Mr. JB is a two-year-fourth-month old Caucasian boy from Xaghra. He is a known case of GM1 gangliosidosis. This child is a type 1, meaning early onset (presenting in the early months of life). The condition is characterised mainly by neurodegeneration and regression of achieving milestones, decreasing muscle activity and seizures. He was breastfed during his first year of life but he then started demonstrating oral feeding problems and began losing weight, necessitating nasogastric tube feeding. A soft silicone nasogastric tube was inserted in his right nostril, and requires changing every 6 weeks. This ensures adequate hydration and nutrition. He is now suffering from recurrent respiratory tract infections and was thus admitted for hospita...
Mr. FG is a 29-year-old man from Fgura. He is a known case of Tetralogy of Fallot and mitral valve r...
Background: Granulomatosis with polyangiitis (GPA) is a rare form of vasculitis involving medium and...
An 8-y-old girl was admitted to the Department ofPaediatric Immunology of our hospital because ofrec...
An 8-year old girl presented with a 2-year history of recurrent nasal skin infections. In this conte...
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysos...
Introduction: The aim of this study was to evaluate treatment approaches towards Guillain-Barré synd...
Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 defi...
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis character...
Presentation of Case: A healthy 13-year-old female presented with a 3-week history of polyarthralgia...
Ms. SA is an 8-year-old known case of Dandy-Walker syndrome managed through supraventricular and inf...
Mr. IB, a 29-year-old gentleman, who is a known case of beta thalassemia major, was referred from th...
We recently presented a case series of seven children who developed severe and complicated Guillain-...
Background: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. Case characteristics: A 4-yr...
peer reviewedBackground/Aims : Shaken Baby Syndrome (SBS) is an abusive head trauma entity and repr...
Case regarding a two-year-old boy who presented to A&E with a 7 day history of fever up to 101.8 ºF ...
Mr. FG is a 29-year-old man from Fgura. He is a known case of Tetralogy of Fallot and mitral valve r...
Background: Granulomatosis with polyangiitis (GPA) is a rare form of vasculitis involving medium and...
An 8-y-old girl was admitted to the Department ofPaediatric Immunology of our hospital because ofrec...
An 8-year old girl presented with a 2-year history of recurrent nasal skin infections. In this conte...
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects of lysos...
Introduction: The aim of this study was to evaluate treatment approaches towards Guillain-Barré synd...
Beta-galactosidase-1 deficiency is rare lysosomal storage disorder which is also called as GLB1 defi...
Aim:The purpose of our study is to submit the demographic, phenotypic and age at diagnosis character...
Presentation of Case: A healthy 13-year-old female presented with a 3-week history of polyarthralgia...
Ms. SA is an 8-year-old known case of Dandy-Walker syndrome managed through supraventricular and inf...
Mr. IB, a 29-year-old gentleman, who is a known case of beta thalassemia major, was referred from th...
We recently presented a case series of seven children who developed severe and complicated Guillain-...
Background: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. Case characteristics: A 4-yr...
peer reviewedBackground/Aims : Shaken Baby Syndrome (SBS) is an abusive head trauma entity and repr...
Case regarding a two-year-old boy who presented to A&E with a 7 day history of fever up to 101.8 ºF ...
Mr. FG is a 29-year-old man from Fgura. He is a known case of Tetralogy of Fallot and mitral valve r...
Background: Granulomatosis with polyangiitis (GPA) is a rare form of vasculitis involving medium and...
An 8-y-old girl was admitted to the Department ofPaediatric Immunology of our hospital because ofrec...