kyphoscoliosis pregnancy

INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome...

Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease that is often associated with chronic respiratory failure. Few cases have described the antepartum and postpartum course in patients with severely compromised respiratory status. We present a case of a 24-year-old nullipara with a history of SMA type II complicated by surgically corrected kyphoscoliosis and severe restrictive lung disease. Her pregnancy was complicated by progressively worsening dyspnea resulting in increased use of noninvasive positive pressure ventilation, ultimately leading to indicated premature delivery at 28 weeks' gestation via cesarean section under general anesthesia...

BACKGROUND: Pregnant women with Marfan syndrome (MS) have a high risk of aortic dissection around delivery and their optimal management requires a multi-disciplinary approach, including proper cardio-obstetric care and adequate pain management during labor, which may be difficult due to the high prevalence of dural ectasia (DE) in these patients. OBJECTIVES: To evaluate the multidisciplinary management of MS patients during labor. METHODS: Nineteen pregnant women (31 pregnancies) with MS were followed by a multi-disciplinary team (cardiologist, obstetrician, anesthesiologist) prior to delivery...

Limb body wall complex (LBWC) is a rare, lethal malformation characterised by body wall defects, craniofacial and limb anomalies with or without various other organ anomalies. We report a case of dichorionic diamniotic twin pregnancy discordant for LBWC, diagnosed by ultrasound (US) and confirmed by MRI at 21 weeks' gestation, managed expectantly and delivered at 35 weeks by emergency caesarean section with a favourable outcome of the unaffected twin. The anomalous twin, who died soon after birth, had a sizeable thoracoabdominal wall defect, eviscerated liver and bowel loops attached to the placenta, short cord, ectopia cordis, lung hypoplasia, kyphoscoliosis, right upper limb amelia and left clubfoot with polydactyly...

Achondroplasia is a common form of dwarfism occurring in one out of 25,000 of live births. These patients present many problems during pregnancy and at the time of the delivery. The anaesthetist may also face several difficulties for both general and regional anaesthesia. The aim of this case report is to discuss various obstetric and anaesthetic considerations in such patients and ways to manage the difficulties. A 29-year-old woman expecting her first child, with achondroplasia -height of just 3'2'' (98 centimetres) - at 31 weeks of gestation, presented to our OPD for antenatal visit on May 15, 2018...

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks' gestation. The scan revealed typical features of body stalk anomaly and EC...

BACKGROUND: Body stalk anomaly is a generally lethal malformation of the thorax and/or abdomen. It is often associated with limb defects. The intrathoracic and abdominal organs lie outside the abdominal cavity. These are contained within a sac composed of amnioperitoneal membrane attached directly to the placenta. The umbilical cord may be totally absent or extremely shortened. Severe kyphoscoliosis is often present. This case is reported to highlight this rare malformation and its clinical presentation...

BACKGROUND: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations. OBJECTIVES: We determined the various presentations of EC diagnosed in our center between 2010 and 2017. RESULTS: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Three were from multiple pregnancies, and both twins had EC in one monochorionic-monoamniotic pregnancy. Abdominal wall defects were detected in six fetuses...

RATIONALE: Rod breakage during pregnancy and delivery has never been described in a patient who has undergone surgery for congenital scoliosis (CS). Here, we present an unusual but significant case of revision surgery. PATIENT CONCERNS: A 29-year-old woman presented with low back pain during pregnancy after posterior osteotomy, correction and fusion at T9 to L5 for CS. Radiographs during follow-up, 4 months after the patient gave birth, demonstrated rod breakage...

Tetrasomy 18p, characterized by the presence of four copies of the short arm of chromosome 18, is considered to occur with the nondisjunction in meiosis II after the errors in the meiotic and early postmeiotic mitotic division in the centromere. It is accompanied by various abnormalities including congenital heart defects, lower extremity abnormalities, micrognathia, high arched palate, kyphoscoliosis, microcephaly, myelomeningocele, hernia and renal anomalies. We present the first case of a dichorionic diamniotic twin pregnancy in which both fetuses were affected by tetrasomy 18p, but with discordant morphology, detected in one twin in the first but in the other in the second trimester...

OBJECTIVES: This study describes the prenatal diagnosis of body stalk anomaly (BSA) in a large series of affected pregnancies and proposes an algorithm for the differential diagnosis of abdominal wall defects in the first trimester. METHODS: This was a retrospective study of all the cases of BSA diagnosed in our tertiary unit between 2009 and 2015. In all cases, we performed a detailed ultrasound examination with particular emphasis on the appearance of the amniotic membrane and content of the amniotic sac and the coelomic cavity...

