Mystery Case: Catathrenia: A rare but treatable parasomnia

Catathrenia: parasomnia or uncommon feature of sleep disordered breathing?

OBJECTIVE We report a series of seven consecutive cases of catathrenia (sleep related groaning) that differ from limited previous reports in the literature with regard to sleep stage and response to treatment. BACKGROUND Catathrenia was recently defined as a parasomnia in the International Classification of Sleep Disorders Diagnostic and Coding Manual (ICSD-2), but there is debate about its c...

A Novel Approach to Isolating a Rare, but Treatable Pathogen

Biologic immune-modulating medications such as tumor necrosis factor-α (TNF-α) offer sufferers of many rheumatologic disorders symptom relief and in many cases remission. Due to the suppression of the human immune system by these drugs, opportunistic bacterial and fungal infections may occur. Although the most common infections include non-tuberculous mycobacteria, histoplasmosis, coccidiomycos...

Guanidinoacetate methyltransferase (GAMT) deficiency: a rare but treatable epilepsy.

Epilepsy commonly presents in childhood as part of a syndrome, and some such children may reach adult services without an underlying syndromic diagnosis. For adult neurologists taking over their care, it is often unclear how hard to search for an underlying diagnosis. The diagnostic yield may be small and such a diagnosis may not change management. Young adults with learning difficulties are al...

Myasthenia gravis is a rare but treatable disease.

A Treatable Refractory Epilepsy: A Case Report

Introduction Biotinidase deficiency is a life threatening inborn error of metabolism specially when delayed in diagnosis. We report a 2-month-old male infant that presented with refractory infantile spasm, alopecia and seborrheic dermatitis. With a high suspicion of the biotinidase deficiency we started biotin 10 mg daily orally before definite diagnosis was made. Rapid treatment was life-savin...