69 documents found, page 1 of 7

A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...

Disruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...

Tuberculous Meningitis: The Important Role of Imaging

Tuberculous meningitis is the most severe form of tuberculosis, and the diagnosis continues to be challenging for clinicians. Indeed, many cases of tuberculous meningitis cannot be confirmed based on clinical findings, and laboratory techniques are largely insensitive or slow. Clinical presentation can be nonspecific and suggest alternative conditions. The difficulty in diagnosis often leads to a delay in treat...

Rare Diseases and Difficulty Accessing Orphan Drugs: A Topic That Needs Discussion

Adding Evidence to the Role of NEUROG1 in Congenital Cranial Dysinnervation Dis...

Congenital cranial dysinnervation disorders (CCDDs) are a heterogeneous group of neurodevelopmental phenotypes caused by a primary disturbance of innervation due to deficient, absent, or misguided cranial nerves. Although some CCDDs genes are known, several clinical phenotypes and their aetiologies remain to be elucidated. We describe a 12-year-old boy with hypotonia, developmental delay, sensorineural hearing ...

Leigh Syndrome with Atypical Cerebellum Imaging Features

Leigh syndrome with atypical cerebellar lesions

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The...

Borrelia lusitaniae Infection Mimicking Headache, Neurologic Deficits, and Cere...

Headache with neurologic deficits and cerebrospinal fluid lymphocytosis (HaNDL) is a rare headache syndrome included in the Classification of Headache of the International Headache Society as a "headache attributed to non-infectious inflammatory intracranial disease." We report one 15-year-old patient with clinical history and cerebrospinal fluid findings compatible with the diagnosis of HaNDL in whom Borrelia ...

Leigh Syndrome with Atypical Cerebellar Lesions

Leigh Syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction, with significant phenotypic and genetic heterogeneity. It usually presents in early life, with a severe prognosis. It can be caused by more than 75 different gene mutations, of nuclear and mitochondrial origin, involving all respiratory chain complexes, with less than 25% of Leigh syndrome having mitochondrial DNA mutations. The...

Fatal Central Nervous System Lymphocytic Vasculitis after Treatment for Burkitt...

Very rarely, patients with X-linked lymphoproliferative syndrome type 1 present central nervous system vasculitis. We report a patient carrying a SH2D1A mutation that, after treatment for lymphoma developed fatal central nervous system vasculitis. He lacked signs of ongoing Epstein-Barr virus infection. We propose that impaired T cell homeostasis caused by SAP deficiency facilitates aberrant CD8 T cell activati...

Meningitis in a Small Infant. When Something is Not What it Seems