En este envio se incluye información sobre dos síndromes craneofaciales de particular interés. Además de los artículos, se le invita a revisar las 34 fotografías y un videoclip sobre el manejo anestésico de un paciente con síndrome de Beckwith-Wiedemann en los siguientes enlaces:
This shipping includes information on two craniofacial syndromes of particular interest. In addition to the articles, you are invited to review 34 pictures and a video clip on the anesthetic management of a patient with Beckwith-Wiedemann syndrome in the following links:
http://www.anestesia-dolor.org/imagenes-medicas-anestesia.html
http://www.youtube.com/watch?v=8ohMIjGhHbU
http://www.youtube.com/watch?v=SSmLcxzHKbY
http://www.youtube.com/watch?v=6H75AjG3UiY
Consideraciones anestésicas en dos hermanas con síndrome de Beckwith-Wiedemann
Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome.
Kim Y, Shibutani T, Hirota Y, Mahbub SF, Matsuura H.
Department of Dental Anesthesiology, Osaka University, Faculty of Dentistry, Japan.
Anesth Prog. 1996 Winter;43(1):24-8.
Abstract
Anesthetic considerations of 21-mo-old and 4-yr-old sisters with Beckwith-Wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2153451/pdf/anesthprog00237-0028.pdf
Anestesia para glosectomía parcial en un niño con síndrome de Beckwith-Wiedemann
Anesthesia for Partial Glossectomy in a Toddler with Beckwith-Wiedemann Syndrome
Víctor Whizar-Lugo MD, Alicia Sigler-Moreno MD, Patricia Ontiveros-Morales MD, Angélica Gómez-Ramírez MD, Francisco Anzorena-Vallarino MD, John Domínguez, Marte López-Gómez MD, Josué Torres-Chavez.
Anestesia en México 2006;18(3):158-154
Abstract
Beckwith-Wiedemann syndrome is characterized by omphalocele, macroglossia, organomegaly and neonatal hypoglycemia as well a myriad of other clinical and laboratory features. This syndromatic entity is also known as omphalocele, macroglossia, and gigantism syndrome. The main anesthesia management problems associated with Beckwith-Wiedemann syndrome are hypoglycemia and tongue enlargement. Careful preanesthetic evaluation is mandatory including a full assessment of the heart and urinary system as well as the airway patency. A child with Beckwith-Wiedemann syndrome may require different types of surgical procedures. It is necessary to anticipate a difficult airway management due to macroglossia, which may cause difficulty with ventilation and/or tracheal
En Español
http://www.anestesiaenmexico.org/RAM8/2006-18-3/009es.pdf
In English
http://www.anestesiaenmexico.org/RAM8/2006-18-3/009.pdf
Anestesia y síndrome de Beckwith-Weideman
Anaesthesia and Beckwith - Weideman Syndrome
A Bösenberg, MBChB, DA(SA) FFA (SA)
Department of Anaesthesia, University Cape Town, South Africa
Southern African Journal of Anaesthesia & Analgesia - July 2003
Synopsis of patient: A 15 hour old, 4.2 kg male presents for closure of a large exomphalos. He was delivered by C-section for foetal distress after a prolonged labour at a peripheral hospital. Apgars were recorded as 6 and 8. His mother was an unmarried primigravida who attended antenatal clinic on one occasion. Meconium aspiration was suspected at birth. Preoperative assessment revealed a large term baby with features of Beckwith-Weideman syndrome - a large tongue; a faint naevus on the forehead; and a skin crease on the ear lobe. Assessment of the liver and spleen was difficult in view of the large omphalocoele (5x6cm). The exomphalos was stained by the meconium in utero. He was tachypnoeic but the chest was clear. There was a 2/6 ejection systolic murmur at the left sternal border. Chest xray was normal apart from mild cardiomegaly. Blood sugar on admission was 1.2 mmol.l ; electrolytes were within normal limits. Haemoglobin was 17gm. (Hct 55) Beckwith-Weideman syndrome Beckwith-Weideman syndrome (BWS) is an autosomal dominant syndrome with variable expressivity and is characterised by abdominal wall defects, (usually exomphalos), macroglossia, and gigantism often associated with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla (Table 1). The syndrome was first described by John Bruce Beckwith, a paediatric pathologist in Seattle (but South African born!) in 19632. Hans Rudolf Weidemann, professor in paediatrics at Kiel University (Germany), also described the syndrome at much the same time3. More recently the syndrome has become known as the EMG syndrome: exomphalos - macroglossia - gigantism.
ttp://www.sajaa.co.za/index.php/sajaa/article/view/138/146
Anestesia para un niño con síndrome de Pallister-Killian. Informe de caso
Anesthesia in child with Pallister-Killian syndrome: case report.
