Diaphragmatic paralysis in newborns is related to brachial plexus palsy. It can be overlooked if thorough examination isn't done. We present a two-weeks-old baby with a birth weight of 3800 grams who ...had a left-sided brachial plexus palsy and torticollis with an undiagnosed left diaphragmatic paralysis even though he was examined by different physicians several times. The role of physical examination, the chest x-rays of patients with brachial paralysis and the treatment modalities of diaphragmatic paralysis due to obstetrical factors are discussed.
Üretral hemanjiomlar çocukluk çağında oldukça nadir olup genellikle anterior üretrada yerleşmekte ya da tüm üretrayı tutmaktadır. Çocuklarda 1977’den bu yana yaklaşık 20 kadar üretral hemanjiom ...bildirilmiş olup, bunların çoğu erkek olgu ve hemen hemen tamamı distal üretra yerleşimlidir. Özellikle erkeklerde posterior üretrayı tutan polipoid lezyonlar obstruktif üropati ya da enfeksiyon nedeni olabileceğinden ve rabdomyosarkom gibi diğer kitlesel lezyonlarla karışabileceğinden önem taşımaktadır1,2. Oldukça nadir olan proksimal üretra yerleşimli hemanjiom saptanan erkek çocuk olguyu burada sunmak istedik.
Hypothalamic hamartoma is a rare congenital lesion. We present the case of a 7-year-old girl who suffered from precocious puberty, the cause of which was diagnosed by using MR imaging and CT as ...pedunculated hypothalamic hamartoma associated with a large craniopharyngeal canal and sellar spine mimicking pituitary duplication.
An adolescent girl was hospitalized due to fever and abdominal flank pain. A left renal haematoma was detected on magnetic resonance imaging. Renal angiography demonstrated multiple microaneurysms at ...both hepatic arteries, intrarenal segments of the bilateral renal arteries, and inferior lobar segment of the left pulmonary artery, which is consistent with the diagnosis of polyarteritis nodosa. Vasculitic syndromes should be considered in patients with visceral haemorrhage.
Introduction: Cystinosis is a rare genetic, lysosomal storage disorder, leading to kidney involvement and other organs. The most critical factor determining the prognosis is its impact on the kidneys ...especially nephropatic cystinosis. This study aimed to evaluate cystinosis patients and identify factors associated with chronic kidney disease (CKD).
Methods: The medical records of 18 nephropatic cystinosis patients were retrospectively reviewed. Demographic and clinical features, prognosis were evaluated. Patients were classified according to their estimated glomerular filtration rate (eGFR) at last visit as eGFR60 ml/min/1.73 m2, and were compared for CKD related factors.
Results: The mean age at diagnosis was 46.61±50.42 months. The most common allel was c. 451A>G. Polyuria, polydipsia, vomiting, growth retardation, and renal osteodystrophy were typical presenting symptoms. At diagnosis, the mean eGFR was 72.94±21.69 ml/min/1.73 m². After an average follow-up of 68.28±60.18 months, the mean eGFR was 63.97±23.59 ml/min/1.73 m², and CKD was observed in 44.4% of patients, and 5 (27.8%) underwent kidney replacement theraphy (KRT). In patients with GFR
Giriş: Sistinozis, nadir görülen genetik bir lizozomal depo hastalığı olup, başta böbrekler olmak üzere diğer organları da etkiler. Prognozu belirleyen en önemli faktör, özellikle nefropatik sistinoziste böbrek tutulumudur. Bu çalışma, sistinozis hastalarının klinik, laboratuvar ve prognozlarının değerlendirilmesini ve kronik böbrek hastalığı (KBH) ile ilişkili faktörleri belirlemeyi amaçlamıştır.
Yöntemler: Onsekiz nefropatik sistinozis hastasının kayıtları retrospektif incelendi. Hastaların demografik ve klinik özellikleri, prognozları değerlendirildi. Hastalar, son vizitteki tahmini glomerüler filtrasyon oranına (eGFR) göre eGFR 60 ml/dak/1.73 m² olarak sınıflandırıldı ve gruplar, KBH ile ilişkili faktörler açısından istatistiksel olarak karşılaştırıldı.
Bulgular: Ortalama tanı yaşı 46.61±50.42 aydı. En yaygın alel c.451A>G idi. Poliüri, polidipsi, kusma, büyüme geriliği ve renal osteodistrofi tipik klinik bulgulardı. Tanı anında ortalama eGFR 72.94±21.69 ml/dak/1.73 m² idi. Ortalama 68.28±60.18 ay takip süresinden sonra, ortalama eGFR 63.97±23.59 ml/dak/1.73 m² idi ve hastaların %44.4'ünde KBH gözlendi ve 5'i (%27.8) böbrek replasman tedavisi aldı. GFR
Chorioangioma is the most frequent nontrophoblastic tumor of the placenta with a incidence ranging from 0.01 to 1.3%. Vascular anomalies of the placenta coincidental with infantile ...hemangioendothelioma (IH) of the liver are rarely described. Here we report a case of a large chorioangioma of the placenta associated with cutaneous hemangiomatosis and IH of the liver. The relationship between hemangiomas and placental chorioangioma is discussed.
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. ...Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases.
We present here the case of a 12-year-old boy who had Klippel-Feil syndrome with renal, cardiac and multiple skeletal anomalies, and we show the relevent three-dimensional computed tomography images. ...Our patient had a triple renal pelvis, mitral valve prolapsus, multiple cervical vertebrae fusions, cervical ribs, hypoplasia of the right thumb, spina bifida of L5, lumbalization at the right side of S1 and a sacral curved defect. In this study, we discuss the atypical clinical features and the diagnostic value of three-dimensional CT for evaluating the skeletal anomalies of the Klippel-Feil syndrome cases. KCI Citation Count: 5
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