CASPR2 autoimmunity in children expanding to mild encephalopathy with hypertension.

OBJECTIVE: To delineate autoimmune disease in association with contactin-associated protein 2 (CASPR2) antibodies in childhood, we reviewed the clinical phenotype of children with CASPR2 antibodies. METHODS: Retrospective assessment of patients recruited through laboratories specialized in autoimmune CNS disease. RESULTS: Ten children with serum CASPR2 antibodies were identified (age at manifestation 18 months to 17 years). Eight children with CASPR2 antibody titers from ≥1:160 to 1:5,120 had complex autoimmune diseases with an age-dependent clinical phenotype. Two children with structural epilepsy due to CNS malformations harbored nonspecific low-titer CASPR2 antibodies (serum titers 1:80). The clinical symptoms of the 8 children with high-titer CASPR2 antibodies were general weakness (8/8), sleep dysregulation (8/8), dysautonomia (8/8) encephalopathy (7/8), neuropathic pain (7/8), neuromyotonia (3/8), and flaccid paresis (3/8). Adolescents (3/8) showed pain, neuromyotonia, and encephalopathy, whereas younger children (5/8) displayed severe hypertension, encephalopathy, and hormonal dysfunction mimicking a systemic disease. No tumors were identified. Motor symptoms remitted with immunotherapy. Mild behavioral changes persisted in 1 child, and autism spectrum disorder was diagnosed during follow-up in a young boy. CONCLUSION: High-titer CASPR2 antibodies are associated with Morvan syndrome in children as young as 2 years. However, CASPR2 autoimmunity mimics systemic disease and hypertensive encephalopathy in children younger than 7 years. The outcome following immunotherapy was mostly favorable; long-term behavioral impairment may occur in younger children.

Unilateral Hearing Loss Due to Cochlear Nerve Involvement as Isolated Symptom of a Primary Medulloblastoma.

Unilateral sensorineural hearing loss is a common symptom of vestibular schwannomas in adolescent patients with neurofibromatosis type 2 or sporadic vestibular schwannomas and is often the initial clinical feature. While rare cases of sensorineural impairment presenting as vision or hearing loss due to metastatic medulloblastoma are known, hearing loss as an isolated presenting symptom of primary malignant neuroepithelial tumors of the central nervous system has not been reported in the pediatric population so far. We present two adolescents with unilateral hearing loss due to cochlear nerve dysfunction as the only symptom of a primary nonmetastatic medulloblastoma of the WNT signaling pathway family members subgroup.

Changes of third ventricle diameter (TVD) mirror changes of the entire ventricular system after initial therapy and during follow-up in pediatric hydrocephalus.

PURPOSE: Regular measurement of ventricular size is important in children with hydrocephalus. After closure of the fontanelle this is currently addressed by repetitive cranial MRI or CT imaging, coming along with risks of anaesthesia or radiation. As the third ventricle is accessible via the temporal bone window using ultrasound, determination of its diameter might be an easy and radiation-free alternative to assess the ventricular system. An essential precondition is that changes of the third ventricle diameter (TVD) mirror changes of the whole ventricular system. This study compares changes of TVD with changes of ventricular indices before and after initial treatment of hydrocephalus and during the following evolution. METHODS: MRT/CT images from 117 children with hydrocephalus were evaluated at time of diagnosis, after initial therapy and during follow-up with functional shunts. Measurements included axial TVD and three standard linear measures of the lateral ventricles (Evans Index - EI, fronto-occipital horn ratio - FOHR Index, and Cella Media Index - CMI). Furthermore, a correlation within subjects was calculated in 8 patients over the entire available follow-up. RESULTS: Relative changes of TVD were significantly correlated to relative changes of all ventricular indices (r = 0.48, r = 0.68 and r = 0.701 for EI, FOHR and CMI, respectively, p < 0.01). The correlation within subjects was outstanding for EI (r = 0.988), FOHR (r = 0.99) and CMI (r = 0.99). CONCLUSION: TVD showed a significant correlation with all three linear indices at the time of diagnosis and during follow-up changes independently of age, aetiology and ventricular width. TVD and its changes are therefore a reliable surrogate of changes in ventricular size in pediatric hydrocephalus undergoing treatment.

Congenital left temporal large arachnoid cyst causing intraorbital optic nerve damage in the second decade of life.

AIM: Intracranial sylvian arachnoid cysts are often asymptomatic lesions. We present a 16-year-old female patient with progressive loss of vision together with an unusual visual field defect on the left eye accompanied by headache. METHOD: A left frontotemporal sylvian arachnoid cyst was known since she was 9 months old, but observed ever since in the asymptomatic patient. Now, ophthalmological examination revealed bi-upper quadrant anopia on the left eye. Magnetic resonance imaging (MRI) and computed tomography showed erosion of the lateral orbital wall associated with intraorbital compression of the optic nerve by the cyst at the entrance into the optic canal. Microsurgical cyst fenestration to the basal cisterns was performed using a temporal mini-craniotomy. RESULT: Full improvement of vision and visual field defects was observed in the follow-up. On postoperative MRI, an increase of the tissue surrounding the optic nerve in the conus and better delineation at the entrance of optic canal was noted. CONCLUSION: Long-standing asymptomatic sylvian arachnoid cysts may suddenly produce severe unilateral visual deficits if the cyst erodes the lateral orbital wall. These deficits may rapidly revert to normal if surgical action is not delayed. If surveillance MRIs of sylvian arachnoid cysts show a narrowing of the conus diameter compared to the contralateral side, a yearly ophthalmological surveillance examination seems to be warranted in else wise asymptomatic patients.