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Important medical research and remarkable case reports worth knowing.

Selected from high-relevance medical literature published in the last 14 days.

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Case ReportMedical GeneticsOpen access

Clinical manifestations of Armfield syndrome in females with heterozygous FAM50A variants and skewed X-chromosome inactivation.

A Spanish female patient presented with macrocephaly, global developmental delay, and leukoencephalopathy. Whole-exome sequencing identified a novel de novo heterozygous FAM50A variant, c.905 A > T (p.His302Leu).

Neurol SciOct 24, 2026Read case
Case ReportPediatricsOpen access

Varicella zoster vasculopathy presenting as bilateral subdural haematoma in an infant: case report of a rare case and literature review.

A 6-month-old boy developed chickenpox with fever, irritability, and a vesicular rash. Although the rash and fever resolved, he had persistent irritability, poor feeding, intermittent vomiting, developmental regression…

Childs Nerv SystOct 24, 2026Read case
Case ReportPediatricsOpen access

Successful management of long-term venovenous ECMO for severe PARDS in a child with acute lymphoblastic leukemia.

A 5-year-old boy with low-risk B-cell acute lymphoblastic leukemia developed severe, refractory pediatric acute respiratory distress syndrome during induction therapy, with profound hypoxemia.

J Artif OrgansOct 13, 2026Read case
Case ReportNeurosurgeryOpen access

Addressing unilateral lambdoid craniosynostosis using endoscopic suturectomy and barrel-stave osteotomies: surgical technique and literature review.

A healthy 2-month-old boy presented with features of left unilateral lambdoid craniosynostosis, including occipitoparietal flattening, ipsilateral mastoid bulge, contralateral parietal bulge, and ear-level asymmetry; 3D…

Childs Nerv SystOct 21, 2026Read case
Case ReportPediatrics

Persistent Microfilaremia Caused by Dirofilaria asiatica Infection in 2-Year-Old Child, Sri Lanka, 2024.

A 2-year-old child in Sri Lanka was found to have a patent infection with Dirofilaria asiatica, a canine filarioid implicated in zoonotic human infection.

Emerg Infect DisOct 24, 2026Read case
Case ReportInfectious Diseases

Fatal Rickettsia parkeri Rickettsiosis in Immunocompromised Pediatric Patient, Georgia, USA, 2025.

A 3-year-old boy in Georgia, USA, receiving chemotherapy for B-cell acute lymphoblastic leukemia was hospitalized with febrile neutropenia.

Emerg Infect DisOct 24, 2026Read case
Case ReportMedical GeneticsOpen access

Phenotypic variability in Arboleda-Tham syndrome: a report of a polish patient with a pathogenic KAT6A variant.

A 6-year-old boy born to healthy parents had global developmental delay, with milestones reached substantially later than expected. Diagnostic evaluation began at 18 months.

Mol Biol RepOct 20, 2026Read case
Case ReportMedical Genetics

Pacak-Zhuang syndrome with EPAS1 p.Pro531Leu somatic variant: one case report and literature review.

A 4-year-old girl presented with recurrent hypertension, polycythemia and renal hilar masses. Imaging, biochemical testing and genetic analysis of paraffin-embedded tissue confirmed Pacak-Zhuang syndrome with a somatic…

HematologyOct 19, 2026Read case
Case ReportPediatrics

Hyponatremic-Hypertensive Syndrome as a Rare Manifestation of Renovascular Hypertension: A Case Series.

Two girls, aged 4 and 9 years, presented with severe hypertension and electrolyte disturbances, including hyponatremia and hypokalemia, with elevated renin-aldosterone activity.

Am J Case RepOct 22, 2026Read case
Case ReportDermatologyOpen access

Inherited epidermal differentiation disorders (EDD) in pediatric patients from a single Italian referral Center.

A retrospective review at an Italian referral center described three children with congenital, clinically heterogeneous inherited epidermal differentiation disorders.

Eur J PediatrOct 21, 2026Read case
Case ReportOtolaryngology (ENT)

Cochlear Implantation in a Child With Arnold-Chiari Syndrome, Severe Inner Ear Malformations, and Cochlear Nerve Hypoplasia: A Case Report.

A 1.5-year-old girl with Arnold-Chiari malformation, hydrocephalus, spina bifida, and profound bilateral sensorineural hearing loss had limited auditory development despite early hearing-aid use.

Am J Case RepOct 20, 2026Read case

Showing 12 of 21 publications that cleared our clinical screen in the last 14 days.

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