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.
Objectives:This work aims to characterize the clinical manifestations and diagnostic challenges associated with pregnancies affected by congenital myotonic dystrophy through a detailed case report of an individual seen in our center and a comprehensive case series overview. Case presentation:A 33-year-old woman presented at 33 weeks-gestation with symptomatic severe polyhydramnios (AFI 55.2) and an otherwise uncomplicated prenatal course with no anomalies on ultrasound. She underwent amnioreduction, which initially revealed normal genetic testing results (46,XX karyotype and normal microarray). At 34 weeks, she underwent repeat cesarean delivery for new-onset non-immune hydrops fetalis. Because of the hydrops, severe hypotonia, and respiratory distress requiring intubation of the neonate, further genetic testing was performed and was positive for congenital myotonic dystrophy (1,880 CTG repeats in DMPK). This testing also indicated that the mother had >200 repeats, consistent with myotonic dystrophy type 1. Conclusions:Idiopathic polyhydramnios and non-immune hydrops fetalis, even in the absence of structural anomalies, should prompt consideration of neuromuscular conditions such as congenital myotonic dystrophy in the differential diagnosis.
Objectives:Inborn errors of metabolism (IEMs) result from pathogenic variants in genes involved in essential metabolic pathways. Newborn screening (NBS) using tandem mass spectrometry (MS/MS) has facilitated the early detection and diagnosis of IEMs, enabling timely medical intervention and improved clinical outcomes. This study introduces a novel pathogenic variant in the BCKDHB gene in a case of maple syrup urine disease (MSUD) diagnosed through the NBS program in northern Iran. Case presentation:Dried blood spot samples from newborns were analyzed using MS/MS (Shimadzu LCMS-8045, Japan), which identified a consanguineous case suspected of having MSUD. The confirmatory HPLC test revealed elevated levels of threonine, valine, isoleucine, and allo-isoleucine, indicating MSUD. Genetic analysis identified a homozygous frameshift variant, c.773dupT (NM_183050.4, p.Leu260ThrfsTer12), in exon 7 of the BCKDHB gene. Conclusions:The identification of novel pathogenic variants in MSUD patients, along with phenotype-genotype correlations, may predict the clinical severity of the variant and offer prognostic value, particularly for individuals with this specific variant.
