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Enhanced S-Cone Syndrome Masquerading as TORCH in an Infant and a Toddler.
Ocul Immunol Inflamm
February 2023
Department of Ophthalmology, Hadassah Medical Center, Jerusalem, Israel.
Purpose: To report two cases masquerading as TORCH but eventually diagnosed with Enhanced S-cone Syndrome (ESCS).
Methods: Descriptive case report.
Results: : A ten-month-old boy presented with high hypermetropia, strabismus and bilateral chorioretinal pigmented scars with a history of cat scratch of his mother during pregnancy.
Ocular manifestations in a patient with Dandy-Walker malformation: A case report.
Radiol Case Rep
March 2022
Department of Radiology, Jinnah Medical and Dental College, Karachi, Pakistan.
We present a unique case of a ten-month-old boy with a protruding left globe and vitreous haemorrhaging, and later being diagnosed as a case of a dandy-walker syndrome (DWS) with buphthalmos and vitreous haemorrhage. Treatment is depending on the symptoms reported, thus close monitoring and a multidisciplinary approach are essential. We would like to recommend that even if there are no cardinal symptoms of DWS, paediatric patients with ocular signs should have Dandy walker Malformation (DWM) considered as a differential diagnosis.
View Article and Find Full Text PDF[Analysis of a Chinese pedigree with autosomal dominant Charcot-Marie-Tooth disease type 2A2A].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2021
Department of Blood Transfusion, Children's Hospital Affiliated to Zhengzhou University,Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China.
Objective: To explore the genetic basis of a pedigree affected with peroneal muscular atrophy.
Methods: Neuroelectrophysiological examination and whole exome sequencing were carried out for the proband, a six-year-and-ten-month-old boy. Suspected variant was verified in his family members through Sanger sequencing.
[Surgical Case of Accidental Infantile Acute Subdural Hematoma Caused by Household Minor Head Trauma:Hyperperfusion during Postoperative Hemispheric Hypodensity, Namely "Big Black Brain"].
No Shinkei Geka
September 2020
Department of Neurosurgery, Nagano Red Cross Hospital.
We experienced a case of an accidental infantile acute subdural hematoma caused by household minor head trauma(Nakamura type I intracranial hemorrhage)with postoperative hemispheric hypodensity lesion(Big Black Brain)whose pathophysiology was analyzed using perfusion MRI. A ten-month-old boy was admitted to our hospital in a comatose state. His mother revealed that the boy suffered a fall from a sofa bed.
View Article and Find Full Text PDFCase report of a novel MPIG6B gene mutation in a Chinese boy with pancytopenia and splenomegaly.
Gene
October 2019
Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics (Capital Medical University); Key Laboratory of Major Diseases in Children, Ministry of Education; Hematology Oncology Center, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 56 Nanlishilu Xicheng Dist, Beijing, China, 100045. Electronic address:
MPIG6B has orthologous physiological effects in human and mice, which regulates platelet production and function. For this reason, germline loss-of-function mutations in this gene cause congenital thrombocytopenia that is associated with bone marrow fibrosis, organomegaly and subsequent anemia. This was described in a consanguineous Arabian family with a novel truncation mutation (p.
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