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3 microduplication syndrome.
We present here a patient with typical findings of 19p13.3 microduplication syndrome and also with a prominent response to GH treatment, which has not been reported previously in this syndrome.
We present here a patient with typical findings of 19p13.3 microduplication syndrome and also with a prominent response to GH treatment, which has not been reported previously in this syndrome.
Cri du chat syndrome (CdCS) is a rare orphan genetic disorder. Infants with CdCS have a neurodevelopmental dysfunction, but there are limited studies on their spontaneous movements or effect of the early interventions in children with CdCS. This study aimed to describe early spontaneous movements and investigate the effects of an early intervention in an infant with the CdCS.
We analyzed the detailed general movements assessment (GMA) of an infant with CdCS at 14 weeks, and the Bayley Scales of Infant and Toddler Development-third edition (Bayley-III) were used for the determining and the follow-up of developmental functioning at 14 weeks, 6 months and 12 months. The infant was included in an early intervention beginning from 14 weeks. Fidgety movements were absent. The motor repertoire appeared significantly reduced, and the movement character was monotonous at 14 weeks. Although the infant achieved some developmental milestones with the early intervention program, the improvements were not reflected in the Bayley-III composite score.
As a consequence, abnormal GMA results, including fidgety movements and concurrent movement patterns, seen in CdCS can be associated with early signs of neurodevelopmental dysfunction. Early intervention programs in infants with genetic disorders could help enable the early achievement of motor milestones.
As a consequence, abnormal GMA results, including fidgety movements and concurrent movement patterns, seen in CdCS can be associated with early signs of neurodevelopmental dysfunction. find more Early intervention programs in infants with genetic disorders could help enable the early achievement of motor milestones.
Epileptic seizures might be associated with an increased risk of fractures, either as a result of trauma after a fall or as a result of excessive muscle contraction. In the pediatric population, excessive muscle contraction is a more significant risk factor for fractures, due to the lack of maturity in the musculoskeletal system, while antiepileptic therapy itself can lead to a reduction of bone density. Proximal humeral fractures in the pediatric population are not frequent but both proximal humeral fractures and shoulder dislocation increase the chance of brachial plexus injuries and peripheral nerve lesions.
In this case report, we present a patient who suffered both avulsive greater tuberosity humeral fracture and anterior shoulder dislocation, initially diagnosed by radiography, with consequent brachial plexus injury of the left arm after an epileptic seizure followed by excessive muscle contraction. Electromyoneurography initially showed amplitudes` reduction in tested nerves along with signs of muscle denervation as well as clinical examination signs of the left arm muscular hypotrophy and hypoesthesia, especially in the left humero-scapular region. Electrotherapy and kinesitherapy as well as intramuscular dexamethasone injections administered three weeks after the injury finally improved the clinical examination findings in the patient.
The early detection of swelling compression, accompanied with appropriate therapy may prevent the progression of axonal damage and preserve the functional status of the affected limb.
The early detection of swelling compression, accompanied with appropriate therapy may prevent the progression of axonal damage and preserve the functional status of the affected limb.
Kartagener`s syndrome, a subgroup of primary ciliary dyskinesia, is characterized by situs inversus totalis, chronic sinusitis and bronchiectasis. To date, the association of malignant diseases and Kartagener`s syndrome has been reported and all cases except angioimmunoblastic T cell lymphoma in a child have been seen in adulthood.
A 10-year-old boy who was followed with the diagnosis of Katagener`s syndrome, presented with a progressive mass in the cervical region for 6 months. Physical examination revealed mental retardation, multiple lymphadenopathies, the largest in the left cervical region (4x4 cm), and pectus carinatum. Also, on cardiovascular examination, apex beat was felt on the right fifth intercostal space along midclavicular line. Magnetic resonance imaging of nasopharynx showed narrowing of the nasopharyngeal airway with an increase in wall thickness up to 2.5 cm on the posterior wall of the nasopharynx. Also, bilateral multiple cervical lymphadenopathies were noted. The pathological examinatsopharyngeal carcinoma in a child with Kartagener`s Syndrome.
Toxic substances may be inhaled or aspirated not always by patients themselves but sometimes by healthcare providers unintentionally by nasogastric administrations or medications. Aspirated toxic particles may cause injury in the pulmonary epithelium at various levels of the respiratory tract, leading to a spectrum varying from simple symptoms to severe chronic disease. Imaging features of substances are different depending on their structure and are not well known. Moreover, on follow-up, radiologic findings are not well correlated with clinical findings which progress or recover more rapidly.
In this case series, we report three different chemical pneumonitis due to aspiration of exogenous substances of paint thinner, activated charcoal and liquid paraffin. We present three cases with chest radiographs, distinctive computed tomography findings and follow-up images.
