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).

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.

variants in cause sporadic early-onset progressive sensorimotor neuropathy.

Background: Charcot-Marie-Tooth disease (CMT) is a clinically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in have been associated with autosomal-recessive hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). We identified heterozygous de novo variants in in three unrelated patients with intermediate CMT.

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.

Cerebro-venous hypertension: a frequent cause of so-called "external hydrocephalus" in infants.

Introduction: External hydrocephalus (eHC) is commonly defined as a subtype of infant "hydrocephalus" consisting of macrocepahly associated with enlarged subarachnoid space and no or mild ventriculomegaly. This status is thought to be related to impaired CSF absorption because of arachnoid villi immaturity. However, other factors like the venous system might be involved in the development of the clinical picture.

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.

Interstitial duplication of chromosome region 1q25.1q25.3: report of a patient with mild cognitive deficits, tall stature and facial dysmorphisms.

Isolated interstitial duplications of chromosome band 1q25 are apparently very rare; no patients with detailed molecular and clinical characterization of duplications restricted to this region have been published to date. We report on a 9-year-old girl with mild cognitive deficits, tall stature, macrocephaly and discrete dysmorphic features in whom a de novo interstitial 7.5 Mb duplication of 1q25.

A highly polymorphic poly-glutamine stretch in the potassium channel KCNN3 in migraine.

Objective: The present study is designed to further elucidate the molecular genetic basis of migraine with and without aura.

Background: Migraine is a common disease of as yet unknown etiology. Interest in ion channels in migraine has been spurred by molecular genetic findings in familial hemiplegic migraine, since familial hemiplegic migraine type 1 is caused by mutations in the calcium channel gene CACNA1A.