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PP-209. Beckwith Wiedemann Syndrome: Administration of potassium ascorbate and ribose in a syndrome with high neoplastic risk and elevated oxidative stress biomarkers
S100
Abstracts
after birth with generalized hypotonia. Familial history was unremarkable. Pregnancy was unmarked but an increased need for assisted delivery after vaginal birth took place. Clinical findings included neonatal hypotonia, altered consciousness (lethargy), dolichocephaly, and bilateral cryptorchidism without any other signs of systemic illness. The newborn had decreased spontaneous movements and arousal, a weak cry, poor suck (need for tube feeding), and poor reflexes. Cranial ultrasound showed a temporal bilateral echogenic lesion. MRI of the head confirmed a diagnosis of extensive thrombosis of cerebral sinuses (CSVT) with a partial occlusion of superior sagittal sinus, torcular, transverse and sigmoid sinuses with no parenchymal brain lesion. A detailed hemostatic screening for hypercoagulable states was normal. Because of persistent and unexplained hypotonia Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS. FISH analysis excluded a deletion in 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15 was confirmed. Treatment consisted of rehydration and systemic anticoagulation with LMWH in a therapeutic anti-X level. The hypotonia gradually improved after the acute phase and the neonate was discharged at 28 days of life. On a follow up examination at 2 months of age, MR venography (MRV) revealed a remarkable reduction of thrombus size.
Conclusions This result gives the way for an antioxidant strategy, supposing that an antioxidant administration could reduce these values and also this source of cancer risk. The choice of an antioxidant strategy must answer to the following characteristics: lack of toxicity, easy administration also in childhood (orally), cheap, few and not relevant side-effects. It should be basic to monitor, before and after its administration, OS entity by using a biomarker profile. Follow-up studies are required to evaluate the reduction in neoplastic risk in children with BWS treated with an antioxidant. Randomized clinical trials enrolling a large record of cases should be useful to verify shortand long-term effects of antioxidant strategies. doi:10.1016/j.earlhumdev.2010.09.262
PP-208. Sirenomelia and twin brother: A case report Bahiyeh Qandalji Ministry of Health, Jordan
Conclusion
Aim
To our knowledge, this is the second report of the association of a neonatal venous thrombosis and a PW syndrome. Consequently, in every PWS infant with unexplained and persistent hypotonia detailed hypercoagulative studies and possibly MRI/MRV for CSVT should be performed. We should consider CSVT as a possible finding in PWS.
Sirenomelia is a very rare congenital deformity in which the legs are fused together and is a lethal condition. We report a case of sirenomelia whose twin brother had isolated duodenal atresia.
doi:10.1016/j.earlhumdev.2010.09.261
O.a primigravida 25 years old mother who had caesarean section due to twin and breech pregnancy. The first baby was a case of sirenomelia with a single lower extremity, absent genitalia, absent anal orifice and single umbilical artery. The second baby was a boy (36 weeks gestation), with birth weight of 2.2 kg. The baby had greenish vomiting and abdominal X-ray revealed typical double bubble appearance. Laporotomy revealed annular pancreas and baby had duodenoduodenostomy. No other abnormalities were detected.
PP-207. Evidence of oxidative stress in Beckwith Wiedemann Syndrome by measuring a redox biomarkers profile Caterina Lo Rizzo, Cecilia Anichini, Antonello Rodriguez, Mariangela Longini, Luca Le Pera, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk for neoplasms (1:13,700 births). According to recent literature on the link between oxidative stress (OS) and neoplastic development, we checked the role of OS in this syndrome.
Case presentation
Conclusion Sirenomelia is a rare lethal congenital abnormality. The presence of a congenital abnormality in his twin sibling is even more rare. This raises the question regarding possible common etiology between sirenomelia and isolated duodenal atresia. doi:10.1016/j.earlhumdev.2010.09.263
Materials and methods We describe the clinical features of 4 patients, 3 children and one adult, with clinical and molecular diagnosis, observed in our clinic. At the time of diagnosis we submitted our patients to the determination of a reliable OS biomarker profile in a blood sample in order to compare its values with these of controls. Biomarker profile included advanced oxidation protein products (AOPP), non protein binding iron (NPBI), isoprostanes (IP2), carbonyl groups (CO) and hydroperoxides (dROMS). 40 healthy subjects with the same age of our patients, 20 adults (from 25 to 40 years) and 20 children (from 1 month to 5 years), were used as controls. Results For the first time in literature, we found an increase in OS biomarker levels in all our patients when compared with control levels.
