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Management of a Pregnant Patient with Cri-du-Chat Syndrome and Pseudohypoparathyroidism Type Ib
Abstract Number: F1D-3
Abstract Type: Case Report/Case Series
We report the first case describing a parturient with Cri-du-Chat (CDC) syndrome and pseudohypoparathyroidism (PHP) type Ib. A 37 year-old female G1P0 with a history of CDC and PHP Ib with secondary hyperparathyroidism was admitted for primary cesarean delivery (CD) at 37 weeks. Her history was notable for a unique cry as a neonate, persistent hoarseness, and gross motor delays in childhood.
A primary CD was indicated for hypertension and a breech presentation. Antenatally, the fetus had also been diagnosed with CDC. A spinal and combined spinal-epidural (CSE) were attempted unsuccessfully at multiple levels. Ultimately, an epidural catheter was placed and functioned well throughout the CD.
CDC syndrome is a chromosomal disorder caused by a deletion in the short arm of chromosome 5 with an incidence of 1:50,000. The characteristic clinical feature is a high-pitched cat-like cry. Main anesthetic concerns are related to abnormalities of the airway, heart, CNS and musculoskeletal systems.
The airways of patients with CDC warrant careful consideration. Laryngomalacia, abnormalities of the epiglottis (curved, floppy) and mandibular microretrognathia are common. This may make airway manipulation for general anesthesia more challenging. Other clinical findings including scoliosis (which may have contributed to the difficult epidural placement in this patient) and mental retardation (which could impede communication) may preclude use of a regional anesthetic. Congenital heart disease is present in approximately 30% of patients, predominately patent ductus arteriosus and septal defects.
This patient’s history was further complicated by PHP Ib, a rare disorder with approximately 100 cases reported in the literature. PHP Ib is characterized by resistance to parathyroid hormone (PTH) resulting in hypocalcemia with elevated serum phosphate and PTH. The underlying pathophysiology is a defect in the PTH-receptor, leading to end organ resistance to PTH. The key anesthetic concern is the potential for serum calcium derangements and sequelae, such as parasthesias, seizures, and arrhythmia due to QTc prolongation. This is particularly relevant during pregnancy, as the fetus draws calcium from the maternal circulation, potentially exacerbating underlying hypocalcemia. Furthermore, hyperventilation in labor may precipitate hypocalcemia and should be avoided. Serum calcium should be monitored carefully throughout pregnancy; pre-eclamptic patients requiring IV magnesium warrant additional vigilance, as magnesium may contribute to hypocalcemia.
The purpose of this case is to highlight anesthetic challenges that may occur in parturients with CDC and PHP. Neuraxial anesthesia was preferred for this patient as it avoided airway manipulation. In partuients with CDC and severe scoliosis, remifentanil infusion or inhaled nitrous oxide may be considered.