Congenital infantile fibrosarcoma (CIF) is a rare tumor in childhood. The 5-year survival rate for CIFs is high and has been reported between 84% and 93%, but limb-amputation/disarticulation is still a major problem. We report the case of a male newborn with a mass in his right foot. X-ray and MRI revealed a mass destroying all tarsal, metatarsal, and phalangeal bones. The patient was treated only with VAC chemotherapy and is able to walk normally.
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http://dx.doi.org/10.1002/pbc.22389 | DOI Listing |
Genes Chromosomes Cancer
January 2025
Pathology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Infantile myofibromatosis (IM) comprises a wide clinical spectrum, ranging from solitary or multicentric lesions to generalized life-threatening forms. IM is mostly linked to germline or somatic heterozygous mutations in the PDGFRβ tyrosine kinase, encoded by the PDGFRB gene. Treatments for IM range from wait and see approach to systemic chemotherapy, according to the clinical context.
View Article and Find Full Text PDFFront Pharmacol
January 2025
Respiratory Department II, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an autosomal dominant disorder caused by mutations in the gene, resulting in variable clinical manifestation and multi-organ dysfunction. Interstitial lung disease (ILD) is a rare phenotype of this condition. We describe a rare infant case of an 8-month-old boy who presented with progressively worsening dyspnea, along with intermittent episodes of respiratory distress and cyanosis since birth.
View Article and Find Full Text PDFChilds Nerv Syst
January 2025
Division of Neurosurgery, Department of Surgery, National University Hospital of Singapore, 5 Lower Kent Ridge Rd, Singapore, 119074, Singapore.
Congenital infantile brainstem high-grade gliomas (HGGs) are extremely rare. Given the limited literature characterizing this disease, management of these tumors remains challenging. Brainstem HGGs are generally associated with extremely poor prognosis.
View Article and Find Full Text PDFEpilepsy Behav Rep
March 2025
Section of Pediatric Neurology, Department of Pediatrics, The University of Chicago, Chicago, IL, United States.
Dynein Cytoplasmic 1 Heavy chain 1 (-related disorders are a spectrum of conditions including neurodevelopmental disorders, congenital brain malformations, and neuromuscular diseases. These clinical features may co-occur, with four main disease entities including epilepsy with developmental epileptic encephalopathy such as infantile epileptic spasms syndrome (IESS) and Lennox-Gastaut syndrome (LGS), axonal Charcot-Marie-Tooth disease type 2O, spinal muscular atrophy with lower extremity-predominance (SMALED), and congenital cortical malformations. Epilepsy associated with this disorder often becomes drug-resistant and requires multiple medications and, in some cases, non-pharmacological treatments.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Paediatric Department, SJOG Midland Public Hospital, Midland, Western Australia, Australia.
Infantile haemangiomas are a common presentation in infants within the first few months of life. The majority of haemangiomas are benign; however, large haemangiomas (≥5 cm), especially those involving the face, may indicate a more serious underlying neurocutaneous disorder known as PHACE (Posterior fossa malformations, Haemangioma, Arterial anomalies, Coarctation of the aorta/Cardiac defects and Eye abnormalities) syndrome. The authors report an unusual case of possible PHACE syndrome in a young male toddler with a large facial haemangioma.
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