PP-209. Beckwith Wiedemann Syndrome: Administration of potassium ascorbate and ribose in a syndrome with high neoplastic risk and elevated oxidative stress biomarkers Caterina Lo Rizzo, Cecilia Anichini, Fabrizio Proietti, Mariangela Longini, Serafina Perrone, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk of neoplasms (1:13,700 births). According to recent literature about the link between oxidative stress (OS) and neoplastic development, we studied the OS assessment of our patients and we administrated,
Abstracts
for the first time, potassium ascorbate with ribose everyday in order to correct the effects of Free Radicals (FR). Materials and methods We describe the clinical features of 3 patients, 2 children and one adult, observed every three months in our clinic. We submitted our patients to the determination of a reliable OS biomarker profile in a blood sample, in order to compare its values after antioxidant administration with these of controls. Results We observed a reduction of OS values in these patients, and in particular no secondary neoplastic rises in one case and no primary rises in the other ones. Conclusions We hypothesized that the administration of an antioxidant also in genetic syndrome with high neoplastic risk could have a role in the reduction of risk factors. Our choice of potassium ascorbate with ribose is linked with a lot of positive characteristics of this compound. It is not toxic, it is easy to administer also in childhood, it has few and not relevant side-effects, it is cheap and, finally, we can control OS values after its administration without invasive practices. In conclusion, we underline the importance to follow-up the patients once the diagnosis is performed in order to prevent the onset of neoplasms monitoring the antioxidant system and its relationship with the neoplastic risk. The therapy with potassium ascorbate with ribose can modulate antioxidant system and appear an available instrument for the reduction of neoplastic risk in this genetic pathologies.
doi:10.1016/j.earlhumdev.2010.09.264
PP-210. Griscelli Syndrome: Report of three siblings from Jordan Bahiyeh Qandalji Ministry of Health, Jordan Aim Griscelli Syndrome is a rare autosomal recessive disorder characterized by silvery hair. One variant (type 2) is characterized by hepatosplenomegaly, lymphohistiocytosis and immunedeficiency. This is a report of three siblings who presented with Griscelli Syndrome (2) in neonatal period. Case presentation B/O R.A.S. was born full term through normal vaginal delivery with b.wt 2.6 kg. She was admitted soon after delivery with pallor and hepatosplenomegaly. Exam revealed fine silvery hair, liver of 7 cm bcm, and spleen 5 cm bcm. Investigation revealed Hb: 11.0, WBC: 3600, and PLT: 16,000. F/H: parents are first degree cousins, had two children who presented in neonatal period with anaemia, fever, and hepatosplenomegaly, both died at three months of age (11 and 14 years ago). This neonate had bone marrow that revealed haemophagocytic syndrome. There was no HLA matched bm donor. Baby had recurrent chest infections, gastroenteritis, O.M, and oral candidiasis. She received supportive measure with broad spectrum A/B, blood and platelet transfusion. She died at the age of three months.
