Diagnosis and management of glutaric aciduria type I – revised recommendations

Glutaric aciduria type I (synonym, glutaric acidemia type I) is a rare organic aciduria. Untreated patients characteristically develop dystonia during infancy resulting in a high morbidity and mortality. The neuropathological correlate is striatal injury which results from encephalopathic crises precipitated by infectious diseases, immunizations and surgery during a finite period of brain development, or develops insidiously without clinically apparent crises. Glutaric aciduria type I is caused by inherited deficiency of glutaryl-CoA dehydrogenase which is involved in the catabolic pathways of L-lysine, L-hydroxylysine and L-tryptophan. This defect gives rise to elevated glutaric acid, 3-hydroxyglutaric acid, glutaconic acid, and glutarylcarnitine which can be detected by gas chromatography/mass spectrometry (organic acids) or tandem mass spectrometry (acylcarnitines). Glutaric aciduria type I is included in the panel of diseases that are identified by expanded newborn screening in some countries. It has been shown that in the majority of neonatally diagnosed patients striatal injury can be prevented by combined metabolic treatment. Metabolic treatment that includes a low lysine diet, carnitine supplementation and intensified emergency treatment during acute episodes of intercurrent illness should be introduced and monitored by an experienced interdisciplinary team. However, initiation of treatment after the onset of symptoms is generally not effective in preventing permanent damage. Secondary dystonia is often difficult to treat, and the efficacy of available drugs cannot be predicted precisely in individual patients. The major aim of this revision is to re-evaluate the previous diagnostic and therapeutic recommendations for patients with this disease and incorporate new research findings into the guideline

Isolated Fracture of the posterolateral tibial lip (Volkmann's triangle)

Purpose: to retrospectively evaluate the underlying pathomechanism of isolated fracture of the posterolateral tibial lip (Volkmann's triangle), and to demonstrate associated radiographic methods. Material and Methods: Retrospective analysis of 2500 ankle lesions showed an isolated fracture of the dorsal tibial lip in 25 cases. Distal tibial lesions of growing individuals were not considered. All patients were examined by radiography in internal oblique and lateral views. Results: Sixteen of 25 patients had had their accident during winter; 11 had slipped on ice or snow. All 25 patients showed a closed ankle lesion in the correct joint position with no clinical signs of instability. Evaluation of the standard images showed isolated fracture of the posterolateral tibial lip in 24 patients. the fracture was best recognized in the standard lateral view in 22 patients. in 2 patients the lateral stress projection demonstrated the fracture (20° internal rotation). in one case the fracture was only seen on axial CT images. Twenty-two patients with small wedge fragments were treated conservatively; 3 with a displaced and large fragment had surgical revision and stabilization. Sixteen cases were examined by conventional radiography at follow-up examination and 5 of these showed radiological signs of arthrosis. Conclusion: Plain conventional radiography is still necessary in the primary diagnosis of ankle joint lesions. the isolated fracture of the dorsal tibial margin is best seen in the standard lateral view. Indication for CT in routine diagnostics is limited to cases showing clinical evidence of ankle injury without roentgenological signs of a fracture in the standard images. Differential diagnoses include the pilon lesion and the Maison-neuve-type fracture. </jats:p