A Caenorhabditis elegans model of orotic aciduria reveals enlarged lysosome-related organelles in embryos lacking umps-1 function.

Gut granules are cell type-specific lysosome-related organelles found within the intestinal cells of Caenorhabditis elegans. To investigate the regulation of lysosome-related organelle size, we screened for C. elegans mutants with substantially enlarged gut granules, identifying alleles of the vacuolar-type H(+)-ATPase and uridine-5'-monophosphate synthase (UMPS)-1.

Ectodermal dysplasia and brain cystic changes: confirmation of a novel neurocutaneous syndrome.

Ectodermal dysplasia is a rare congenital disorder characterized by dry, brittle hair, dental malformations, and skin abnormalities. It is thought to be the result of embryonic ectodermal dysgenesis, affecting tissues and structures that are widely separated but with common developmental origins. Recently, this disorder has been associated with a unique neuroimaging appearance, consisting of widely dilated perivascular spaces.

Intracranial fibromuscular dysplasia in a six-year-old child: a rare cause of childhood stroke.

Intracranial fibromuscular dysplasia is a nonatheromatous angiopathy that most commonly affects adult women and is rarely recognized in children. Symptoms include stroke and headache, although the vasculopathy may be asymptomatic. Diagnosis is based on angiographic appearance, commonly described as a "string of beads.

Melkersson-Rosenthal syndrome: new clinicopathologic findings in 4 cases.

Objective: To define the clinicopathologic features of eyelid involvement in Melkersson-Rosenthal syndrome (MRS).

Methods: Four patients with eyelid edema consistent with MRS were evaluated clinically, including diagnostic imaging in 2 patients. Eyelid tissue from these patients was examined by light microscopy and immunohistochemistry.

The clinical spectrum of schwannomas presenting with visual dysfunction: a clinicopathologic study of three cases.

Schwannomas (neurilemomas) are benign tumors that arise from Schwann cells in the peripheral nervous system. The most commonly involved nerves that cause neuro-ophthalmic manifestations are cranial nerves V and VIII. In this series of three women, schwannomas presented as intraconal masses that mimicked a cavernous hemangioma, a superior orbital mass transgressing the superior orbital fissure, and an expansive frontal lobe mass with clinical symptoms and signs of increased intracranial pressure.