S101
Conclusion This unfortunate family had three siblings with Griscelli syndrome (2) presenting very early in neonatal period. These are the youngest siblings, with this rare disease, reported in literature. doi:10.1016/j.earlhumdev.2010.09.265
PP-211. Amniotic band sequence: Report of an extreme case Zelal Kahramaner, Hese Cosar, Ebru Turkoglu, Aydın Erdemir, Ali Kanık, Sumer Sutcuoglu, Esra Arun Ozer Tepecik Training and Research Hospital, Neonatology Clinic, Turkey Aim Amniotic band sequence (ABS) is a rare cause of fetal disruptions associated with fibrous bands that entrap various fetal parts in utero and lead to abnormalities. Fetal disruptions of ABS are influenced by the timing of the amnion rupture and the site of amnion adherence. Herein we report an extreme case of ABS presented with dysmorphic face, amputation of four extremities and fusion of legs and genitalia with a fibrotic band. This is an extreme case of ABS characterized by such an unusual combination of multiple fetal anomalies. Case presentation A 36-week-gestation male neonate weighing 2770 g was born to a 22-year-old gravida 2, para 1 mother by caesarean section. The mother's medical history was unremarkable. The patient was admitted to the NICU after delivery because of multiple congenital anomalies. Parents are nonconsanguineous. The first pregnancy was terminated at 2nd trimester because of anencephaly. On admission his weight was 2770 g (10–50 percentiles) and head circumference 29.5 cm (10–50 percentiles). On physical examination, brachycephalia, sparse eyebrows, syngnathia, skin tag at the chin, thick and folded ear helix and severe facial midline defects were noted. Upper and lower extremity amputations were evident. There were extensive webs running from the back of knees down to the heels, fibrous bands between legs, genitalia and umbilicus. Cryptorchidism was also noted. Echocardiography, transfontanel and abdominal ultrasound were found normal. Karyotype analysis was also normal. TORCH screen was negative. X-ray imaging of vertebrae was normal whereas fingers and toes were absent. The patient died of sepsis on the postnatal day 20. Parents did not give consent for postmortem examination. Conclusion Although most cases of ABS have no risk of recurrence, this has been questioned. Anencephaly is an associated disruption with ABS, because of previous history in the deceased sibling we suggest that the parents need counselling for the next pregnancies and close prenatal follow up. In addition, the presence of a previous child with anencephaly in this case supports the notion of a genetic factor. doi:10.1016/j.earlhumdev.2010.09.266
PP-212. Vein of Galen aneursym in a newborn baby Sebnem Calkavura, Ozgur Olukmana, Nuh Yılmaza, Fusun Atlıhana, Vedide Tavlıa, Mustafa Parıldarb, Nilgun Kultursayb a Dr. Behçet Uz Children's Hospital, Turkey b Ege University Faculty of Medicine, Turkey
Abstracts
after birth with generalized hypotonia. Familial history was unremarkable. Pregnancy was unmarked but an increased need for assisted delivery after vaginal birth took place. Clinical findings included neonatal hypotonia, altered consciousness (lethargy), dolichocephaly, and bilateral cryptorchidism without any other signs of systemic illness. The newborn had decreased spontaneous movements and arousal, a weak cry, poor suck (need for tube feeding), and poor reflexes. Cranial ultrasound showed a temporal bilateral echogenic lesion. MRI of the head confirmed a diagnosis of extensive thrombosis of cerebral sinuses (CSVT) with a partial occlusion of superior sagittal sinus, torcular, transverse and sigmoid sinuses with no parenchymal brain lesion. A detailed hemostatic screening for hypercoagulable states was normal. Because of persistent and unexplained hypotonia Prader-Willi syndrome (PWS) was suspected. Methylation analysis confirmed PWS. FISH analysis excluded a deletion in 15q11-q13 and maternal uniparental disomy (UPD) for chromosome 15 was confirmed. Treatment consisted of rehydration and systemic anticoagulation with LMWH in a therapeutic anti-X level. The hypotonia gradually improved after the acute phase and the neonate was discharged at 28 days of life. On a follow up examination at 2 months of age, MR venography (MRV) revealed a remarkable reduction of thrombus size.
Conclusions This result gives the way for an antioxidant strategy, supposing that an antioxidant administration could reduce these values and also this source of cancer risk. The choice of an antioxidant strategy must answer to the following characteristics: lack of toxicity, easy administration also in childhood (orally), cheap, few and not relevant side-effects. It should be basic to monitor, before and after its administration, OS entity by using a biomarker profile. Follow-up studies are required to evaluate the reduction in neoplastic risk in children with BWS treated with an antioxidant. Randomized clinical trials enrolling a large record of cases should be useful to verify shortand long-term effects of antioxidant strategies. doi:10.1016/j.earlhumdev.2010.09.262
PP-208. Sirenomelia and twin brother: A case report Bahiyeh Qandalji Ministry of Health, Jordan
Conclusion
Aim
To our knowledge, this is the second report of the association of a neonatal venous thrombosis and a PW syndrome. Consequently, in every PWS infant with unexplained and persistent hypotonia detailed hypercoagulative studies and possibly MRI/MRV for CSVT should be performed. We should consider CSVT as a possible finding in PWS.
