyroid patients with GD had higher thyroid volumes compared to euthyroid patients with GD; however, the difference failed to reach statistical significance. A significant strong positive correlation with the VI and thyrotropin receptor autoantibody levels (r = 0.696) was found. The highest area under the curve was obtained for the right lobe VI (0.885), followed by the left lobe VI (0.872), right lobe volume (0.828), and peak systolic velocity (0.810). The optimal cutoff VI value for distinguishing between HT and GD was 17.35% with sensitivity, specificity, and diagnostic accuracy of 85.3%, 78.4%, and 81.7%, respectively. CONCLUSIONS: Superb Microvascular Imaging is a new method that can detect subtle vascularity changes with higher accuracy compared to spectral Doppler parameters in distinguishing between HT and GD.

Pituitary Iron Deposition and Endocrine Complications in Patients with ß-Thalassemia: From Childhood to Adulthood.

The endocrinological complications are a great concern in transfusion-dependent ß-thalassemia (ß-thal) patients. The pituitary iron deposition is regarded as the main cause of hormonal changes in thalassemic patients. In this study, our aim was to explore the association between endocrinological complications and pituitary iron overload by magnetic resonance imaging (MRI). Fifty transfusion-dependent thalassemia (TDT) patients were recruited for the study. Pituitary MRIs of patients were taken using a 1.5 Tesla Philips MRI machine. There was at least one clinical endocrine complication in two of three patients. The iron accumulation was moderate in the liver (60.0%) and was mild in hypophysis (16.0%) and in heart (8.0%). The hypogonadism and diabetes mellitus (DM) were not seen with a significantly increased pituitary iron burden. The hypogonadism was related to cardiac iron deposition (p = 0.04). The short stature was associated with a hepatic iron overload (p = 0.05). The conventional follow-up of patients with TDT might be inadequate and screening of patients with MRI of hypophysis along with heart and liver leads to better results.

Severe Multisystem Involvement of Chronic Granulomatous Disease in a Pediatric Patient.

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder identified by recurrent pyogenic and fungal infections infections secondary to defective nicotinamide adenine dinucleotide phosphate oxidase enzyme. In the present study, we demonstrated a case with a history of multiple segmental lung resections because of invasive bronchopulmonary aspergillosis, multifocal hepatic and splenic granulomas, bilateral adnexal calcific foci presumed to be related with old granulomatous infection and finally gastric outlet obstruction secondary to the involvement of the stomach wall thickening with granulomatous tissue. This is an extremely severe case of CGD with multiorgan involvement within a 10-year period after the diagnosis. Gastric antral involvement may mimic inflammatory bowel diseases in such cases, and intestinal involvement can reliably be demonstrated via ultrasonography. Spontaneous resolution of the antral involvement was observed in the follow-up.

Comparative evaluation of liver, spleen, and kidney stiffness in HIV-monoinfected pediatric patients via shear wave elastography

Background/aim: This study aimed to evaluate the stiffness of the liver, spleen, and kidneys in HIV-monoinfected children via shear wave elastography (SWE). Materials and methods: Twenty-one HIV-monoinfected children and 37 healthy subjects were included in this study. Livers, spleens, and kidneys of the participants were examined via ultrasound and SWE. Patients were divided into two groups according to the presence of pathologic ultrasonographic findings. Routine laboratory tests were also recorded. Stiffness of these organs was compared between patients and control groups. Results: Liver transaminases, blood urea, and creatinine levels were normal in all subjects. Ultrasonographic examination revealed hepatosplenomegaly (n = 1, 4.7%), grade 1 hepatosteatosis (n = 1, 4.7%), and hepatosteatosis and minimal heterogeneity of the liver (n = 1, 4.7%). Ultrasonographic features were normal in 18 patients. Stiffness of the liver, spleen, and kidneys of all HIV-monoinfected children with normal laboratory parameters was significantly higher than in healthy subjects. Eighteen patients with normal ultrasonographic findings also had higher stiffness values when compared to control subjects. Conclusion: Stiffness of the liver, spleen, and kidneys in HIV-monoinfected children was increased. SWE can be used in the detection of early parenchymal changes even in patients with normal laboratory parameters and ultrasonographic findings.

Simultaneous Presentation of Wilms' Tumor and Contralateral Ganglioneuroma in a Child: Case Report and Literature Review.

