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Full body magnetic resonance imaging angiogram image. Coronal maximum intensity projection image in portal venous phase depicts a large vein (white arrow) arising from the left renal vein (black arrow) and draining in the portomesenteric junction (black arrowhead) consistent with an extrahepatic portosystemic shunt.
Source publication
We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscula...
Context in source publication
Context 1
... demonstrated permeability of the dural sinuses with a persistent falcine sinus as a variant. At four months of age, an abdomen MRI angiogram was performed and depicted an extrahepatic portosystemic shunt (Abernethy malformation type II) with a dilated vein that originated in the portomesenteric junction and drained into the left renal vein (Figure 3). Both the portal venous system and the inferior vena cava had a normal caliber without other abnor- malities. ...
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Citations
... [3] Other syndromic associations include neurofibromatosis, Cornelia de Lange syndrome, Holt-Oram syndrome, Adams-Oliver syndrome, and Rendu-Osler syndrome. [4,5] In terms of postnatal course, the umbilical-systemic shunt had a worse prognosis when characterized by an absence of or abnormal intrahepatic portal venous system, or the presence of heart enlargement, heart failure, or even fetal hydrops due to increased right atrial volume load in the earlier stage of gestation. In most cases, however, UPSVS is an isolated feature which is treatable and has a favorable outcome if affected fetuses manifest no heart enlargement. ...
... Today, CPSS are typically characterized into intrahepatic (IH) and extrahepatic (EH) (Figure 1). This distinction is relevant because extrahepatic shunts rarely close spontaneously [7,8], while intrahepatic shunts seem more prone to do so in early life, decreasing their clinical significance [1,[8][9][10][11][12][13][14]. Furthermore, persistent patent ductus venosus (PDV), although considered as an IH shunt, is unlikely to close spontaneously after 1-3 months of age, and therefore is often included in the category of EH CPSS [3]. ...
... CPSS are associated with Down's syndrome, polysplenia and heterotaxia [1,3,12,54] as well as other syndromes [11] (Table 2), which have been reviewed in detail elsewhere [12]. Thus, in case of visceral or cardiac malformations, it is recommended that CPSS be sought using liver Doppler US. ...
Background:
Congenital portosystemic shunts (CPSS) are rare vascular anomalies resulting in communications between the portal venous system and the systemic venous circulation, affecting an estimated 30,000 to 50,000 live births. CPSS can present at any age as a multi-system disease of variable severity mimicking both common and rare pediatric conditions.
Case presentations:
Case A: A vascular malformation was identified in the liver of a 10-year-old girl with tall stature, advanced somatic maturation, insulin resistance with hyperinsulinemia, hyperandrogenemia and transient hematuria. Work-up also suggested elevated pulmonary pressures. Case B: A young girl with trisomy 8 mosaicism with a history of neonatal hypoglycemia, transient neonatal cholestasis and tall stature presented newly increased aminotransferase levels at 6 years of age. Case C: A 3-year-old boy with speech delay, tall stature and abdominal pain underwent abdominal ultrasound (US) showing multiple liver nodules, diagnosed as liver hemangiomas by hepatic magnetic resonance imaging (MRI). Management and outcome: After identification of a venous malformation on liver Doppler US, all three patients were referred to a specialized liver center for further work-up within 12 to 18 months from diagnosis. Angio-computed tomography (CT) scan confirmed the presence of either an intrahepatic or extrahepatic CPSS with multiples liver nodules. All three had a hyperintense signal in the globus pallidus on T1 weighted cerebral MRI. Right heart catheterization confirmed pulmonary hypertension in cases A and C. Shunts were closed either using an endovascular or surgical approach. Liver nodules were either surgically removed if there was a risk of malignant degeneration or closely monitored by serial imaging when benign.
Conclusion:
These cases illustrate most of the common chief complaints and manifestations of CPSS. Liver Doppler US is the key to diagnosis. Considering portosystemic shunts in the diagnostic work-up of a patient with unexplained endocrine, liver, gastro-intestinal, cardiovascular, hematological, renal or neurocognitive disorder is important as prompt referral to a specialized center may significantly impact patient outcome.
... dedo, reducción de las falanges proximales y medias, polidactilia, ectrodactilia, hipoplasia de metatarsos, hipoplasia ungueal, pie varo equino, ausencia de la parte distal del miembro, micromielia y braquipodia. (4,5,6,9,12,14) De esta manera, hay una amplia variabilidad en el rango de severidad, por lo que puede presentarse desde ausencia completa de pies y manos a solo ligeras manifestaciones o apariencia normal. Por lo general, están más afectadas las extremidades inferiores. ...
