Beckwith-Wiedemann syndrome (BWS) is a rare genomic imprinting disorder that affects multiple systems. Major features can manifest as large birth weight, anterior abdominal wall defects, macroglossia, hyperinsulinism, organomegaly hemihypertrophy, and renal abnormalities. Characteristic facies manifested as midface hypoplasia, infraorbital creases, facial nevus simplex, and anterior linear ear lobe creases/posterior helical ear pits, with a predisposition to tumor development. This case report describes a Saudi infant born at 38+5 weeks gestation via elective cesarean section to a 33-year-old G3P2+0 mother, with a family history of type 1 diabetes and Down syndrome. Prenatal ultrasound revealed an anterior abdominal wall defect. Postnatally, the infant exhibited macrosomia, macroglossia, and omphalocele. Genetic testing confirmed paternal disomy of the imprinted region in 11p15.5. The infant underwent successful omphalocele repair but experienced respiratory distress, and seizures on the third day of life. Intubation, ventilation, and antiepileptic treatment were initiated. Subsequent investigations revealed right upper lobe collapse, neonatal seizures on electroencephalogram (EEG), and thin corpus callosum on magnetic resonance imaging (MRI). Feeding difficulties led to elective partial glossectomy at two months of age. During her hospital stay two days post surgery, the infant developed persistent hypoglycemia requiring high glucose infusion rates. Extensive endocrine evaluation revealed high insulin and cortisol levels. Subcutaneous octreotide was administered with minimal response. After 15 days of careful glucose tapering, the infant's blood glucose stabilized, reaching feeding targets. The patient was discharged with follow-up appointments. This comprehensive case highlights the complexity of managing severe relapsing hypoglycemia in an infant with BWS.
[This retracts the article DOI: 10.7759/cureus.19623.].
Pediatric convulsive seizure is common and represents a source of major concern and anxiety for the parents. Seizures can have a broad spectrum of etiologies in children, including metabolic, traumatic, developmental, and infectious causes. Depending on the clinical presentation, laboratory testing and neuroimaging may be indicated in the workup of the first unprovoked afebrile seizure. We present a case of a six-year-old boy who was brought to the emergency department by his mother after an episode of convulsion. She reported that he had jerky repetitive movements of all extremities that lasted around two minutes with spontaneous termination. The child did not have a febrile illness. The mother reported no history of similar episodes. Upon examination, the child appeared alert and conscious. No dysmorphic features were evident. Initial laboratory investigations were within the normal limits. The child underwent magnetic resonance imaging for the brain, which demonstrated a large well-defined extra-axial cystic lesion occupying most of the left hemisphere that is connected to the ventricular system. The lesion had no grey-matter lining and it strictly followed the cerebrospinal fluid in all sequences. Such finding represented the diagnosis of a giant left porencephalic cyst. Porencephaly is an extremely rare neurological anomaly that may present with pediatric seizures. Magnetic resonance imaging is the gold standard modality for the diagnosis of porencephaly. The case demonstrated that porencephaly can have a massive size in a patient with normal psychoneurological development.