We demonstrate a 4-year-old girl who presented with progressive, asymmetrical, firm abdominal distention and was diagnosed with synchronous Wilms' tumor and left para-aortic ganglioneuroma (GN). Although synchronous tumors in the pediatric population are commonly associated with malignancy-predisposing syndromes, the patient in question was found to be otherwise healthy and had no clinical evidence nor family history of a syndrome. This case is the second one in the literature diagnosed with synchronous presentation of Wilms' tumor and GN in a previously healthy child. In addition, a GN foci presumed to be a previous metastasis of a neurogenic tumor that subsequently matured to GN was depicted within a left para-aortic lymph node. We aimed to emphasize an extremely rare synchronous occurrence of these embryonal tumors, increase the awareness of physicians, and discuss the radiologic differential diagnosis and management.

Evaluation of parotid glands in healthy children and adolescents using shear wave elastography and superb microvascular imaging.

OBJECTIVES: We aim to determine parotid gland elasticity values from healthy children and adolescents using shear wave elastography (SWE). We also define the degree of vascularity using superb microvascular imaging (SMI), power Doppler (PD), and color Doppler (CD) and compare SMI with CD and PD. MATERIALS AND METHODS: A total of 100 cases, comprising 50 girls and 50 boys, with ages ranging from 3 to 17 years were included in this prospective study. SWE, SMI, PD, and CD measurements were taken from both parotid glands, and the relationships with sex, age, and body mass index (BMI) were determined. The SMI was compared with the PD and CD. RESULTS: The median elasticity values measured with SWE were 8.37 ± 2.09 kPa and 1.68 ± 0.26 m/s on the right and 8.33 ± 2.04 kPa and 1.69 ± 0.26 m/s on the left. There were significant positive correlations present for those aged below and above 10 years and for BMI with elasticity values. The median vascular spot numbers measured using SMI, PD, and CD were 5 ± 1.70, 3.5 ± 1.45, and 2 ± 1.1 on the right and 4 ± 1.7, 4 ± 1.43, and 2 ± 1.05 on the left, respectively. The median values obtained with SMI were significantly higher than the median values obtained with both PD and CD. CONCLUSION: This study determined the reference SWE, SMI, PD, and CD values for normal parotid glands in healthy children and adolescents. Elasticity values were affected by age and BMI. There was no correlation between vascularity values and age, sex, or BMI. SMI provided more detailed information about vascularity compared with the other methods.

Magnetic resonance imaging during management of patients with transfusion-dependent thalassemia: a single-center experience.

BACKGROUND: Cardiac and hepatic magnetic resonance imaging evaluation during treatment can tailor physicians' chelation therapy titrations. AIM: The aim of the study was to assess the relationship of cardiac and hepatic T2* values with chelation therapy in patients with transfusion-dependent thalassemia (TDT). METHODS: A total of 106 patients with TDT who were followed up in Istanbul Medical Faculty Thalassemia Center were evaluated for the study. Forty-eight (45%) patients with TDT had more than one consecutive MRI examination. The patients were divided into three subgroups according to the cardiac T2* values as the high-risk group (T2* MRI < 10 ms), medium-risk group (T2* MRI 10-20 ms), and the low-risk group (T2* MRI > 20 ms). RESULTS: The majority of patients used DFX (deferasirox) (79%) and deferiprone (DFP) (17%). Approximately 80% of patients according to cardiac T2* value and 40% of patients according to hepatic T2* value were initially in the low-risk group. Patients with follow-up MRI examinations exhibited significant improvement in liver iron concentration, which correlated with an increase in hepatic T2* values. The decrease of liver iron concentration was prominent in the DFX group (p < 0.01). The serum ferritin level was significantly correlated with liver iron concentrations (rs = 0.65, p < 0.001), hepatic T2* value (rs = - 0.62, p < 0.001), but not with cardiac T2* value (rs = - 0.20, p = 0.07). CONCLUSION: Cardiovascular and hepatic MRI is a useful follow-up tool during the assessment of risk groups and chelation therapy of patients with TDT. Consecutive MRI tests showed good monitoring of cardiac and liver iron overload.

A confounding rib variation: bilateral symmetric aberrant posterior rib articulations and bridgings.

INTRODUCTION: Although mild bone angulation with osseous enlargement often suggests fractures with callus formation, in some cases the diagnosis is synchondrosis. CASE REPORT: We present a rare variation of the chest wall in a 15-year-old male with a history of lymphoma. Bilateral multi-level posterior rib enlargements revealing mild 18F-fluorodeoxyglucose uptake were detected via positron-emission tomography/computed tomography. The variations were identified as healing fractures, although the more accurate diagnosis was determined to be multi-level posterior rib synchondroses with consecutive bridgings. Although variant bone anatomies are commonly seen in radiological practice, such multiple symmetrical posterior rib synchondroses associated with consecutive bridgings and articulations have not been clearly demonstrated before. CONCLUSION: Awareness of such a rare combination of a well-known variation is crucial for radiologists to exclude malignancies, possibility of fracture and suspicion of child abuse.