Cruz JR, Videira RL.
CMA, Hospital e Maternidade São Luiz.
Rev Bras Anestesiol. 2004 Oct;54(5):677-80.
Abstract
Pallister-Killian Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome 12. There is little information about PKS in the anesthetic literature. This report aimed at discussing aspects of this syndrome that may be relevant to anesthesia. CASE REPORT: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under general anesthesia. He was induced and maintained with sevoflurane under facial mask and oropharyngeal canulla. Pulmonary ventilation was manually assisted during induction. There has been no complication and the procedure was performed in outpatient regimen. CONCLUSIONS: The importance of a thorough preanesthetic evaluation is emphasized due to possible malformations associated to PKS, including cardiopathies. Attention to difficult intubation or maintenance of the airways is recommended.
http://www.scielo.br/pdf/rba/v54n5/en_v54n5a09.pdf
Tetrasomía 12p (Síndrome de Pallister-Killian)
Tetrasomy 12p (Pallister-Killian syndrome).
Schinzel A.
Institut für Medizinische Genetik der Universität Zürich, Switzerland.
J Med Genet. 1991 Feb;28(2):122-5.
First described in 1977 by Pallister et al. and independently reported in 1981 by Killian and
Teschler-Nicola, the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, Killian-Teschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21qq. It is one of the chromosome aberrations in which clinical recognition is important in order to initiate the necessary cytogenetic investigations from different tissues.
http://jmg.bmj.com/content/28/2/122.long
Atentamente
Anestesiología y Medicina del Dolor
www.anestesia-dolor.org
This shipping includes information on two craniofacial syndromes of particular interest. In addition to the articles, you are invited to review 34 pictures and a video clip on the anesthetic management of a patient with Beckwith-Wiedemann syndrome in the following links:
http://www.anestesia-dolor.org/imagenes-medicas-anestesia.html
http://www.youtube.com/watch?v=8ohMIjGhHbU
http://www.youtube.com/watch?v=SSmLcxzHKbY
http://www.youtube.com/watch?v=6H75AjG3UiY
Consideraciones anestésicas en dos hermanas con síndrome de Beckwith-Wiedemann
Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome.
Kim Y, Shibutani T, Hirota Y, Mahbub SF, Matsuura H.
Department of Dental Anesthesiology, Osaka University, Faculty of Dentistry, Japan.
Anesth Prog. 1996 Winter;43(1):24-8.
Abstract
Anesthetic considerations of 21-mo-old and 4-yr-old sisters with Beckwith-Wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2153451/pdf/anesthprog00237-0028.pdf
Anestesia para glosectomía parcial en un niño con síndrome de Beckwith-Wiedemann
Anesthesia for Partial Glossectomy in a Toddler with Beckwith-Wiedemann Syndrome
Víctor Whizar-Lugo MD, Alicia Sigler-Moreno MD, Patricia Ontiveros-Morales MD, Angélica Gómez-Ramírez MD, Francisco Anzorena-Vallarino MD, John Domínguez, Marte López-Gómez MD, Josué Torres-Chavez.
