Case Report: A 3-year-old girl was transferred to our hospital with a history of persistent open anterior fontanel. The patient was conscious and had no neurological deficits. Upon arrival, the patient appeared normal for her age and had no defects or anomalies other than the aforementioned lesion. The initial skull X-ray and CT were significant for a 20-mm open anterior fontanel. All other findings were normal.
Outcome: After a follow-up period of 1.5 years, the anterior fontanel was still open, with a slight decrease in size to 15 mm. Delayed closure of the anterior fontanel without intracranial hypertension is associated with various disorders. The pathogenesis of the current patient's condition is unclear. Due to the patient's normal appearance and stable neurological status, we will follow her conservatively for any changes in condition.
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http://dx.doi.org/10.1007/s00381-004-0918-2 | DOI Listing |
J Clin Med
December 2024
Division of Endocrinology, Diabetes and Metabolism, ENDO-ERN Center for Rare Pediatric Endocrine Disorders, First Department of Pediatrics, Medical School, National and Kapodistrian University of Athens, Aghia Sophia Children's Hospital, 11527 Athens, Greece.
Kenny-Caffey syndrome 2 (KCS2) is a rare cause of hypoparathyroidism, inherited in an autosomal dominant mode, resulting from pathogenic variants of the gene, which is implicated in intracellular pathways regulating parathormone (PTH) synthesis and skeletal and parathyroid gland development. : The case of a boy is reported, presenting with the characteristic and newly identified clinical, biochemical, radiological, and genetic abnormalities of KCS2. : The proband had noticeable dysmorphic features, and the closure of the anterior fontanel was delayed until the age of 4 years.
View Article and Find Full Text PDFDevelopment
January 2025
Center for Craniofacial Molecular Biology, Department of Biomedical Sciences, Ostrow School of Dentistry, University of Southern California, Los Angeles, CA 90033, USA.
The calvarial bones of the infant skull are linked by transient fibrous joints known as sutures and fontanelles, which are essential for skull compression during birth and expansion during postnatal brain growth. Genetic conditions caused by pathogenic variants in FGFR2, such as Apert, Pfeiffer, and Crouzon syndromes, result in calvarial deformities due to premature suture fusion and a persistently open anterior fontanelle (AF). In this study, we investigated how Fgfr2 regulates AF closure by leveraging mouse genetics and single-cell transcriptomics.
View Article and Find Full Text PDFBMC Pediatr
December 2024
Department of Pediatric and Neonatal Intensive Care, University Children's Hospital, Belgrade, 11000, Serbia.
Background: Familial chylomicronemia syndrome (FCS) is a rare genetic disorder with heterogeneous presentation, where acute encephalopathy is rarely described in literature. Therefore, initial neurologic symptoms could make the diagnosis and treatment challenging.
Case Presentation: A four-month-old male infant presented with acute encephalopathy, vomiting, bulging fontanel, decreased appetite and failure to thrive.
Childs Nerv Syst
December 2024
Department of Neurosurgery, Children's Hospital Colorado, Aurora, CO, USA.
Objective: Subdural fluid collection is a common neurosurgical condition in the pediatric population. Patients requiring surgical intervention have historically been managed with subdural drains, subdural-subgaleal shunting, subdural-peritoneal shunting, and mini-craniotomies. An alternative procedure for patients with an open anterior fontanelle is bedside transfontanelle drainage.
View Article and Find Full Text PDFChilds Nerv Syst
December 2024
Department of Infectious Diseases, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, China.
This case report presents a novel treatment approach for refractory purulent meningitis in a 1-month-old infant caused by penicillin-sensitive group B Streptococcus. Despite initial treatment with intravenous antibiotics, including penicillin and vancomycin, the infant experienced persistent symptoms and bilateral subdural effusions. Conventional therapies failed to resolve these issues, leading to the use of a new technique: subarachnoid puncture via the anterior fontanelle combined with intrathecal vancomycin administration.
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