Postpneumonectomy syndrome: rare, sometimes severe, but treatable!

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 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...

Hepatorenal syndrome: a severe, but treatable, cause of kidney failure in cirrhosis.

Hepatorenal syndrome (HRS) is a unique type of kidney failure that occurs in advanced cirrhosis. It is characterized by functional impairment of the kidneys due to vasoconstriction of the renal arteries in the setting of preserved tubular function and absence of significant histologic abnormalities. Renal vasoconstriction in HRS is due to severe vasodilation of the splanchnic arteries associate...

Trichoepithelioma: A Rare but Crucial Dermatologic Issue

BACKGROUND Trichoepithelioma is a rare benign skin lesion that originates from hair follicles. Trichoepitheliomas are mostly seen in the scalp, nose, forehead, and upper lip. METHODS We present a large family of Iranian origin with 15 individuals affected with multiple familial trichoepithelioma in four generations, and treated with three different methods. RESULTS Trichoepithelioma is his...