The management of cesarean section in kyphoscoliotic patient is challenging. The respiratory changes and increased metabolic demands due to pregnancy may compromise the limited respiratory reserves in such patients. Presence of other comorbidities like malaria and respiratory tract infection will further compromise the effective oxygenation. We report a case of kyphoscoliosis along with malaria and acute respiratory distress syndrome for urgent cesarean section.

Osteoporosis associated with pregnancy and lactation is a less commonly known condition and often overlooked. The prevalence, exact aetiology and its pathogenesis are unknown. It is commonly seen in first three months after delivery in primigravida. It is often undiagnosed because of it not suspected n and X-rays and densitometry are avoided if possible during pregnancy and lactation. If missed, it can lead to osteoporotic fractures and disability. In this paper, we report a case of a 24-year-old multigravida 4 months after pregnancy with multiple vertebral compression fractures and kyphoscoliosis...

BACKGROUND: The kyphoscoliotic type of the Ehlers-Danlos syndrome is an autosomal recessive connective tissue disorder characterized by soft extensible skin, laxity of joints, severe muscle hypotonia at birth, and kyphoscoliosis. PATIENT: We describe a 3-year-old girl with the kyphoscoliotic type of the Ehlers-Danlos syndrome whose parents were cousins. She was born with breech presentation by vaginal delivery at term after a normal pregnancy. At birth she manifested hypotonia and congenital kyphosis...

We describe the anaesthetic management using i-gel for airway maintenance in a patient with kyphoscoliosis presenting for emergency caesarean section due to fetal distress and scar tenderness. The patient had a history of previous caesarean section under general anaesthesia, and presently her cardiorespiratory status is stable. We used i-gel, the new supraglottic airway device, for maintaining the airway under intravenous anaesthesia using propofol.

Low back pain is a common musculoskeletal symptom in pregnancy that can present as lumbar pain or pelvic girdle pain, with significant physical and psychosocial implications. Pelvic girdle pain is more prevalent and results in greater disability than lumbar pain. It is possible to distinguish between these two conditions from a detailed history based on the site of the pain, its intensity, disability and pain provocation tests. Management of low back pain in pregnancy is conservative, with physical exercise for lumbar pain and minimising activities that exacerbate pain, analgesics and bed rest for pelvic girdle pain, as well as avoiding abduction beyond the pain-free zone in labour...

Pregnancy in women with achondroplasia presents major challenges for anaesthetists and obstetricians. We report the case of a woman with achondroplasia who underwent general anaesthesia for an elective caesarean section. She was 99cm in height and her condition was further complicated by severe kyphoscoliosis and previous back surgery. She was reviewed in the first trimester at the anaesthetic high-risk clinic. A multidisciplinary team was convened to plan her peripartum care. Because of increasing dyspnoea caesarean section was performed at 32weeks of gestation...

OBJECTIVES: The aim of this study was to evaluate the maternal and foetal outcomes and complications in teenage primigravida as compared to those in primigravidae who were aged 20-29 years. METHODS: Eighty teenage and one hundred sixty adult primigravidae were taken up for the study. Study duration was 24 months, from November 2010 to October 2012, at Rural Medical Research Centre in southern India. During this period, all cases were included in the study, irrespective of their booking statuses...

Restrictive lung disease is uncommon in pregnancy. We reviewed 15 pregnancies in 12 women with restrictive disease due to kyphoscoliosis, neuromuscular disease, or parenchymal lung disease. Median FVC was 40% predicted, and six women (50%) had an FVC < 1.0 L. In the 14 pregnancies in which at least two spirometry readings were available, FVC increased in three pregnancies, decreased in three, and remained stable in eight, with maximal changes of 0.4 L. Three women required supplemental oxygen, and one woman with neuromuscular disease required noninvasive ventilation...

During pregnancy several adaptations develop in response to the enhanced maternal and fetal metabolic needs. This review summarizes the major cardiorespiratory modifications of pregnancy as well as their consequences in chronic respiratory diseases such as restrictive ventilatory defects (post-tuberculosis pneumonectomy, kyphoscoliosis, neuromuscular disorders), asthma, cystic fibrosis, and pulmonary hypertension. It is important to recognize early the cardiorespiratory situations for which pregnancy is contraindicated or associated with a high risk of respiratory complications...