Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation

BACKGROUND Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles. CASE REPORT This report presents a 22-month-old girl with infantile type...

An Infantile Case of Sandhoff Disease Presenting With Swallowing Difficulty

Infants with Sandhoff disease typically appear normal until 3-6 months of age. As the disease progresses, they present with symptoms such as loss of motor skills, exaggerated startle response to loud noise, seizures, visual loss, and paralysis. We encountered a rare case of a 22-month-old girl with Sandhoff disease characterized by progressive motor weakness and dysphagia, who initially showed ...

novel mutations in sandhoff disease: a molecular analysis among iranian cohort of infantile patients

background: sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency and accumulation of gm2 ganglioside resulting in progressive motor neuron manifestations and death from respiratory failure and infections in infantiles. pathogenic mutations in hexb gene were observed which leads to enzyme activity reduction and interruption of normal metabolic cycle of gm2 ga...

Brain MRI Findings in Children with Acute Lymphoblastic Leukemia

Background: Patients with leukemia are facing more complications in order to achieve longer survival. We aimed to evaluate the frequency of central nervous system abnormalities (CNS) on MRI of children with acute lymphoblastic leukemia (ALL). Methods: Sixty-six children with diagnosis of ALL aged 2-18 years were recruited. Non-contrast sequences of brain MRI in addition to diffusion weighted i...

Brain MRI Findings in Tramadol Poisoning