This is a case-report about a 4 year old boy with "cherry red" epiglottis, purulent meningitis and pleuropneumonia. Purulent meningitis and pleuropneumonia are not complications of treatment of "cherry red" epiglottis but an entity caused by Hemophilus influenzae-infection and is called Kleinschmidt's syndrome (Hemophilus influenzae type B-infection-syndrome). This severe illness is successfully treated if recognized early enough. At present, chloramphenicol is the therapy of choice. Intubation or tracheotomy are important but supportive measures.
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Cureus
December 2024
Ophthalmology, Palmetto Retina Center, Columbia, USA.
The purpose of this manuscript is to report a rare case of pediatric central retinal artery occlusion (CRAO) in the setting of atypical hypercoagulable tests. An 11-year-old female presented to the emergency department with painless, visual changes in the left eye. Ophthalmological examination was remarkable for a central area of retinal ischemia and edema with sparing along the distribution of the cilioretinal artery along with a cherry red spot, all of which were consistent with a CRAO.
View Article and Find Full Text PDFJ Pediatr Endocrinol Metab
December 2024
Department of Neurology, Ankara Etlik City Hospital, Ankara, Türkiye.
Objectives: Sialidosis type 1 is a rare autosomal recessive lysosomal storage disorder caused by pathogenic variants in the gene, which encodes the sialic acid-degrading enzyme α-neuraminidase. Sialidosis type 1 is a milder form with a late-onset phenotype, characterized by progressive myoclonic epilepsy and ataxia with cherry-red spots. Sialidosis type 2 is an early-onset and more severe form presenting with dysmorphic features, hepatosplenomegaly and cognitive delay.
View Article and Find Full Text PDFPediatr Dev Pathol
January 2025
Department of Human Genetics, National Institute of Pediatrics, Mexico City, Mexico.
Neuronal ceroid lipofuscinosis type 2 (CLN2) results from biallelic pathogenic variants in the gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase 1. We report an autopsy case of CLN2 characterized at molecular level. The patient exhibited a spectrum of neurologic symptoms including epilepsy, behavioral alterations, cognitive regression, motor impairment, and visual loss.
View Article and Find Full Text PDFPan Afr Med J
December 2024
Department of Ophthalmology, Faculty of Medicine Airlangga University, Dr. Soetomo General Academic Hospital Surabaya, Surabaya, Indonesia.
Central Retinal Artery Occlusion (CRAO) is a serious ophthalmic emergency characterized by sudden, painless vision loss in one eye. This condition leads to rapid and significant visual impairment if not treated promptly. This case illustrates an adult man with hypertension presented with unilateral, painless, sudden vision loss occurring 13 hours before admission.
View Article and Find Full Text PDFOrphanet J Rare Dis
November 2024
Department of Endocrinology, Beijing Children's Hospital, Capital Medical University, National Centre for Children's Health, Genetics, Metabolism, Beijing, 100045, China.
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