Combined Central and Peripheral Demyelination (CCPD) Associated with MOG Antibodies: Report of Four New Cases and Narrative Review of the Literature.

: Myelin oligodendrocyte glycoprotein (MOG) is exclusively expressed in the central nervous system (CNS) and is found on the outer surface of oligodendrocytes. Antibodies to MOG are associated with CNS demyelination, whereas peripheral nervous system (PNS) demyelination is seldom reported to be related to MOG-IgG. : The database of patients seen in our neurological academic center was searched for MOG-IgG seropositivity and concomitant demyelinating polyneuropathy.

Predictors of the clinical severity of T1DM presentation at diagnosis in children and adolescents with type 1 diabetes mellitus (T1DM).

Purpose: We aimed to assess factors associated with the presence and severity of ketoacidosis (DKA) at pediatric type 1 diabetes (T1DM) diagnosis, in relation to pancreatic, associated and familial autoimmunity.

Methods: Antibodies against pancreatic beta-cells, organ specific autoantibodies (thyroid, celiac, and parietal) and family history of autoimmunity were retrospectively evaluated in 116 T1DM patients aged 11.9 ± 4.

Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms.

Objectives: Genetics of epilepsy are highly heterogeneous and complex. Lesions detected involve genes encoding various types of channels, transcription factors, and other proteins implicated in numerous cellular processes, such as synaptogenesis. Consequently, a wide spectrum of clinical presentations and overlapping phenotypes hinders differential diagnosis and highlights the need for molecular investigations toward delineation of underlying mechanisms and final diagnosis.

Growth Hormone Deficiency due to p.(Gln467Argfs*64) Mutation in the Gene in a Girl with Coffin-Siris Syndrome.

Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients.

Case Presentation: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy.

Familial autoimmunity in pediatric patients with type 1 diabetes (T1D) and its associations with the severity of clinical presentation at diabetes diagnosis and with coexisting autoimmunity.

Purpose: The aim was to evaluate the impact of familial autoimmunity on the age and severity of type 1 diabetes (T1D) presentation and on the coexistence of other autoimmune diseases.

Methods: We retrospectively evaluated the medical records of 121 children/adolescents (male: 63) followed in our Diabetic Clinic from 2002 to 2016.

Results: Seventy-six patients (62.

Predictors of associated and multiple autoimmunity in children and adolescents with type 1 diabetes mellitus.

Purpose: Type 1 diabetes mellitus (T1DM) is an autoimmune condition characterised by the presence of antipancreatic antibodies. The autoimmune process is also directed against other organs, most frequently against the thyroid gland, intestinal mucosa, and gastric parietal cells.

Methods: Our investigation included 121 children with T1DM with a mean age±standard deviation of 11.

Novel Hemizygous Missense Variant of Spermine Synthase () Gene Causes Snyder-Robinson Syndrome in a Four-Year-Old Boy.

Snyder-Robinson syndrome (SRS) is an extremely rare X-linked intellectual disability syndrome (MRXSSR; MIM #309583). The main clinical features of SRS include psychomotor delay, hypotonia, and asthenic-type body habitus - reduced body weight and bone abnormalities (osteoporosis, fractures, kyphoscoliosis). We report a case of SRS with a hemizygous missense variant in the gene,c.