Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia

Melekoğlu, Rauf; Çelik, Ebru; Eraslan, Sevil

doi:10.1136/bcr-2017-221238

Cited by 12 publications

(6 citation statements)

References 11 publications

(7 reference statements)

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“…There is a risk that the disease is inherited in an autosomal dominant manner, so there is a possibility that the fetus will have skeletal dysplasia, macrocephaly, polyhydramnios, and fetal distress. 4 The diagnosis in both patients (maternal) are assessed through a medical history, physical examination, and orthopedist consultation. Since birth, the first maternal had a disproportionate short stature, without the history of fractures, goiter, malnutrition, and mental retardation.…”

Section: Discussionmentioning

confidence: 99%

Challenging Management for Pregnancy and Delivery in Women with Achondroplasia and Pesudoachondroplasia

Prabowo¹,

Gumilar²

2022

Journal of South Asian Federation of Obstetrics and Gynaecology

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Background: Achondroplasia is a rare genetic disease of bone growth with an incidence of 1:20,000 live births which is characterized by short stature disproportionate body, shortening of long bones, macrocephaly, and kyphoscoliosis. While pseudoachondroplasia is caused by an autosomal dominant mutation in the cartilage oligomeric matrix protein (COMP). Due to the rarity of this condition and its adverse impact on the obstetrical outcome, we find it interesting to report two cases of achondroplasia and pseudoachondroplasia with pregnancy. Case description: The first case was a 24-year-old woman with achondroplasia (patient's height was 116 cm) primigravida, who was referred at her 36-37 weeks of gestation. Ultrasound examination of the fetus revealed micromelia skeletal dysplasia. At 37-38 weeks of gestation, the patient underwent a cesarean section under the subarachnoid block (SAB) regional anesthesia because of the complication of cephalopelvic disproportion (CPD). The baby had a relatively large head circumference, frontal bossing, disproportionate short limbs, and trident hand appearance which is pathognomonic of achondroplasia. The second case was a 26-year-old woman with pseudoachondroplasia (patient's height was 127 cm) multigravida with a history of one abortion, who was referred at her 35-36 weeks of gestation. The patient underwent elective cesarean section with SAB regional anesthesia and the baby looked physically not inheriting maternal abnormalities. Conclusion: Achondroplasia increases maternal and fetal obstetric complications; thus, requiring prenatal counseling, comprehensive risk evaluation, and multidisciplinary team management of anesthesia, obstetrics, and neonatology.

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Section: Discussionmentioning

confidence: 99%

Challenging Management for Pregnancy and Delivery in Women with Achondroplasia and Pesudoachondroplasia

Prabowo¹,

Gumilar²

2022

Journal of South Asian Federation of Obstetrics and Gynaecology

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“…Ten reports described parturients with achondroplasia who underwent cesarean section under neuraxial anesthesia (Table 1). 2,9,[12][13][14][15][16][17][18][19] Three patients underwent cesarean section under epidural anesthesia, four underwent spinal anesthesia, and three were under combined spinalepidural anesthesia. Most of these patients suffered from a spinal deformity.…”

Section: Discussionmentioning

confidence: 99%

Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient with achondroplasia

2021

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Achondroplasia is a type of disproportionate dwarfism with short limbs and a normal-sized torso. This condition results in a potential spinal abnormality and a difficult airway may increase the anesthetic risk, not only in neuraxial anesthesia, but also in general anesthesia. We report a 25-year-old primigravida with achondroplasia who underwent cesarean section under epidural anesthesia with the assistance of real-time ultrasound guidance. A total dose of 17 mL 2% lidocaine with 7.5 μg sufentanil was administered via epidural catheter intermittently. The level of anesthesia reached T4. No other anesthetic was administered during the operation and the procedure was uneventful. The mother and her newborn were routinely discharged without any adverse events. During the follow-up at 10 months postoperatively, the patient did not have any discomfort. We suggest that titrated epidural anesthesia at the time of real-time ultrasound-guidance is a safe and effective epidural anesthesia for patients with achondroplasia.

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“…Achondroplasia is a relatively infrequent disorder, but various problems related to this disorder and a few experiences associated with treatment have been reported 4)9)17)18)24). Based on the publication of several clinical trials,1)2)7)14)22) the endovascular treatment of acute ischemic stroke (AIS) has been regarded as a standard treatment and its benefits have been reported in most of the patients regardless of various conditions 8)19).…”

Section: Discussionmentioning

confidence: 99%

Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report

Cho

Kim

et al. 2019

J Cerebrovasc Endovasc Neurosurg

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BackgroundAchondroplasia is one of the most common types of dwarfism and is inherited as an autosomal dominant disease. The patients with achondroplasia suffer from various complications such as craniofacial, central nervous system, spinal, respiratory and cardiac anomalies.Case DescriptionWe report a case of a 35-year-old man with achondroplasia who visited the emergency room with right hemiplegia and aphasia within 6 hours after onset. An Initial CT angiography showed the total occlusion of a left internal cerebral artery due to the thrombus. We treated the patient with endovascular thrombectomy using “Solumbra technique” with balloon guiding catheter. The procedure was successful and result was completely recanalized with Thrombolysis in Cerebral Infarction (TICI) scale 3 and the weakness also improved from grade II to grade IV.ConclusionAcute ischemic stroke patients with achondroplasia could be treated with mechanical thrombectomy.

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Successful obstetric and anaesthetic management of a pregnant woman with achondroplasia

Cited by 12 publications

References 11 publications

Challenging Management for Pregnancy and Delivery in Women with Achondroplasia and Pesudoachondroplasia

Challenging Management for Pregnancy and Delivery in Women with Achondroplasia and Pesudoachondroplasia

Real-time ultrasound-guided epidural anesthesia for cesarean section in a parturient with achondroplasia

Successful Mechanical Thrombectomy Using Solumbra Technique In a 35-year-old Man With Achondroplasia: a case report

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