Infrequent association of two rare diseases: amniotic band syndrome and osteogenesis imperfecta

Abstract Objectives Amniotic band syndrome and osteogenesis imperfecta are two distinct diseases that develop due to structural defects of the collagen protein. In our paper, we report the concurrence of these two diseases rarely seen in the newborn period. Case presentation A female infant born at 33rd gestational week was found to have constrictive bands in her right lower extremity and flexion contractures in distal joints of lower and upper extremities due to amniotic bands in postnatal physical examination. While being treated for respiratory difficulty, she was diagnosed with osteogenesis imperfecta and treated with bisphosphonates upon being found to suffer bilateral humeral fractures on the sixth day of life. She received respiratory support with mechanical ventilation due to respiratory tract complications related to osteogenesis imperfecta and died on the 384th day of life. Conclusions One should bear in mind that other collagen tissue diseases may accompany the amniotic band syndrome; this possibility should be definitely pursued if clinical suspicion exists.

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Amniotic band syndrome with double encephalocele: A case report

Surgical Neurology International ◽

10.25259/sni_454_2020 ◽

2020 ◽

Vol 11 ◽

pp. 448

Author(s):

Aldo Jose Ferreira da Silva ◽

Carolina S. Magalhães e Silva ◽

Sonaly C. R. Mariano

Keyword(s):

Surgical Repair ◽

Rare Condition ◽

Consanguineous Marriage ◽

Primiparous Woman ◽

Craniofacial Anomalies ◽

Amniotic Band ◽

Amniotic Band Syndrome ◽

Prenatal Infection ◽

History Of ◽

Gestational Week

Background: Amniotic band syndrome (ABS) is a rare condition of controversial etiology that is associated with varying degrees of anomalies. This study reports a case of a newborn with ABS associated with double encephalocele in the frontal region. Case Description: A 29-year-old primiparous woman with no history of prenatal infection or consanguineous marriage had a cesarean section at gestational week 38, giving birth to a newborn who was well but had limb anomalies (constriction rings, amputations, and syndactyly) and craniofacial anomalies, mainly double frontal encephalocele. The patient underwent surgical repair and subsequent placement of a ventriculoperitoneal shunt. Conclusion: Studies clarifying this uncommon association with double encephalocele are limited. ABS associated with double encephalocele is rare and even more complex when associated with other anomalies. Thus, the conditions in such children are severe and require multidisciplinary monitoring.

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A Neonate with Amniotic Band Syndrome and Osteomyelitis

10.21203/rs.3.rs-80180/v1 ◽

2020 ◽

Author(s):

Nazanin Zafaranloo ◽

Fereshteh Moshfegh ◽

Parisa Mohagheghi ◽

Babak Beigi ◽

Elahe Nourozi

Keyword(s):

Congenital Malformations ◽

Chronic Osteomyelitis ◽

Amniotic Band ◽

Case Presentation ◽

Live Births ◽

Amniotic Band Syndrome ◽

Interprofessional Teamwork ◽

Males And Females ◽

Anatomic Region

Abstract Background: Amniotic band syndrome (ABS) comprises of a spectrum of congenital malformations involving the limbs more often, but any other anatomic region of fetus could be involved (1). Its prevalence has been reported to range from 0.19 to 8.1 per 10000 live births (2). There are different theories for explaining the etiology of amniotic bands, but it has been considered to have a multifactorial etiology. (2) Fetoscopic release of amniotic bands affecting one or more extremities can prevent limb loss or preserve limb function when distal fellow is still identifiable on preoperative ultrasound scans (3)(4). ABS occurs in 77% of fetuses with multiple anomalies (5). Both males and females are equally affected (6). Osteomyelitis in neonates is relatively uncommon, but burdened with an increased hospital stay and possible long‐term sequela if not diagnosed on time (18). The long bones are the most frequently affected sites (18).Case presentation: Here we are introducing a neonate with left upper extremity necrosis due to ABS which needed amputation and it was associated with severe chronic osteomyelitis.Conclusion: Amniotic band syndrome mostly involves the limbs. It is important to diagnose it as soon as possible, because with the interprofessional teamwork approach, an optimal patient result with fetoscopic or surgery procedures could be achieved.