Sirenomelia is a very rare congenital deformity in which the legs are fused together and is a lethal condition. We report a case of sirenomelia whose twin brother had isolated duodenal atresia.
doi:10.1016/j.earlhumdev.2010.09.261
O.a primigravida 25 years old mother who had caesarean section due to twin and breech pregnancy. The first baby was a case of sirenomelia with a single lower extremity, absent genitalia, absent anal orifice and single umbilical artery. The second baby was a boy (36 weeks gestation), with birth weight of 2.2 kg. The baby had greenish vomiting and abdominal X-ray revealed typical double bubble appearance. Laporotomy revealed annular pancreas and baby had duodenoduodenostomy. No other abnormalities were detected.
PP-207. Evidence of oxidative stress in Beckwith Wiedemann Syndrome by measuring a redox biomarkers profile Caterina Lo Rizzo, Cecilia Anichini, Antonello Rodriguez, Mariangela Longini, Luca Le Pera, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk for neoplasms (1:13,700 births). According to recent literature on the link between oxidative stress (OS) and neoplastic development, we checked the role of OS in this syndrome.
Case presentation
Conclusion Sirenomelia is a rare lethal congenital abnormality. The presence of a congenital abnormality in his twin sibling is even more rare. This raises the question regarding possible common etiology between sirenomelia and isolated duodenal atresia. doi:10.1016/j.earlhumdev.2010.09.263
Materials and methods We describe the clinical features of 4 patients, 3 children and one adult, with clinical and molecular diagnosis, observed in our clinic. At the time of diagnosis we submitted our patients to the determination of a reliable OS biomarker profile in a blood sample in order to compare its values with these of controls. Biomarker profile included advanced oxidation protein products (AOPP), non protein binding iron (NPBI), isoprostanes (IP2), carbonyl groups (CO) and hydroperoxides (dROMS). 40 healthy subjects with the same age of our patients, 20 adults (from 25 to 40 years) and 20 children (from 1 month to 5 years), were used as controls. Results For the first time in literature, we found an increase in OS biomarker levels in all our patients when compared with control levels.
PP-209. Beckwith Wiedemann Syndrome: Administration of potassium ascorbate and ribose in a syndrome with high neoplastic risk and elevated oxidative stress biomarkers Caterina Lo Rizzo, Cecilia Anichini, Fabrizio Proietti, Mariangela Longini, Serafina Perrone, Giuseppe Buonocore Department of Pediatrics, Obstetrics and Reproductive Medicine, Italy Aim Beckwith Wiedemann Syndrome (BWS) is a genomic imprinting disorder characterized by overgrowth and increased risk of neoplasms (1:13,700 births). According to recent literature about the link between oxidative stress (OS) and neoplastic development, we studied the OS assessment of our patients and we administrated,
Abstracts
for the first time, potassium ascorbate with ribose everyday in order to correct the effects of Free Radicals (FR). Materials and methods We describe the clinical features of 3 patients, 2 children and one adult, observed every three months in our clinic. We submitted our patients to the determination of a reliable OS biomarker profile in a blood sample, in order to compare its values after antioxidant administration with these of controls. Results We observed a reduction of OS values in these patients, and in particular no secondary neoplastic rises in one case and no primary rises in the other ones. Conclusions We hypothesized that the administration of an antioxidant also in genetic syndrome with high neoplastic risk could have a role in the reduction of risk factors. Our choice of potassium ascorbate with ribose is linked with a lot of positive characteristics of this compound. It is not toxic, it is easy to administer also in childhood, it has few and not relevant side-effects, it is cheap and, finally, we can control OS values after its administration without invasive practices. In conclusion, we underline the importance to follow-up the patients once the diagnosis is performed in order to prevent the onset of neoplasms monitoring the antioxidant system and its relationship with the neoplastic risk. The therapy with potassium ascorbate with ribose can modulate antioxidant system and appear an available instrument for the reduction of neoplastic risk in this genetic pathologies.
