ClC-Kb pore mutation disrupts glycosylation and triggers distal tubular remodeling.

Mutations in the CLCNKB gene (1p36), encoding the basolateral chloride channel ClC-Kb, cause type 3 Bartter syndrome. We identified a family with a mixed Bartter/Gitelman phenotype and early-onset kidney failure and by employing a candidate gene approach, identified what we believe is a novel homozygous mutation (CLCNKB c.499G>T [p.

Cervicogenic Headaches: A Literature Review and Proposed Multifaceted Approach to Diagnosis and Management.

Cervicogenic headaches are a secondary headache disorder attributable to cervical spine dysfunction resulting in head pain with or without neck pain. Diagnosis of this condition has been complicated by varied clinical presentations, causations, and differing diagnostic criteria. In this article, we aim to clarify the approach to diagnosing cervicogenic headaches by providing an overview of cervicogenic headaches, clinical case examples, and a practical diagnostic algorithm based on the most current criteria.

Management of Extensive Central Nervous System Cladophialophora bantiana Infection in a 9-Year-Old Child.

Background: Pediatric central nervous system (CNS) phaeohyphomycosis is a rare invasive fungal infection associated with high mortality.

Methods: We describe a child with progressive neurologic symptoms whose ultimate diagnosis was Cladophialophora bantiana -associated CNS phaeohyphomycosis. We discuss her clinical presentation, medical and surgical management and review the current literature.

Double Vision and Gait Ataxia in an Immunocompetent 9-Year-Old Girl With Intracranial Phaeohyphomycosis.

A 9-year-old girl presented with morning headaches associated with vomiting, gait ataxia, and facial and ocular motor nerve palsies. Her initial imaging was concerning for demyelinating disease. After extensive infectious and rheumatologic workup returned negative, she was treated twice with intravenous immunoglobulin and intravenous steroids with near-complete resolution each time.