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Background Juvenile idiopathic inflammatory myopathies (JIIMs) are a group of heterogenous, acquired, autoimmune disorders that affect the muscle. While the association between IIMs and malignancy has been widely reported in adults, cancer-associated myositis (CAM) is rare in children, so that routine malignancy screening is not generally performed. This report shows a case of severe CAM in a child. Case presentation An 11-years-old girl presented with worsening dyspnea after a 3-weeks history of progressive proximal weakness, myalgia, dysphagia, and weight loss. Her past history was remarkable for a type I Arnold-Chiari malformation associated with an anterior sacral meningocele. Physical examination showed severe hypotony and hypotrophy. Pulse oximetry and blood test showed a type II respiratory failure (SpO2 88%, pCO2 68 mmHg) and increased muscle enzyme levels (CPK 8479 U/L, AST 715 U/L, ALT 383 U/L, LDH 1795 U/L). The patient needed invasive mechanical ventilation. Inflammatory myositis was considered and treatment with intravenous methylprednisolone (30 mg/Kg/day for 3 days followed by 2 mg/Kg/day) and IVIG (1 g/kg/day for 2 days) was started. Muscle biopsy showed endomysial and perimysial necrosis and inflammation. The presence of serum anti-TIF1-γ antibody positivity led to a malignancy screening. Whole-body MRI showed a mature teratoma underneath sacral meningocele and both lesions were surgically removed. Given the histological and clinical severity of the myopathy, mycophenolate (500 mg twice a day) and rituximab (360 mg/m2, 4 weekly infusions) were added. Due to extreme muscular wasting, severe malnutrition and intolerance to enteral feeding the patient needed a transient tracheostomy and parenteral nutrition, followed by physiotherapy, speech therapy and nocturnal non-invasive ventilation. A complete remission was achieved 3 months after. Conclusions Among cancer-associated autoantibodies (CAAs) in adult patients, anti-TIF1-γ carries the highest risk of CAM, which recognizes with a high likelihood a paraneoplastic pathogenesis. In children, anti-TIF1-γ antibody has been associated with severe cutaneous disease, lipodystrophy, and chronic disease course, but not with CAM, which is overall rare in younger patients. Severe onset of a JIIM, especially if anti-TIF1-γ antibody positive, should prompt suspect of a CAM and lead to a screening for malignancy.

Intestinal malrotation includes anomalies of intestinal rotation and fixation occurred during embryogenesis. It may present with acute or chronic-intermittent symptoms or remain asymptomatic. There are several methods to identify a defect of intestinal rotation, however an upper gastrointestinal series remains the method of choice in non-acute cases. Surgical correction is performed by open laparotomy, while the laparoscopic approach is reserved only to selected cases. This article suggests an evaluation of children with suspected intestinal malrotation and gives information about its management and complications to paediatricians.

Ileo-colic intussusception is a major cause of intestinal obstruction in early childhood. Diagnosis of this condition might be hampered by variability in clinical presentation. Indeed, the so-called “classic” symptoms, namely abdominal pain, red currant jelly stool, vomiting and palpable mass, may not be present. Nevertheless, prompt diagnosis and treatment are critical to prevent bowel perforation or necrosis and peritonitis. Pneumatic reduction of intussusception with an air enema is the usual treatment. The aim of this study is to highlight the main clinical features of ileo-colic intussusception and its management.

Twin obstructive megaureters associated with duplex renal system is a rare malformation, particularly when a giant ureter dilation is present. We report an original case, initially misinterpreted, of a right incomplete duplex renal system with huge disproportion between the upper pole giant megaureter and the lower pole moderate megaureter, with severe obstruction at the uretero-ureteral junction and minor obstruction at the uretero-vesical junction. Uromagnetic resonance imaging allowed conclusive diagnosis and the laparoscopic approach was effective for definitive, successful treatment.