doi:10.1016/j.earlhumdev.2010.09.264
PP-210. Griscelli Syndrome: Report of three siblings from Jordan Bahiyeh Qandalji Ministry of Health, Jordan Aim Griscelli Syndrome is a rare autosomal recessive disorder characterized by silvery hair. One variant (type 2) is characterized by hepatosplenomegaly, lymphohistiocytosis and immunedeficiency. This is a report of three siblings who presented with Griscelli Syndrome (2) in neonatal period. Case presentation B/O R.A.S. was born full term through normal vaginal delivery with b.wt 2.6 kg. She was admitted soon after delivery with pallor and hepatosplenomegaly. Exam revealed fine silvery hair, liver of 7 cm bcm, and spleen 5 cm bcm. Investigation revealed Hb: 11.0, WBC: 3600, and PLT: 16,000. F/H: parents are first degree cousins, had two children who presented in neonatal period with anaemia, fever, and hepatosplenomegaly, both died at three months of age (11 and 14 years ago). This neonate had bone marrow that revealed haemophagocytic syndrome. There was no HLA matched bm donor. Baby had recurrent chest infections, gastroenteritis, O.M, and oral candidiasis. She received supportive measure with broad spectrum A/B, blood and platelet transfusion. She died at the age of three months.
S101
Conclusion This unfortunate family had three siblings with Griscelli syndrome (2) presenting very early in neonatal period. These are the youngest siblings, with this rare disease, reported in literature. doi:10.1016/j.earlhumdev.2010.09.265
PP-211. Amniotic band sequence: Report of an extreme case Zelal Kahramaner, Hese Cosar, Ebru Turkoglu, Aydın Erdemir, Ali Kanık, Sumer Sutcuoglu, Esra Arun Ozer Tepecik Training and Research Hospital, Neonatology Clinic, Turkey Aim Amniotic band sequence (ABS) is a rare cause of fetal disruptions associated with fibrous bands that entrap various fetal parts in utero and lead to abnormalities. Fetal disruptions of ABS are influenced by the timing of the amnion rupture and the site of amnion adherence. Herein we report an extreme case of ABS presented with dysmorphic face, amputation of four extremities and fusion of legs and genitalia with a fibrotic band. This is an extreme case of ABS characterized by such an unusual combination of multiple fetal anomalies. Case presentation A 36-week-gestation male neonate weighing 2770 g was born to a 22-year-old gravida 2, para 1 mother by caesarean section. The mother's medical history was unremarkable. The patient was admitted to the NICU after delivery because of multiple congenital anomalies. Parents are nonconsanguineous. The first pregnancy was terminated at 2nd trimester because of anencephaly. On admission his weight was 2770 g (10–50 percentiles) and head circumference 29.5 cm (10–50 percentiles). On physical examination, brachycephalia, sparse eyebrows, syngnathia, skin tag at the chin, thick and folded ear helix and severe facial midline defects were noted. Upper and lower extremity amputations were evident. There were extensive webs running from the back of knees down to the heels, fibrous bands between legs, genitalia and umbilicus. Cryptorchidism was also noted. Echocardiography, transfontanel and abdominal ultrasound were found normal. Karyotype analysis was also normal. TORCH screen was negative. X-ray imaging of vertebrae was normal whereas fingers and toes were absent. The patient died of sepsis on the postnatal day 20. Parents did not give consent for postmortem examination. Conclusion Although most cases of ABS have no risk of recurrence, this has been questioned. Anencephaly is an associated disruption with ABS, because of previous history in the deceased sibling we suggest that the parents need counselling for the next pregnancies and close prenatal follow up. In addition, the presence of a previous child with anencephaly in this case supports the notion of a genetic factor. doi:10.1016/j.earlhumdev.2010.09.266
PP-212. Vein of Galen aneursym in a newborn baby Sebnem Calkavura, Ozgur Olukmana, Nuh Yılmaza, Fusun Atlıhana, Vedide Tavlıa, Mustafa Parıldarb, Nilgun Kultursayb a Dr. Behçet Uz Children's Hospital, Turkey b Ege University Faculty of Medicine, Turkey