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Placento-Cranial Adhesions in Amniotic Band Syndrome and the Role of Surgery in Their Management: An Unusual Case Presentation and Systematic Literature Review

Pediatric Neurosurgery ◽

10.1159/000433603 ◽

2015 ◽

Vol 50 (4) ◽

pp. 204-209 ◽

Cited By ~ 5

Author(s):

Guner Menekse ◽

Mustafa Kurthan Mert ◽

Burak Olmaz ◽

Tamer Celik ◽

Umit Sizmaz Celik ◽

...

Keyword(s):

Literature Review ◽

Systematic Literature Review ◽

Unusual Case ◽

Amniotic Band ◽

Case Presentation ◽

Amniotic Band Syndrome

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Amniotic band syndrome in a monochorionic diamniotic twin pregnancy after rupture of the dividing membrane in the early second trimester: A case report

BMC Pregnancy and Childbirth ◽

10.1186/s12884-021-03948-6 ◽

2021 ◽

Vol 21 (1) ◽

Author(s):

Mizuki Nakashima ◽

Takashi Iizuka ◽

Kyosuke Kagami ◽

Rena Yamazaki ◽

Masanori Ono ◽

...

Keyword(s):

Twin Pregnancy ◽

Three Dimensional ◽

Skin Defect ◽

Second Trimester ◽

Membranous Structure ◽

Amniotic Band ◽

Case Presentation ◽

Amniotic Band Syndrome ◽

Emergency Cesarean ◽

Umbilical Cords

Abstract Background Amniotic band syndrome is a rare phenomenon, but it can result in serious complications. We report herein our experience of amniotic band syndrome in a monochorionic diamniotic twin pregnancy where rupture of the dividing membrane occurred early in the second trimester. Case Presentation A 29-year-old nulliparous woman was referred to us for management of her monochorionic diamniotic twin pregnancy at 10 weeks of gestation. When we were unable to identify a dividing membrane at 15 weeks of gestation using two-dimensional ultrasonography, we used three-dimensional ultrasonography to confirm its absence. Both modalities showed that the left arm of baby B was swollen and attached to a membranous structure originating from the placenta at 18 weeks of gestation. Tangled umbilical cords were noted on magnetic resonance imaging at 18 weeks of gestation. Emergency cesarean delivery was performed at 30 weeks of gestation because of the nonreassuring fetal status of baby A. The left arm of baby B had a constrictive ring with a skin defect. Both neonates had an uncomplicated postnatal course and were discharged around 2 months after delivery. Conclusions Attention should be paid to the potential for amniotic band syndrome if rupture of the dividing membrane between twins is noted during early gestation.

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Congenital hyperinsulinism due to compound heterozygous mutations in ABCC8 responsive to diazoxide therapy

Journal of Pediatric Endocrinology and Metabolism ◽

10.1515/jpem-2019-0457 ◽

2020 ◽

Vol 33 (5) ◽

pp. 671-674

Author(s):

Tashunka Taylor-Miller ◽

Jayne Houghton ◽

Paul Munyard ◽

Yadlapalli Kumar ◽

Clinda Puvirajasinghe ◽

...

Keyword(s):

Insulin Secretion ◽

Compound Heterozygous ◽

Congenital Hyperinsulinism ◽

Β Cells ◽

Pancreatic Β Cells ◽

Newborn Period ◽

Case Presentation ◽

Male Baby ◽

Common Causes ◽

Compound Heterozygous Mutations

AbstractBackgroundCongenital hyperinsulinism (CHI), a condition characterized by dysregulation of insulin secretion from the pancreatic β cells, remains one of the most common causes of hyperinsulinemic, hypoketotic hypoglycemia in the newborn period. Mutations in ABCC8 and KCNJ11 constitute the majority of genetic forms of CHI.Case presentationA term macrosomic male baby, birth weight 4.81 kg, born to non-consanguineous parents, presented on day 1 of life with severe and persistent hypoglycemia. The biochemical investigations confirmed a diagnosis of CHI. Diazoxide was started and progressively increased to 15 mg/kg/day to maintain normoglycemia. Sequence analysis identified compound heterozygous mutations in ABCC8 c.4076C>T and c.4119+1G>A inherited from the unaffected father and mother, respectively. The mutations are reported pathogenic. The patient is currently 7 months old with a sustained response to diazoxide.ConclusionsBiallelic ABCC8 mutations are known to result in severe, diffuse, diazoxide-unresponsive hypoglycemia. We report a rare patient with CHI due to compound heterozygous mutations in ABCC8 responsive to diazoxide.

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