Complex regional pain syndrome of the foot in a girl with post-SARS-CoV-2 chilblains

Patients with Crohn's disease (CD) usually undergo magnetic resonance enterography (MRE) for evaluating small bowel involvement. Musculoskeletal symptoms are the most frequent extraintestinal manifestation in inflammatory bowel diseases, especially in CD, with sacroiliitis at imaging occurring in about 6-46% of patients and possibly correlating with axial spondyloarthritis. The primary study aim was to assess the prevalence of sacroiliitis in adult and pediatric patients with CD performing an MRE. We also evaluated the inter-rater agreement for MRE sacroiliitis and the association between sacroiliitis and patients' clinical data.We retrospectively identified 100 adult and 30 pediatric patients diagnosed with CD who performed an MRE between December 2012 and May 2020 in three inflammatory bowel disease centers. Two radiologists assessed the prevalence of sacroiliitis at MRE. We evaluated the inter-rater agreement for sacroiliitis with Cohen's kappa and intraclass correlation coefficient statistics and assessed the correlation between sacroiliitis and demographic, clinical, and endoscopic data (Chi-square and Fisher's tests).The prevalence of sacroiliitis at MRE was 20% in adults and 6.7% in pediatric patients. The inter-rater agreement for sacroiliitis was substantial (k = 0.62, p 0.001) in the adults and moderate (k = 0.46, p = 0.011) in the pediatric cohort. Age ≥ 50 years and the time between CD diagnosis and MRE (≥ 86.5 months) were significantly associated with sacroiliitis in adult patients (p = 0.049 and p = 0.038, respectively).Sacroiliitis is a frequent and reliable abnormality at MRE in adult patients with CD, associated with the age of the patients ≥ 50 years and CD duration.

Biallelic mutations in the TTC5 gene have been associated with autosomal recessive intellectual disability (ARID) and subsequently with an ID syndrome including severe speech impairment, cerebral atrophy, and hypotonia as clinical cornerstones. A TTC5 role in IDs has been proposed based on the physical interaction of TTC5 with p300, and possibly reducing p300 co-activator complex activity, similarly to what was observed in Menke-Hennekam 1 and 2 patients (MKHK1 and 2) carrying, respectively, mutations in exon 30 and 31 of CREBBP and EP300, which code for the TTC5-binding region. Recently, TTC5-related brain malformation has been linked to tubulinopathies due to the function of TTC5 in tubulins' dynamics. We reported seven new patients with novel or recurrent TTC5 variants. The deep characterization of the molecular and phenotypic spectrum confirmed TTC5-related disorder as a recognizable, very severe neurodevelopmental syndrome. In addition, other relevant clinical aspects, including a severe pre- and postnatal growth retardation, cryptorchidism, and epilepsy, have emerged from the reversal phenotype approach and the review of already published TTC5 cases. Microcephaly and facial dysmorphism resulted in being less variable than that documented before. The TTC5 clinical features have been compared with MKHK1 published cases in the hypothesis that clinical overlap in some characteristics of the two conditions was related to the common p300 molecular pathway.

Altered state of consciousness in infants can be the sole sign of a compromised intestinal blood flow. The article reports the case of an infant with inconsolable crying and lethargy with an omphalomesenteric duct remnant causing small bowel volvulus.

The aim of our study is to share a single pediatric institution’s experience with complicated Meckel’s diverticulum. The clinical records of a series of 15 cases treated between January 2006 and December 2020 were reviewed. Patients were divided according to the presenting symptoms (obstructive versus painful bleeding) and subcategorised according to demographic details, intraoperative findings, surgical technique, histological examination and length of stay. Patients older than 17 years of age were excluded from the study. Males were more prone to present with complicated Meckel’s diverticulum than females, and obstructive symptoms were the most frequent presentation (60%). Median age at presentation was 9 years. The surgical technique of choice was an explorative laparoscopy in 12 cases, even though 25% of patients required conversion to laparotomy. There was no statistically significant difference between groups in terms of length of stay. Results are discussed with reference to current literature.

Non-parasitic splenic cysts are an uncommon finding in pediatric patients. We report on a 14-year-old male presenting with a giant abdominal mass. Imaging documented a giant splenic cyst, and preoperative blood tests revealed high levels of CA125. Minimally invasive unroofing of the cyst was performed. Notably, the cyst content was hematic, but histopathological studies described a mesothelial cyst lining. To date, no recurrence has been noted. Laparoscopic spleen-preserving surgery appears to be a valid and safe treatment option in children with complex non-parasitic splenic cyst to preserve the splenic parenchyma.

