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349 articles
October 202624
Poland Syndrome with transverse upper limb deficiency: beyond the vascular disruption hypothesis.
A neonate presented with right-sided pectoral deficiency and an ipsilateral transverse upper limb deficiency at the carpal level.
A novel PGAP1 splice-site variant expanding the clinical and molecular spectrum of GPI-anchor disorders.
A patient with neurodevelopmental impairment was found to carry a novel homozygous PGAP1 splice-site variant, NM_024989.4.1173 + 1G > A.
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.
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.
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…
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).
Copy number variants across the developmental epilepsy-developmental and epileptic encephalopathy spectrum: an Indonesian case series.
A retrospective series from a tertiary hospital in Yogyakarta described four Indonesian children with developmental epilepsy or developmental and epileptic encephalopathy and pathogenic copy number variants.
Psychopathological and neuropsychological sequelae in children victimised by intimate partner violence: a clinical case series.
A clinical case series assessed four children aged 5–9 with documented exposure to intimate partner violence, including witnessing violence and, in some cases, direct abuse.
Fosfomycin-induced liver injury in a 17-year-old patient: A case report.
A previously healthy 17-year-old male developed nausea, vomiting, fever, progressive epigastric pain, fatigue, and malaise.
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.
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.
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…
Child Neurology: Neonatal Management of Tyrosine Hydroxylase Deficiency: How Early Is Early Enough?
Two preterm neonates from unrelated families with a known family history of tyrosine hydroxylase deficiency were diagnosed early. Both began levodopa/carbidopa treatment during the neonatal period.
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.
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.
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…
High-Resolution Ultrasound in the Evaluation of Median and Superficial Radial Nerve Involvement in Neurofibromatosis Type 1.
A 16-year-old girl with neurofibromatosis type 1 presented with hand pain and paresthesia. High-resolution ultrasound showed a hypervascular superficial neurofibroma, marked epineural thickening of the median nerve…
An Integrated Approach to MSI-High Colorectal Cancer Therapy in a Young Patient: A Clinical Case.
A 16-year-old male underwent appendectomy for presumed appendicitis, but persistent postoperative bowel obstruction led to CT detection of a descending-colon tumor and emergency Hartmann’s procedure.
Cardiac arrest in an adolescent following an overdose of antidepressants comprising sertraline, quetiapine fumarate, and lamotrigine: Case report.
An 11-year-old with depression ingested large quantities of sertraline (3 g), quetiapine fumarate (5 g), and lamotrigine (3 g).
A novel de novo variant of CDKL5 in an Iranian child with infantile-onset refractory epilepsy.
An Iranian girl presented with developmental delay, hypotonia, and refractory seizures. Whole-exome sequencing identified a de novo CDKL5 frameshift variant, c.1037_1038delTCinsCAGATCTAA (p.Ile346Thrfs*14), which Sanger…
A case of neonatal gastric perforation misdiagnosed as neonatal necrotizing enterocolitis: A literature review.
A male infant born at 33 weeks and 5 days presented on day four of life with abdominal distension, feeding refusal, and no passage of flatus or stool.
Focal Epithelial Hyperplasia in a Somali Child: A Case Report and Review of Management with Topical Imiquimod.
An 8-year-old Somali girl had a 3.5-year history of asymptomatic, progressively increasing oral lesions. Examination showed multiple soft, flat-topped verrucous papules on the lower labial, buccal and lingual mucosa and…
Optimization of Anticoagulation Strategy During Cardiopulmonary Bypass in Neonates with Congenital Heart Disease: A Randomized Controlled Trial.
Neonatal hemostatic immaturity complicates anticoagulation during cardiopulmonary bypass (CPB). Current practice largely follows the strategy of 400 U/kg from adult protocols, as neonatal-specific guidelines and…
Giant Cystic Lymphangioma of the Transverse Mesocolon in a 7-Year-Old Child: A Case Report.
A 7-year-old girl presented with several weeks of vomiting, abdominal pain and progressive distension. Examination found a large abdominal mass; laboratory results were unremarkable.
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