... (15) Con cierta regularidad se hallan cardiopatías congénitas como coartación aórtica y defectos de septo ventricular y atrial, estenosis subaórtica y aórtica, estenosis de las venas pulmonares, tetralogía de Fallot, válvula mitral en paracaídas, válvula aórtica bicúspide y atresia pulmonar. (3,6,13,14,16) Se ha asociado a anomalías neurológicas y del sistema nervioso central como meningitis secundaria a infecciones por medio del defecto cutáneo, encefalocele, quistes poroencefálicos, microcefalia, displasia cortical, paquigiria, hipoplasia asimétrica cerebelar, epilepsia, microcefalia, hipoplasias del cuerpo calloso, calcificaciones intracraneales del tipo de las infecciones TORCH, displasia de la corteza cerebral e hidrocefalia y retraso psicomotor. (5,6,14) Otras anomalías poco comunes incluyen hipoplasia del nervio óptico, microftalmia, alteraciones oculares, malformación del vítreo y la retina, cataratas congénitas bilaterales, defectos en los pabellones auditivos, apéndices cutáneos de los dedos de los pies, ACC de la rodilla, hiperpigmentaciones focales, hemangiomas, malformaciones arteriovenosas del cuero cabelludo, criptorquidia, politelia, retraso del crecimiento, déficit mental, baja talla, esclerosis hepatoportal, anomalías intrahepáticas, fibrosis portales, dolicocefalia y paladar hendido, aplanamiento de la base de la nariz (4,5,8,12,17) Snape (4) y otros, sugieren el uso de criterios mayores y menores para ayudar a alcanzar el diagnóstico de SAO. ...
... (3,6,13,14,16) Se ha asociado a anomalías neurológicas y del sistema nervioso central como meningitis secundaria a infecciones por medio del defecto cutáneo, encefalocele, quistes poroencefálicos, microcefalia, displasia cortical, paquigiria, hipoplasia asimétrica cerebelar, epilepsia, microcefalia, hipoplasias del cuerpo calloso, calcificaciones intracraneales del tipo de las infecciones TORCH, displasia de la corteza cerebral e hidrocefalia y retraso psicomotor. (5,6,14) Otras anomalías poco comunes incluyen hipoplasia del nervio óptico, microftalmia, alteraciones oculares, malformación del vítreo y la retina, cataratas congénitas bilaterales, defectos en los pabellones auditivos, apéndices cutáneos de los dedos de los pies, ACC de la rodilla, hiperpigmentaciones focales, hemangiomas, malformaciones arteriovenosas del cuero cabelludo, criptorquidia, politelia, retraso del crecimiento, déficit mental, baja talla, esclerosis hepatoportal, anomalías intrahepáticas, fibrosis portales, dolicocefalia y paladar hendido, aplanamiento de la base de la nariz (4,5,8,12,17) Snape (4) y otros, sugieren el uso de criterios mayores y menores para ayudar a alcanzar el diagnóstico de SAO. La ACC, las anomalías transversas distales de las extremidades y el antecedente familiar de SAO son considerados como signos mayores para el diagnóstico. ...
Introducción:
El síndrome de Adams-Oliver es una enfermedad heterogénea, caracterizada por aplasia cutis congénita y defecto transverso terminal de extremidades, con un amplio espectro fenotípico de malformaciones asociadas. Se han descrito diferentes modos de herencia en esta enfermedad. En el contexto cubano no se ha presentado ni publicado hasta el momento, casos de pacientes afectados por este síndrome
Objetivo:
Aportar evidencia que demuestra la presentación de casos con síndrome de Adams-Oliver.
Presentación de casos:
Se exponen dos casos de pacientes neonatales con síndrome de Adams-Oliver desde el punto de vista clínico, ambos de presentación esporádica. Además de la aplasia cutis congénita y el defecto transverso terminal de extremidades, uno de los pacientes exhibía cutis marmorata telangiectásica congénita y una anomalía de Ebstein.
Conclusiones:
Se exponen dos neonatos con síndrome de Adams-Oliver, ambos de presentación esporádica y uno de estos con una cardiopatía congénita (anomalía de Ebstein) no informada hasta ahora en la literatura.
... Concerning genetic disorders, Down syndrome is the most frequent with 13 cases reported [25][26][27]. Other reported syndromes included Turner, Leopard, Noonan, Cornelia de Lange, Holt-Oram, Goldenhar, Costello, Adams-Oliver, and Wolf-Hirschhorn [14,28,29]. ...
Congenital portosystemic shunts (CPSS) are rare vascular malformations that create an abnormal connection between portal and systemic veins resulting in complete or partial diversion of the portal flow away from the liver to the systemic venous system. Different anatomic types exist and several classifications have been proposed. They can be associated with other malformations especially cardiac and heterotaxia. The main complications include hepatic encephalopathy, liver tumors, portopulmonary hypertension, and pulmonary arteriovenous shunts. Diagnosis relies on imaging, and prenatal diagnosis is possible. Spontaneous closure of the CPSS is possible in some anatomic forms during the first year of life. When the CPSS remains patent, radiologic or surgical closure of the CPSS may prevent, resolve, or stabilize complications. Interventional radiology plays a key role for both the preoperative evaluation with occlusion test to assess the exact anatomy and to measure portal pressure after occlusion of the CPSS. Endovascular closure is the first option for treatment when possible.
NOTCH1 belongs to the NOTCH family of proteins that regulate cell fate and inflammatory responses. Somatic and germline NOTCH1 variants have been implicated in cancer, Adams‐Oliver syndrome and cardiovascular defects. We describe seven unrelated patients grouped by the presence of leukoencephalopathy with calcifications and heterozygous de novo gain‐of‐function variants in NOTCH1. Immunologic profiling showed upregulated CSF IP‐10, a cytokine secreted downstream of NOTCH1 signaling. Autopsy revealed extensive leukoencephalopathy and microangiopathy with vascular calcifications. This evidence implicates that heterozygous gain‐of‐function variants in NOTCH1 lead to a chronic CNS inflammatory response resulting in a calcifying microangiopathy with leukoencephalopathy. This article is protected by copyright. All rights reserved.