Herein, we report our experience with an adolescent girl presenting with persistent fever, abdominal pain, and elevated levels of inflammatory blood markers. A huge pelvic collection was found at imaging studies. Occult source of infection in patients with prolonged fever and elevated levels of inflammatory blood markers must always be suspected, and in complicated cases a surgical exploration may be required.

Hearing loss (HL), both syndromic (SHL) and non-syndromic (NSHL), is the most common sensory disorder, affecting ~460 million people worldwide. More than 50% of the congenital/childhood cases are attributable to genetic causes, highlighting the importance of genetic testing in this class of disorders. Here we applied a multi-step strategy for the molecular diagnosis of HL in 125 patients, which included: (1) an accurate clinical evaluation, (2) the analysis of GJB2, GJB6, and MT-RNR1 genes, (3) the evaluation STRC-CATSPER2 and OTOA deletions via Multiplex Ligation Probe Amplification (MLPA), (4) Whole Exome Sequencing (WES) in patients negative to steps 2 and 3. Our approach led to the characterization of 50% of the NSHL cases, confirming both the relevant role of the GJB2 (20% of cases) and STRC deletions (6% of cases), and the high genetic heterogeneity of NSHL. Moreover, due to the genetic findings, 4% of apparent NSHL patients have been re-diagnosed as SHL. Finally, WES characterized 86% of SHL patients, supporting the role of already know disease-genes. Overall, our approach proved to be efficient in identifying the molecular cause of HL, providing essential information for the patients&rsquo, future management.

Background: Plexiform neurofibromas (PN) are congenital tumors that affect up to 50% of individuals with neurofibromatosis type 1. Despite their benign nature, they can grow rapidly and cause severe morbidities. Selumetinib, an inhibitor of mitogen-activated protein kinase (MEK) 1 and 2, was reported to induce a clinical response in pediatric subjects with inoperable PN. Objective: The aim of this paper is to describe a prospective case series of patients treated with selumetinib with emphasis on drug adverse events. Patients and methods: All the subjects who received selumetinib at the Pediatric Department of Scientific Research Institute and Hospital “Burlo Garofolo”, from November 2017 to January 2020, were progressively included. We monitored the patients with a follow-up visit every 3 months. MRI or CT scans to monitor the growth of the tumor were performed after 3 months of treatment, and then every 6–9 months. Results: Selumetinib was prescribed to nine children, with a total of 17 inoperable PN. The mean follow-up period was 12 months. During the follow-up, one patient experienced an ischemic stroke, unrelated to the treatment. Only minor adverse events were observed: six individuals developed gastrointestinal side effects, seven patients presented a mild form of acne, six had paronychia, four developed irritability, and two showed a mild increase in creatine kinase. None of the patients stopped the treatment. Tumor reduction > 20% was recorded in 16 out of 17 PN (94%). One PN remained stable. No tumor growth was recorded during the treatment. Conclusions: In this case series, selumetinib appears to be effective and safe for the pediatric population.

A 12-year-old boy presented with a 1-year history of painful swelling of the left ankle.

Hearing loss, both in its syndromic and non-syndromic forms, is the most common sensory disorder, with more than 460 million people affected worldwide. It has been shown that at least 50% of the congenital or childhood hearing loss cases are attributable to genetic causes, leading to the so-called hereditary hearing loss. The correct genetic counselling and molecular diagnosis of hereditary hearing loss are particularly tricky, since they are characterised by a substantial clinical and genetic heterogeneity, partly not yet discovered. In this light, the constant analysis of large cohort patients, together with data sharing between different research groups, is essential for increasing our knowledge on the clinical features of patients and their genetic background, helping in the definition of correct genotype-phenotype correlations. We describe the case of a 7-year-old child affected by apparent non-syndromic hearing loss and presenting with several asymptomatic brain abnormalities caused by mutations in the ADGRV1 gene. The identification of this additional phenotype increases the spectrum of the clinical characteristics of patients carrying pathogenic mutations in the ADGRV1 gene and, therefore, should prompt clinicians to explore the phenotype of these patients.