Anestesia en México 2006;18(3):158-154
Abstract
Beckwith-Wiedemann syndrome is characterized by omphalocele, macroglossia, organomegaly and neonatal hypoglycemia as well a myriad of other clinical and laboratory features. This syndromatic entity is also known as omphalocele, macroglossia, and gigantism syndrome. The main anesthesia management problems associated with Beckwith-Wiedemann syndrome are hypoglycemia and tongue enlargement. Careful preanesthetic evaluation is mandatory including a full assessment of the heart and urinary system as well as the airway patency. A child with Beckwith-Wiedemann syndrome may require different types of surgical procedures. It is necessary to anticipate a difficult airway management due to macroglossia, which may cause difficulty with ventilation and/or tracheal
En Español
http://www.anestesiaenmexico.org/RAM8/2006-18-3/009es.pdf
In English
http://www.anestesiaenmexico.org/RAM8/2006-18-3/009.pdf
Anestesia y síndrome de Beckwith-Weideman
Anaesthesia and Beckwith - Weideman Syndrome
A Bösenberg, MBChB, DA(SA) FFA (SA)
Department of Anaesthesia, University Cape Town, South Africa
Southern African Journal of Anaesthesia & Analgesia - July 2003
Synopsis of patient: A 15 hour old, 4.2 kg male presents for closure of a large exomphalos. He was delivered by C-section for foetal distress after a prolonged labour at a peripheral hospital. Apgars were recorded as 6 and 8. His mother was an unmarried primigravida who attended antenatal clinic on one occasion. Meconium aspiration was suspected at birth. Preoperative assessment revealed a large term baby with features of Beckwith-Weideman syndrome - a large tongue; a faint naevus on the forehead; and a skin crease on the ear lobe. Assessment of the liver and spleen was difficult in view of the large omphalocoele (5x6cm). The exomphalos was stained by the meconium in utero. He was tachypnoeic but the chest was clear. There was a 2/6 ejection systolic murmur at the left sternal border. Chest xray was normal apart from mild cardiomegaly. Blood sugar on admission was 1.2 mmol.l ; electrolytes were within normal limits. Haemoglobin was 17gm. (Hct 55) Beckwith-Weideman syndrome Beckwith-Weideman syndrome (BWS) is an autosomal dominant syndrome with variable expressivity and is characterised by abdominal wall defects, (usually exomphalos), macroglossia, and gigantism often associated with visceromegaly, adrenocortical cytomegaly, and dysplasia of the renal medulla (Table 1). The syndrome was first described by John Bruce Beckwith, a paediatric pathologist in Seattle (but South African born!) in 19632. Hans Rudolf Weidemann, professor in paediatrics at Kiel University (Germany), also described the syndrome at much the same time3. More recently the syndrome has become known as the EMG syndrome: exomphalos - macroglossia - gigantism.
ttp://www.sajaa.co.za/index.php/sajaa/article/view/138/146
Anestesia para un niño con síndrome de Pallister-Killian. Informe de caso
Anesthesia in child with Pallister-Killian syndrome: case report.
Cruz JR, Videira RL.
CMA, Hospital e Maternidade São Luiz.
Rev Bras Anestesiol. 2004 Oct;54(5):677-80.
Abstract
Pallister-Killian Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome 12. There is little information about PKS in the anesthetic literature. This report aimed at discussing aspects of this syndrome that may be relevant to anesthesia. CASE REPORT: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under general anesthesia. He was induced and maintained with sevoflurane under facial mask and oropharyngeal canulla. Pulmonary ventilation was manually assisted during induction. There has been no complication and the procedure was performed in outpatient regimen. CONCLUSIONS: The importance of a thorough preanesthetic evaluation is emphasized due to possible malformations associated to PKS, including cardiopathies. Attention to difficult intubation or maintenance of the airways is recommended.
http://www.scielo.br/pdf/rba/v54n5/en_v54n5a09.pdf
Tetrasomía 12p (Síndrome de Pallister-Killian)
Tetrasomy 12p (Pallister-Killian syndrome).
Schinzel A.
Institut für Medizinische Genetik der Universität Zürich, Switzerland.
J Med Genet. 1991 Feb;28(2):122-5.
First described in 1977 by Pallister et al. and independently reported in 1981 by Killian and
Teschler-Nicola, the syndrome is known for its many anomalies and by various names including Pallistermosaic syndrome, Pallister-Killian syndrome, Pallister-Killian-Teschler-Nicola syndrome, Killian-Teschler-Nicola syndrome, and others. Some early cases were misinterpreted as mosaic tetrasomy 21qq. It is one of the chromosome aberrations in which clinical recognition is important in order to initiate the necessary cytogenetic investigations from different tissues.
http://jmg.bmj.com/content/28/2/122.long
Atentamente
Anestesiología y Medicina del Dolor
www.anestesia-dolor.org
No hay comentarios:
Publicar un comentario