We present a rare case of transplacental-transmitted maternal melanoma to the placenta and foetus during the pregnancy of a 34-year-old woman. She was diagnosed with a melanoma at the age of 25, for which she was treated with chemotherapy. During her pregnancy, she presented with a recurrence of the disease and died 3 months after delivery. The 10-month-old female child presented with a recurrent retroauricular oedema on the left side. A trephination of mastoid apophysis followed. Multiple fragments of dark-coloured tissue were sent for histological examination, and the immunophenotype showed a melanocytic tumour in the mastoid. A full radiological assessment showed no sign of metastasis. The child remained without treatment. Complete remission of bone metastatic lesion has been confirmed by follow-up; now, the child is 4 years old, alive, and without evidence of disease.
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http://dx.doi.org/10.1155/2019/9641945 | DOI Listing |
Cureus
December 2024
Physical Medicine and Rehabilitation, Unidade Local de Saúde de Lisboa Ocidental, Lisbon, PRT.
Chondrodysplasia punctata (CP) is a rare skeletal dysplasia characterized by punctate calcifications in areas of endochondral ossification, with Conradi-Hünermann-Happle syndrome (CDPX2) being the most common form. This study presents a clinical case of a 10-month-old female child, diagnosed with CDPX2 following a referral from a neonatology department of a secondary hospital center to a genetics consultation at a tertiary hospital center in Portugal. Despite normal prenatal monitoring, postnatal evaluations revealed typical manifestations of the syndrome, including nasomaxillary hypoplasia, macrocephaly, and skeletal abnormalities confirmed through imaging.
View Article and Find Full Text PDFJBJS Case Connect
January 2025
Morristown Medical Center, Morristown, New Jersey.
Case: We outline the management of a 10-month-old girl with an Ewing sarcoma involving the entire radius. The patient was treated with neoadjuvant chemotherapy resulting in almost a complete response. A limb-sparing procedure was performed consisting of a radical resection of the entire radius and centralization of the carpus to the ulna.
View Article and Find Full Text PDFRadiology
December 2024
From the Departments of Pediatric Imaging (G.B.) and Pediatric Neurology (A.A., A.M.A.), Hôpital Universitaire de Bruxelles, Queen Fabiola Children's University Hospital, Université Libre de Bruxelles, Brussels, Belgium.
A 10-month-old female infant, who was second-born, was referred for progressive macrocephaly, axial hypotonia, developmental delay, and limb stiffness. Birth had occurred at 41 weeks, after an uneventful pregnancy and delivery, to nonconsanguineous parents. Noticeably, the child could not hold her head up at 4 months or sit at 10 months of age.
View Article and Find Full Text PDFNeurol Sci
December 2024
Department of Molecular Medicine, Faculty of Medicine and Cardiovascular Diseases Research Center, Birjand University of Medical Sciences, Birjand, Iran.
Introduction: Galloway-Mowat syndrome type 3 (GAMOS3) is a rare genetic disorder with renal and neurological complications caused by pathogenic variants in the OSGEP gene. Here, we report the molecular basis and clinical features in an Iranian family.
Methods: Our proband, a 10-month-old female patient, presented with microcephaly, global developmental delay, lower limb spasticity, facial dysmorphisms, and renal tubulopathy.
JIMD Rep
September 2024
Department of Rare Diseases, Institute of Graduate Studies in Health Sciences Istanbul University Istanbul Turkey.
Alpha-methylacyl-CoA-racemase (AMACR) deficiency (MIM#604489) is a peroxisomal disorder resulting in the accumulation of pristanic acid, dihydroxycholestanoic acid (DHCA), and trihydroxycholestanoic acid (THCA), with variable clinical features and age of onset from infancy to late adulthood. The purpose of this report is to define clinical variations and follow-up data in AMACR deficiency emphasizing treatment with a review of cases reported in the literature. Here, four patients, from two families, diagnosed with AMACR deficiency and showing phenotypic heterogeneity are presented.
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