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A female neonate was born with asymmetric lower limbs, the right leg appearing enlarged, with thickened, reddish-purple skin and ectasic superficial reticulum (figure 1A,B). Limb pulses were present and symmetrical. The girl’s family history and prenatal scans were unremarkable. Laboratory findings were within the normal range, except for a mild thrombocytopenia (90 000/μL), which spontaneously resolved during the next few days. A leg X-ray and the Doppler analysis ruled out the presence of calcifications and venous varices, respectively. Ultrasound showed significant skin thickening, with marked dermal hypertrophy and hyperechogenicity. Magnetic resonance showed circumferential thickening of the derma, with mild hypertrophy of some perforating vessels (figure 2). A biopsy of the right thigh showed capillary malformations on histology.Figure 1(A, B) Hypertrophy of the right lower limb, with large capillary malformation extending to the gluteus and the external genitalia.Figure 2Axial THRIVE magnetic resonance scan of the thighs’ proximal third, showing circumferential dermal thickening and inhomogeneity of the right leg’s subcutaneous tissue.QuestionsBased on the clinical picture and investigations results, which is the most likely diagnosis?Beckwith-WiedemannCLOVES syndromeKlippel-Trenaunay syndromeKaposiform hemangioendotheliomaHow can the diagnosis be confirmed?CT with PETLymphoscintigraphyGenetic testingNone of the above, the diagnosis is clinicalWhat is the mainstay of management?Conservative with follow-upPharmacotherapySclerotherapySurgeryWhich of the following complications can occur?ScoliosisGlaucomaUrinary and gastrointestinal bleedingAll of the aboveAnswers can be found on page 02.

­ A 3-year-old toddler was admitted for a 5-day history of worsening painful limping on his left leg. History was remarkable only for a minor trauma 2 days before the onset of symptoms; the boy fell on his buttocks but was walking normally in the following days. No fever was reported. Pain was also present at night, with no response to oral ibuprofen. On physical examination, the patient refused to stand on his left leg, palpation of the left buttock evoked pain, and exorotation and abduction of the left hip were only moderately limited, without local signs of inflammation such as redness, swelling or skin warming. Blood tests showed elevated erythrocyte sedimentation rate (ESR) (98 mm/hour, normal value 9/L, haemoglobin was 127 g/L and PLT was 430 x 109/L. Creatine kinase values were within the normal range. An X-ray of the pelvis was unremarkable. An ultrasound of the left hip showed a 2 mm articular effusion. Questions Based on the clinical picture and laboratory tests, what is the most likely diagnosis? Perthes disease. Pyomyositis. Septic arthritis. Bone fracture. Leukaemia. What test could confirm the diagnosis? Bone scintigraphy. CT. Bone marrow aspirate. MRI. Intra-articular puncture. What is the mainstay of management of this condition? Wait and see. Surgical excision. Antibiotic course. Antineoplastic treatment. Answers can be found on page 2.

A 12-year-old girl was referred with a 7-month history of episodes of dyspnoea, stridor and a sense of chest constriction during physical exercise. These were self-limiting and never occurred at night. Physical examination was normal. An initial diagnosis of vocal cord dysfunction was made.Spirometry showed a plateau of forced expiratory flow, with a truncated aspect of the expiratory phase (figure 1). Six weeks later she described occasional dysphagia with solid foods. The barium swallow, performed only in anteroposterior projection, did not show oesophageal dilation. A bronchoscopy showed extrinsic compression of the middle lower third of the trachea and the right main bronchus. A chest CT scan was performed (figures 2 and 3).Figure 1The spirometry showed a truncated expiratory phase with a substantially decreased PEF, compared with FEV1: indicating central intrathoracic airway obstruction. FEF, forced expiratory flow; FEV1, forced expiratory volume in 1 s; FIF, forced inspiratory flow; FIV1, forced inspiratory volume in 1 s; FIVC, forced inspiratory vital capacity; FVC, forced vital capacity; PEF, peak expiratory flow; PIF, peak inspiratory flow.Figure 2Contrast enhanced CT axial section image showing right aortic arch (white arrow on the left) with aberrant subclavian artery (red arrow on the right) encircling the trachea and the oesophagus.Figure 3CT three-dimensional reconstruction arteriography posterior view showing right aortic arch (white arrow), diverticulum of Kommerell (white star) from which the left subclavian artery (red arrow) arose. D Ao, descending aorta.QuestionsWhat is your diagnosis?Persistent vocal cord dysfunctionAchalasiaVascular ringAsthmaWhat is the gold standard for diagnosis of VR?ECGChest radiographCT and/or MRIBronchoscopyHow should this patient be treated?Surgical correctionVideo-assisted thoracoscopyDecompression of the oesophagus with a nasogastric tubeInspiratory muscle training and ipratropium bromide inhalerWhat signs in the history pointed away from vocal cord dysfunction?Dysphagia with solid food was present.The episodes of dyspnoea and stridor never occurred at night.The episodes arose mainly on exertion.The episodes of dyspnoea and stridor were self-limiting.Answers can be found on page 2.

