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512 articles
February 20268
Outer nuclear layer hyperreflectivity as an optical coherence tomography finding in Danon disease.
To describe an optical coherence tomography (OCT) finding that is highly prevalent in Danon disease.
A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.
A 5-month-old infant presented with jerking movements during a car ride, followed by generalized tonic-clonic seizures and recurrent kinesigenic posturing.
IRF6 Gene Polymorphisms Influence the Susceptibility of Nonsyndromic Cleft Lips With or Without Palate: A MOOSE-Compliant Meta-Analysis.
This MOOSE-compliant meta-analysis pooled 53 published case-control studies to assess six IRF6 polymorphisms and susceptibility to nonsyndromic cleft lip with or without palate (CL ± P) across ethnic groups.
Familial Ascending Aortic Aneurysm in a Child With a Pathologic Variant of the Lysyl Oxidase Gene.
A five-year-old boy presented to the emergency department with upper respiratory symptoms. Chest radiography unexpectedly showed marked mediastinal enlargement, and further evaluation identified a 9-cm thoracic aortic…
Genetic Association of RXFP2 T222P Variant With Cryptorchidism: A Meta-Analytic Study.
This systematic review and meta-analysis assessed whether the RXFP2 T222P variant is associated with cryptorchidism. It included five studies with genotype data from case and control populations.
GNE-related thrombocytopenia (Thrombocytopenia-12) in a 3-month-old from a Middle Eastern background infant: a case report.
A 3-month-old infant of Middle Eastern background presented with severe thrombocytopenia (platelet count 6,000/μL) and neutropenia.
Organizing Pneumonia in a Patient with Pulmonary Transthyretin Amyloidosis.
An 86-year-old retired tunnel construction worker with pleural plaques and chronic pleural effusion was evaluated for newly developed pulmonary infiltrates.
Adult-onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP) Associated with the CSF1R p. (Ile843Thr) Variant: Clinical, Imaging, and Molecular Characterization.
An adult presented with progressive cognitive and behavioral decline, followed by motor dysfunction. MRI showed predominantly frontoparietal white matter lesions and thinning of the corpus callosum, raising concern for…
January 20265
Efficacy of Dravet Syndrome Treatments in a Subset of Individuals with 2q24.3 Deletion: A-5 Patient Case Series.
The report qualitatively assessed treatment responses in five individuals with Dravet syndrome and 2q24.3 microdeletions involving SCN1A and other voltage-gated sodium-channel genes.
A novel homozygous variant of AURKC causes macrozoospermia in a Chinese family.
Macrozoospermia is a rare cause of male infertility characterized by a high proportion of sperm with large, irregular heads.
Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.
Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus.
Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
A 14-year-old with Glanzmann thrombasthenia had asymptomatic radial osteoporosis without identified secondary causes. Platelet aggregation testing and flow cytometry supported type I disease, with CD41/CD61 expression…
Rapid Regression of Myocardial Hypertrophy with First-Line Avalglucosidase Alfa in Infantile-Onset Pompe Disease: A Case Report.
A male infant had myocardial hypertrophy on neonatal echocardiography without skeletal muscle weakness. By 3 months, he had feeding difficulty, severe cardiomegaly (left ventricular mass index [LVMI] 419.5 g/m²; Z-score…
December 20256
Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.
This systematic review and meta-analysis assessed the diagnostic utility of whole exome sequencing (WES), chromosomal microarray (CMA), and whole genome sequencing in children with unexplained global developmental delay…
Identification of BAP1 Germline Mutation in a Pediatric Patient With Skull Base Meningioma.
An adolescent girl presented with a rare skull-base tumor whose imaging appearance suggested schwannoma. Testing for germline variants in NF2, LZTR1, and SMARCB1 was negative.
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variants.
Four Argentine children with PDHA1-related pyruvate dehydrogenase complex deficiency had presentations spanning severe neonatal encephalopathy with central apneas to slowly progressive neurologic disease in childhood.
Navigating the Uncommon: "Juvenile-Onset Huntington Disease".
A 12-year-old girl presented with stroke and progressive neurocognitive decline, followed by choreo-athetoid movements, worsening dystonia, and epilepsy.
Novel de novo CLCN7 mutation in refractory osteopetrosis-related osteomyelitis: A case report and multidisciplinary therapeutic dilemmas.
A 57-year-old man with ADO-II presented with refractory mandibular osteomyelitis, facial swelling, and trismus. Imaging showed mandibular osteolysis alongside “sandwich vertebrae” and “Erlenmeyer flask” deformities…
Acute liver failure as the first symptom of childhood systemic lupus erythematosus: a case report and review of the literature.
A 9-year-old Chinese girl presented with acute liver failure as the initial manifestation of systemic lupus erythematosus (SLE), without typical skin or joint features.
November 20252
Catch-Up Growth in Syndromic Robin Sequence: A Systematic Review.
ObjectiveThe triad of micrognathia, glossoptosis, and airway obstruction defines Robin sequence (RS). Syndromic RS accounts for about 60% of cases, but whether mandibular "catch-up" growth occurs in these cases remains…
Unlocking Rare Diagnoses: The Essential Role of Molecular Techniques in Hemoglobin Agrinio. A Case Report.
A girl had anemia from birth and high transfusion needs. Evaluation led to a recent diagnosis of homozygous Hb Agrinio, a nondeletional alpha-thalassemia variant caused by an α2-globin substitution (α29(B10) Leu→Pro…
September 20251
August 20252
Reversed cortico-medullary differentiation in kidneys on fetal magnetic resonance imaging - a case series.
Three unrelated fetuses had hyperechoic kidneys on ultrasound and reversed signal intensity between the renal cortex and pyramids on fetal MRI sequences.
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene.
Two adult patients developed cerebellar syndrome, scanned speech and exercise intolerance beginning in the second or third decade, followed by muscle weakness and impaired gait coordination.
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