Spontaneous chorioamniotic membrane separation (CMS) diagnosed in the third trimester is rare, and its short-term clinical course remains poorly characterized. We report a case of late-onset CMS with rapid progression to preterm premature rupture of membranes (PPROM).
Ependymomas are rare glial tumors arising from ependymal cells. Most fetal ependymomas reported in the literature are identified in the third trimester. This report describes prenatal detection of an occipital encephalocele at 14 weeks’ gestation with subsequent post-termination histopathological identification of ependymoma.
We report an infant who presented with persistent pulmonary hypertension of the newborn (PPHN) to highlight this was likely due to congenital hypothyroidism.
Objectives:X-linked chondrodysplasia punctata type 1 (CDPX1) is a rare skeletal dysplasia caused by pathogenic variants in ARSL (Arylsulfatase L), formerly known as ARSE (Arylsulfatase E), resulting in defective arylsulfatase E activity and abnormal cartilage matrix formation. It is typically defined by stippled epiphyses, nasomaxillary hypoplasia, and brachytelephalangy, but the condition has phenotypic variability. We report an infant with a pathogenic ARSL variant (NM_000047.3:c.1442C>T; p.Thr481Met) to highlight an exceptionally severe and complex phenotype. Case presentation:A male infant was born at term following a caesarean section. A narrow sacral spine, a flat facial profile and an absent nasal bridge had been detected antenatally. He developed refractory respiratory failure with recurrent lung collapse and pneumothoraces in the first 3 months, associated with diffuse tracheobronchial calcification and progressive high cervical myelopathy on radiological evaluation. From 5 months of age, he experienced episodes of abrupt cardiorespiratory arrest linked to movement. Stabilisation of the neck markedly reduced those events temporarily, implicating dynamic cervical cord compression as the precipitating mechanism. He required prolonged mechanical ventilation, had recurrent infections and progressive neurological impairment and hydrocephalus warranting long term respiratory and neurosurgical follow up. This case represents one of the first descriptions of movement-related autonomic reflex asystole secondary to cervical cord compromise in ARSL-related CDPX1. Conclusions:Our report broadens the clinical spectrum of CDPX1 to include dynamic cervical cord compression with potential secondary autonomic cardiac events. Early genetic confirmation, anticipatory airway and spinal imaging, extensive respiratory and multidisciplinary management are essential for early recognition, prognostication and prevention of potentially fatal outcomes in severe forms of this rare disorder.
Objectives:Advanced primary abdominal pregnancy, an extremely rare condition, poses diagnostic challenges and carries a risk of serious maternal and perinatal complications. In the absence of evidence-based protocols, current management approaches are predominantly guided by anecdotal reports and individual clinical judgment. We report a case of primary advanced abdominal pregnancy in a primigravida. Case presentation:A 26-year-old asymptomatic woman at 31 + 6/7 weeks' gestation was referred for routine third-trimester ultrasonography, which revealed a non-gravid uterus, a viable extrauterine fetus, oligohydramnios, and placental invasion of the right pelvic wall. Magnetic resonance imaging confirmed these findings and demonstrated placental compression of the right ureter with moderate hydroureteronephrosis. A multidisciplinary team was assembled. At 32 + 6/7 weeks, cystoscopic-guided ureteric stenting followed by midline laparotomy resulted in the delivery of a live female neonate. Due to extensive placental vascularity and critical attachments, the placenta was left in situ, and postoperative methotrexate alternating with folinic acid was administered to promote placental involution. The postoperative course was uneventful. Serial follow-up imaging showed progressive placental regression. Conclusions:Even when facing a rare, challenging condition, favorable maternal and neonatal outcomes can be achieved through accurate pre-operative diagnosis, early involvement of a multidisciplinary team, thoughtful intra-operative decision-making, and meticulous post-operative care.
