Categoría: Case Report
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Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review
ObjectiveTo report a rare case of concurrent Gitelman syndrome (GS) and Turner syndrome (TS) and explore their interplay in driving a complex clinical phenotype.DesignA single-case report with literature review.MethodsA 34-year-old woman was evaluated …
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Homozygous familial hypercholesterolemia, experience with Evinacumab treatment in two Mexican pediatric patients: case report
Homozygous familial hypercholesterolemia (HoFH) is a rare and life-threatening genetic disorder characterized by extremely elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, leading to accelerated atherosclerotic cardiovascular dis…
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Case Report: Novel homozygous pathogenic variant of the SPG20 gene causes the Troyer syndrome in China
Hereditary spastic paraplegia (HSP) comprises a group of neurodegenerative disorders characterized by progressive spasticity of the lower limbs. Troyer syndrome (MIM #275900), an autosomal recessive form of complicated HSP, was initially described in t…
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Case Report: Identification of two novel ALMS1 variants in a patient with a ciliopathy resembling Alström syndrome
BackgroundAlström syndrome (AS) is a rare autosomal recessive ciliopathy caused by biallelic pathogenic variants in the ALMS1 gene. The condition is characterized by a spectrum of clinical manifestations, including cone-rod dystrophy, sensorineural hea…
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Efficacy of long-acting growth hormone in Axenfeld-Rieger syndrome with a novel 3.824 Mb 4q25 deletion: a Case Report and systematic literature review
BackgroundAxenfeld-Rieger syndrome (ARS) is a multisystem disorder primarily caused by PITX2 mutations. While eye and dental anomalies are classic, the role of PITX2 as a dosage-sensitive regulator of the human growth axis remains clinically under-reco…
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A de novo heterozygous PSTPIP1 variant associated with PAPA syndrome: a Chinese case report and literature review
Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA) syndrome is a rare autosomal dominant hereditary autoinflammatory disease caused by PSTPIP1 gene variants and belongs to the PSTPIP1-associated inflammatory diseases (PAIDs). Its core clinical m…
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Case Report: clinical manifestations and imaging features associated with PANK2 c.940C>T variant in PKAN with symmetric basal ganglia calcification
BackgroundPantothenate kinase-associated neurodegeneration (PKAN) is the most common subtype of neurodegeneration with brain iron accumulation and is classically associated with pallidal iron deposition and the “eye-of-the-tiger” sign on MRI. However, …
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Case Report: Deciphering a de novo complex chromosomal rearrangement causing premature ovarian insufficiency, short stature, and mild intellectual disability using long-read sequencing
ObjectivePremature ovarian insufficiency (POI) with short stature and mild intellectual disability can have diverse genetic etiologies. We aimed to decipher the genetic basis of this complex phenotype in a 26-year-old female with a karyotype lacking an…
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Case report: novel DNAH11 compound heterozygous variants including an exon 30–54 duplication in a child with a highly suggestive primary ciliary dyskinesia phenotype
Primary ciliary dyskinesia (PCD) is a rare disorder characterized by dysfunction of motile cilia and chronic progressive respiratory disease, mianly inherited in an autosomal recessive manner. Biallelic variants in dynein axonemal heavy chain 11 (DNAH1…
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Glycogenin-1 deficiency: a case report and review of the literature
Pathogenic biallelic variants in GYG1, encoding for glycogenin-1, are associated with polyglucosan bodies myopathy characterized by muscle accumulation of deposits of amylopectin-like polysaccharides (MIM 616199). So far, only few cases (