Autoimmune encephalitis and CSF anti-AMPA GluR3 antibodies in childhood: a case report and literature review.

Acute autoimmune encephalitis is a severe neurological disorder presenting with altered level of consciousness, confusion, irritability, headache, vomiting, and in some cases seizures. An infective event precedes by 1-2 weeks the onset of the symptoms. Cognitive impairment is considered the cardinal symptom. The autoimmune encephalitis comprises an increasingly group of inflammatory brain disorder caused by an underlying abnormal immune response to the CNS to the infective agent. In children, several antibodies have been recorded as causative agent. Among these, GAD65, MOG, and NMDAR antibodies are more commonly reported and with less frequency, the Dopamine-2 receptor, GABA A receptor, GABA B receptor, and Glycinereceptorandm-GluR5. We report here a 10-year-old male with acute autoimmune encephalitis with altered status of consciousness and severe cerebral involvement at the brain-MRI. Serum and cerebrospinal fluid disclosed the presence of anti-AMPA-GluR3 antibodies suggesting a possible pathogenetic correlation with the disorder presented by the proband. Precocious treatment with intravenous methylprednisolone and immunoglobulin resulted in progressive but constant improvement. At 3-month follow-up, the clinical condition of the child and the neuro-radiological brain anomalies returned to the normal. At the 2-year follow-up, no recurrence or other disturbances were reported.

Grisel syndrome, sigmoid sinus thrombosis and rheumatic carditis: Case report of a rare association.

Grisel's syndrome (GS) is a non traumatic atlanto-axial rotatory subluxation of C1-C2 joint. A six year old girl, 20 days after an episode of fever, developed a torticollis and a 3/6 heart murmur. The echocardiography showed a Rheumatic Carditis. The Brain and cervical spine Magnetic resonance imaging (MRI) and the Computerized Tomography (CT) showed rotary dislocation of C1-C2 vertebrae, compatible with GS, and cerebral venous thrombosis (CVT). An antibiotic therapy, Prednisone and a low molecular weight heparin for 7 days was prescribedfollowed by an oral anticoagulant for 6 months. After a month the MRI showed a reduction of the dislocation and cerebral venous recanalization.

Pott Disease in a 14-year-old Girl Affected by Congenital Lamellar Ichthyosis Type 3 and Diabetes Mellitus.

Extrapulmonary manifestations of tuberculosis (TB) are particularly frequent during childhood, and usually involve the lymph nodes and the skull. They are related to predisposing immunosuppression conditions. A patient affected by diabetes mellitus type 1 (DMT1) and congenital lamellar ichthyosis type 3 came at our attention with a 4-year history of recurrent parotitis and severe back pain and inferior limb hypomobility, which had lasted for 6 months. A diagnosis of chronic TB parotitis combined with Pott disease was performed after a suggestive spinal magnetic resonance imaging, and positive culture and polymerase-chain reaction examination. Surgical aspiration of the fluid collection and a 12-month antitubercular treatment resulted in complete resolution of the symptomatology. This is the first report of a Pott disease in a patient affected by the two co-occurrences of two immunosuppression diseases such as DMT1 and congenital lamellar ichthyosis type 3.