Delayed diagnosis of an intraorbital wooden foreign body.

A 35-year-old male patient was presented with pain on his right upper eyelid. A piece of wood injured his orbital and supraorbital regions while working at a furniture factory 10 days prior to our hospital admission. It was learned that the patient was discharged following the primary would closure procedure. Subsequent to the craniofacial computed tomography, primary wound closure was performed in the emergency room of previous hospital. In our clinic, a skin suturing on the nasal side of the right eyebrow was inspected and a foreign body (FB) was palpated on the superonasal contiguity of the patients' right globe. A hyperdense FB measuring 30 × 10 × 5 mm in size with smooth margins on superonasal contour of the globe was detected. Superonasal orbitotomy was performed and the FB was completely removed. Finally, visual acuity was 20/20 and a mild residual ptosis was observed.

[Management and treatment difficulties of multi-drug resistant pulmonary tuberculosis in a pediatric case]. / Çok ilaca direçli akciger tüberkülozu olan çocuk olguda tani ve tedavi yaklasiminda yasanan güçlükler.

Tuberculosis continues to be a major health problem worldwide. Multidrug resistant tuberculosis (MDR-TB) infection that occurs in childhood is caused by adult MDR-TB agents which are in circulation and resistant to primary drugs. In this case report a 17-month-old child with MDR-TB who was cured after a 24-month therapy regimen was presented. Physical examination of a 17-month-old girl admitted to the hospital with the cause of recurrent pneumonia revealed a rubbery lymphadenopathy less than 2 cm in the right upper cervical region. Crepitant rales were detected in the right basal on auscultation of the lung. Interferon gamma release assay (IGRA) and tuberculin skin (TST) tests were negative. Computed tomography (CT) scan of the chest showed mediastinal conglomerate pathologic lymphadenopathy and air bronchograms were detected near the lower lobe of the left lung. Treatment of isoniazid, rifampicin, pyrazinamide with the diagnosis of epituberculosis was started by taking a sample of gastric aspirate culture sample. In the sixth month of the treatment patient was admitted to our clinic with enlarged cervical rubbery lymphadenopathy. It was determined that microbiological test of gastric aspirate culture specimen was positive for M.tuberculosis complex resistant to isoniazid, rifampin, ethambutol, streptomycin, ethionamide and rifabutin. Control CT showed residual peribronchial infiltrations and hilar calcific lymph nodes. Hearing test, vision control and, thyroid function tests were performed and treatment of moxifloxacin, amikacin, para-amino salicylic acid, protionamide and pyrazinamide was started based on minor drug susceptibility results of M.tuberculosis isolate which was still growing in gastric aspirate culture. Gastric aspirate culture for M.tuberculosis was still positive after 3 months of treatment and the current treatment was continued. Amikacin was stopped after 6 months. Therapy regimen was stopped after 24-months. Over the course of a follow-up period of more than 3 years, the clinical and radiological resultsof the patient has improved significantly. The clinical presentation of TB in children is often nonspecific and differs from the patterns seen in adults. MDR-TB cases can be seen in this age group since tuberculosis in children is mainly caused by transmission of drug-resistant strains from adults. This situation is particularly problematic due to the long-term treatment and the lack of specific drug formulations for children.

Trichobezoar presenting as an acute abdominal obstruction in a 17-year-old girl.

Trichobezoars are hairballs that combine with food residue in the digestive tract as a result of ingesting hair. A 17-year-old girl was admitted to the emergency department with abdominal pain and vomiting for 3 days. She had been having digestive difficulty and bloating for the previous 2 months. An abdominal radiograph demonstrated air-fluid levels consistent with ileus, and an ultrasound showed hyperechoic material in the stomach and ileum. Computed tomography demonstrated images of trapped air which was considered diagnostic of a bezoar. At laparotomy, a large mass was removed from the stomach. As the bezoar extended through the pylorus and duodenum and there were mobile masses palpable in the ileum, it required a second incision to remove them. For some years she had had a habit of swallowing hair which she found on her pillow and there was a history of an obsessive personality trait and hyperactivity for which she agreed to attend a psychiatric clinic.Abbreviations: BMI: body mass index; CT: computed tomography; Hb: haemoglobin; IV: intravenous; WHO: World Health Organization.