Aspiration of exogenous materials reveals typical imaging findings such as the metallic density of charcoals, fat attenuation of liquid paraffin and necrotic areas within consolidation in hydrocarbon poisoning. Recognition of imaging findings is very important for the diagnosis and characterization of toxic substances.
Aspiration of exogenous materials reveals typical imaging findings such as the metallic density of charcoals, fat attenuation of liquid paraffin and necrotic areas within consolidation in hydrocarbon poisoning. Recognition of imaging findings is very important for the diagnosis and characterization of toxic substances.
Acute hemorrhagic edema of infancy (AHEI) is a rare vasculitis, which presents dramatically as palpable purpuric skin lesions on the limb, face and auricles, with swelling of these parts and low-grade fever, in children up to 2 years of age. To date, approximately 400 cases have been described in the literature. The etiology remains mostly unknown. With or without treatment, AHEI goes to spontaneous recovery within 1-3 weeks, usually without any complications. To our knowledge, compartment syndrome as complication of AHEI has only been reported in one case. We present an unusual case of AHEI with serious complications due to compartment syndrome of the right-hand fingers.
A 16-month-old male child presented with fever and sudden appearance and rapid spread of palpable, painless, non-itching ecchymotic hematomas on the thigh, cheeks, earlobes, forearms, dorsum of hands and feet, with mild edema of these regions. Complete systemic examination and all vital parameters were normal for age. There was no history of bleeding disorders in the family. Except low hemoglobin on complete blood count and increased D-dimer values, all other laboratory investigations were in the normal range. Changes on the right forearm and hand expanded on almost the entire dorsal side and all surfaces of the fingers, with pronounced swelling and formation of bullous lesions, which were spreading and cracking. Skin biopsy confirmed nonspecific small-vessel vasculitis. That required the use of Methylprednisolone, low-molecularweight heparin, antibiotics and debridement of necrotic eschar, with necrectomy of the affected fingers.
Early recognition of AHEI is important to avoid unnecessary investigation and therapy. On the other hand, our reported case warns that unexpected complications may occur.
Early recognition of AHEI is important to avoid unnecessary investigation and therapy. On the other hand, our reported case warns that unexpected complications may occur.
Choanal atresia is the most common congenital nasal anomaly, with an incidence of 15000-18000 live births. Atresia can be seen as membraneous, bony or mixed type. When it is bilateral, it is accepted lifethreatening, therefore bilateral atresia necessitates immediate intervention. Diagnosis is confirmed by endoscopic examination and computed tomography. The absolute treatment is surgical, and different approaches have been proposed.
Herein, we describe our 15-year experience in the treatment of 58 patients of congenital choanal atresia with transnasal endoscopic approach, and we compare the efficacy of placement of an intranasal stent and applying mitomycin while endoscopic microsurgical repair.
The study included 41 female patients (71%) and 17 male patients (29%) with congenital CA. The mean age was 3 years ranging from 10 days to 16 years. The atretic plate was bilateral in 24 patients (41%) and unilateral in 34 (59%). The most common atresia type was the mixed type with 29 patients (50%). A total of 17 patients (29%) required postoperative revision(s). Postoperative revisions were more frequent among patients with bilateral CA (50%), and with mixed CA (31%). Stenting was used additionally by surgical correction for 10 patients. After stenting, fibrosis and restenosis was seen in 7 patients (79%). Mitomycin C was applied peroperatively in 8 patients. Restenosis after mitomycin application was seen in 4 patients (50%).
By our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.
By our experience, endoscopic microsurgical repair of atresia proved to be an effective and safe procedure, results compared with adjuvant treatment modalities like stent or mitomycin C use, was not better. Restenosis was the major problem seen after surgical correction.
Lichen sclerosus (LS) is a chronic disease of the skin, for which the pathogenesis is not known. It can lead to various changes of the skin and the genital area, potentially leading to both functional as well as cosmetic problems for the patient, thus disrupting the quality of life. In this study; the purpose was to review the clinical characteristics and the treatments of the 15 pediatric patients under the age of 18 followed up in our out-patient clinic with a diagnosis of LS and to compare the findings with literature data.
Between 2011 and 2017, the files of 15 patients diagnosed clinically and/or histologically with LS in our clinic were retrospectively examined. The demographic characteristics, clinic and laboratory findings, treatment options of the patients are reported.
Of the patients included in the study 14 were girls and one was a boy. The average age was 11.6 years (5-17 years), the average age for the initial disease was 7.8 years (2-13 years). The average duration of the disease at the diagnosis was 3.