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A 16-year-old boy was admitted for a few days’ history of mild headache, moderate to severe posterior neck and dorsal back pain, nausea, vomiting many times during the day, and subjective positional vertigo. There was no night awakening for pain, neither night or on awakening vomit. He had been treated with ibuprofen without benefit. His history was unremarkable. On admission, physical and neurological examinations were unremarkable except for thoracolumbar pain during the flexion-extension of the trunk and refusal to stay in the orthostatic (the upright posture) position. Systemic blood pressure was 100/65 mm Hg. An ear, nose and throat (ENT) examination was negative. A brain and spine MRI showed cerebral dural sinus congestion, with a widespread meningeal enhancement after administration of contrast (figure 1A,B). Figure 1 (A) Sagittal postcontrast T1-weighted section. The arrow indicates the expansion of dural venous sinuses. (B) Coronal postcontrast T1-weighted image. The arrow shows the venous distension with pachymeningeal enhancement. Which is the most likely diagnosis? 1. MRI evidence associated with cerebral spinal fluid (CSF) hypotension. 2. Pseudotumour cerebri. …

A 1-year-old toddler was admitted with a 12-hour history of repeated vomiting. He had not passed stools for the past 3 days, or flatus in the last 24 hours. Physical examination showed abdominal distention without pain or guarding. An abdominal X-ray showed multiple air fluid levels with a distended small bowel (figure 1). A video-assisted laparoscopy showed dilated small bowel loops. Figure 1 Multiple air fluid levels and distended small bowel loops with no …

A 10-year-old child was referred with bilateral curving and bending of the index fingers noted from birth. His previous history included astigmatism and left knee retraction resulting in flexion deformity since he was 3 years old. Paediatricians should consider distal arthrogryposis type 5D (DA5D) in children with a family history of clino-camptodactyly and articular retraction. His physical examination revealed clubfoot hypoplasia of the index fingers, adducted thumbs and …

Headache is a common presenting complaint in pediatric emergency departments. The goal of emergent evaluation is to identify those children with potentially life-threatening conditions. We present the case of an adolescent boy presenting with headache and hypertension who was diagnosed with a catecholamine-secreting abdominal paraganglioma. Genetic testing eventually led to the diagnosis of SDHB-related hereditary paraganglioma-pheochromocytoma syndrome. Alarm features ("red flags") in children presenting with headache are reviewed, as well as the main features of paragangliomas and the indications for genetic testing.

We present the case of a 15-year-old boy who presented to our emergency department because of a soft lesion growing on the back of his tongue. On examination, a vegetant mass on the posteromidline lingual part of the body of the tongue was noticed: it was not painful, even if the boy reported discomfort because of its size; there was no bleeding or signs of infection. The magnetic resonance imaging showed the lesion as trilobated and capsulated, but was not diriment to define a diagnosis; excisional biopsy was performed under general anesthesia, and the mass was identified as a schwannoma. Schwannoma, or neurilemmoma, is a benign tumor originating from Schwann cells of the nerve sheath surrounding peripheral nerves. It is slow-growing, usually solitary, and encapsulated. Intraoral schwannomas are rare and account for 1% of lesions of the head and neck region. There is no sex predilection. The symptoms depend on size and location of the tumor. Recurrence is rare after complete surgical resection. The present study aimed to retrospectively describe our experience with a case of neurilemmoma of the tongue presenting in childhood, the diagnostic methods used, the surgical decision, and the treatment outcome and to analyze the data and review the literature available on this type of tumor. The etiology, clinical presentation, differential diagnosis, and management are discussed.