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Tracheal and Bronchial Developmental Abnormalities, and Inflammatory Diseases including Bronchiectasis, Cystic Fibrosis and Bronchiolitis.
Published in Fred W Wright, Radiology of the Chest and Related Conditions, 2022
Agenesis usually refers to a complete absence of a lung and its bronchus. It may occur on either side, and this occurs in about equal numbers. Sometimes a small bronchial stump is present. Agenesis on the right tends to carry a poorer prognosis, probably due to the consequent
Deficiency of the pyruvate dehydrogenase complex
Published in William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop, Atlas of Inherited Metabolic Diseases, 2020
William L. Nyhan, Georg F. Hoffmann, Aida I. Al-Aqeel, Bruce A. Barshop
Neuroimaging may reveal attenuated signal in the basal ganglia, particularly in putamen and globus pallidus [38, 39], and ultimately generalized cerebral atrophy. Histopathologic examination reveals spongiform degeneration and gliosis especially in the basal ganglia. Among the neonatal acidosis group, some have had cortical cysts at autopsy [24, 39]. A number of these patients have also had agenesis of corpus callosum. Cerebral atrophy may be generalized.
Empty Renal Fossa
Published in Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan, Problem-Based Obstetric Ultrasound, 2019
Amar Bhide, Asma Khalil, Aris T Papageorghiou, Susana Pereira, Shanthi Sairam, Basky Thilaganathan
In general, unilateral agenesis of the kidney carries a good prognosis, provided the contralateral kidney appears to be structurally normal, with a normal bladder and liquor volume. In cases with bilateral agenesis, the outcome is uniformly fatal, regardless of the associated abnormalities. This is due to the lung hypoplasia as a consequence of the lack of amniotic fluid at the critical stage of lung development. In suspected bilateral agenesis, a post-mortem examination is invaluable in making a diagnosis and for predicting recurrence in future pregnancies.
Clinical Presentations and Diagnostic Imaging of VACTERL Association
Published in Fetal and Pediatric Pathology, 2023
Gabriele Tonni, Çağla Koçak, Gianpaolo Grisolia, Giuseppe Rizzo, Edward Araujo Júnior, Heron Werner, Rodrigo Ruano, Waldo Sepulveda, Maria Paola Bonasoni, Mario Lituania
Renal anomalies occur in approximately 50-80% of patients with VACTERL association [32,33]. The renal abnormality spectrum ranges from renal agenesis to horseshoe kidney and MCDKD, which may be also associated with limb defects such as oligodactyly of the foot [50] (Figures 11 and 12), and crossed renal ectopia may be seen (Figures 13 and 14). In some studies, the most common renal manifestation seen in patients with VACTERL association is renal agenesis [51,52] (Figures 15 and 16). In a cohort study conducted by Cunningham et al. [53], vesicoureteral reflux (VUR) in addition to a structural defect was the most common renal anomaly, followed by renal agenesis. Stenosis of the urethra with an enlarged bladder, resembling lower urinary tract obstruction, can also be observed [54]. Urinary anomalies represent a series of diseases capable of causing major morbidity, some of which can be life-threatening. These anomalies often go unrecognized or overlooked, affecting the child’s growth and the future chance of transplant success [55]. In the postnatal period, examination with a voiding cystourethrogram may be required in cases with VUR [5]. Renal agenesis can be diagnosed using US and/or MRI. Renal agenesis and renal artery absence, hypertrophy of the contralateral kidney on US, and MRI with the ipsilateral adrenal gland “lying-down” in the pelvis are recognized MRI diagnostic clusters [56].
Unexpected finding of thyroid hemiagenesis in a patient presenting with a right thyroid nodule and a history of Poland syndrome
Published in Journal of Endocrinology, Metabolism and Diabetes of South Africa, 2023
Cheikh Ahmedou Lame, Birame Loum, Peter Mazzaglia, Cheikhna Ndiaye, Thierno Boubacar Diallo, Abibou Ndiaye, Agnes Diouf, Aly Toure
Frequently associated findings include ipsilateral mammary agenesis and syndactyly,2 as in our patient. Thyroid hemiagenesis is an often asymptomatic congenital malformation, in which one thyroid lobe fails to form.8 Most patients are euthyroid.9 The first description was in 1895 by Marshall.3 The pathogenesis of thyroid hemiagenesis remains obscure, most theories suggesting a genetic link, based on familial clusters.10,11 The descent of the thyroid primordium from the primitive pharynx to its eventual location is closely associated with migration of the aortic sac and its branches. Therefore, many theorise that abnormal vascular development is the cause of thyroid hemiagenesis.12,13 Agenesis of the left lobe is most frequent, occurring 68–80% of the time,8 as in our patient.
Prenatal diagnosis of the persistent right umbilical vein, incidence and clinical significance
Published in Journal of Obstetrics and Gynaecology, 2022
Gulsah Dagdeviren, Ayse Keles, Ozge Yücel Celik, Aykan Yucel, Dilek Sahin
In normal embryonic development, obliteration of the right umbilical vein begins at 4 weeks gestation and at 7 weeks it disappears. The left umbilical vein connects to the left portal vein of the foetal liver and carries all blood from the placenta to the foetus (Yagel et al. 2010a, 2010b). The persistent right umbilical vein (PRUV) is a pathological vascular anomaly occurring in embryonic development, in which the left umbilical vein regresses and the right umbilical vein remains open. The prevalence of intrahepatic PRUV has been reported to be 0.13% (Lide et al. 2016). The cause of PRUV is unknown. Thrombus, teratogens or folic acid deficiency is possible aetiologies (Weichert et al. 2011). PRUV can occur in an isolated form that represents its normal variant or be associated with other major or minor anomalies. The prognosis of isolated PRUV cases is good, but the prognosis of cases associated with DV agenesis is poor (Martinez et al. 2013).