Categoría: Case Report
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Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up
Type 1 Bartter syndrome (BS), a rare autosomal recessive salt-losing tubulopathy, classically presents with hyponatremia, hypochloremia, hypokalemic alkalosis, and hyperreninemic hyperaldosteronism. We report a male patient with the atypical presentati…
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Case Report: developmental delay and intellectual disability linked to a maternally inherited derivative chromosome 3 from a t(3;8) translocation
Chromosomes 3 and 8 harbor genes essential for neurodevelopment, skeletal formation, and metabolic regulation. We report a case of two half-siblings with neurodevelopmental delay and intellectual disability who inherited a derivative chromosome 3 from …
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Case Report: Mild BRIC-like cholestasis despite a gross USP53 deletion—novel findings and literature review
We report a pediatric case of cholestatic liver disease associated with two novel compound heterozygous variants in the USP53 gene: a truncating c.1219A>T (p.Lys407*) variant inherited from the father and a maternally inherited gross deletion involving…
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MAPT mutation-induced behavioral variant frontotemporal dementia in an Asian patient: a multimodal biomarker case report resolving diagnostic challenges with Alzheimer’s disease
BackgroundThe clinical phenotypic overlap between frontotemporal dementia (FTD) and Alzheimer’s disease (AD) frequently leads to misdiagnosis, while biomarkers (e.g., Aβ-PET) and genetic testing provide critical differential diagnostic evidence. Althou…
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Case Report: Identification and functional characterization of a novel heterozygous splice-donor (c.647+1G>A) site mutation in the SPTB gene that causes hereditary spherocytosis with hemolytic anemia
ObjectiveHereditary spherocytosis (HS) is an inherited disorder characterized by spherical erythrocytes and abnormalities of several erythrocyte membrane proteins with extreme genotypic and phenotypic heterogeneity. HS patients were clinically diagnose…
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Familial Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome: a case report
ObjectiveThis study investigates a rare case of Xq27.1q28 duplication arising from a maternal interarm forward insertion of the X chromosome, focusing on prenatal diagnosis, family analysis, and genetic counseling for a pregnant woman with repeated adv…
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Case Report: Compound heterozygous CEP152 c.3346-5T>C variant and chr15 deletion causing recurrent MCPH–SCKS in a Chinese pregnant woman across two consecutive pregnancies
BackgroundPrimary autosomal recessive microcephaly and Seckel syndrome spectrum (MCPH–SCKS) disorders are a group of autosomal recessive conditions characterized by severe growth retardation and neurodevelopmental impairment. CEP152 variants are establ…
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Case Report: Whole-exome sequencing revealed a de novo variant in SETBP1 gene in a Chinese family with developmental delay
BackgroundThis study aims to characterize the potential genetic etiologies in children with developmental delay through whole-exome sequencing (WES) providing assistance for clinical diagnosis, genetic counseling, and reproductive guidance.MethodsWES w…
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Case Report: autosomal dominant distal motor neuropathy as a new phenotype of KIF21A-related disorders
Heterozygous missense variants in the KIF21A gene are best known to cause congenital fibrosis of the extraocular muscles. A recent report by Borja et al., 2025 suggested that the KIF21A gene may also be associated with syndromic phenotype, including pe…
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A rare case of de novo 20p12.3 microdeletion syndrome in a nine-year-old female: case report and literature review
Chromosomal deletion syndromes are common worldwide. However, one rare condition that distinguishes a limited number of reported cases and variable phenotypes is 20p12.3 microdeletion syndrome. This case report describes a nine-year-old girl diagnosed …