Duplication 2 (q11.2-q21): a previously unreported abnormality

Duplication 2 (q11.2-q21): a previously unreported abnormality.

Thalamic hyperdensity: a previously unreported sign of Sandhoff disease.

The patient was born at term after an uncomplicated pregnancy, labor, and delivery. The neonatal course was complicated only by mild hyperbilirubinemia, which was treated with phototherapy. When the baby was 6 months old , the mother sought medical attention because the infant was unable to sit unassisted. ACT scan performed at that time was normal. A second evaluation when the baby was 1 year ...

Xanthine oxidase deficiency: studies of a previously unreported case.

Xanthinuria is a familial disorder of purine metabolism that results from a marked deficiency of xanthine oxidase (EC 1.2.3.2) activity. We report here the clinical and biochemical features of a new case of xanthinuria. Serum urate concentration was 0.8 mg/i 00 ml, urinary uric acid excretion was 16 mg per day, urinary oxypurme excretion was 1630 mol per day, and total purine excretion was 314 ...

Solitary intercostal arterial trunk: a previously unreported anatomical variant.

During embryonic life, events may alter the normal growth and fusion of the endocardial tube, the paired dorsal aortae, and the vitelline plexus, leading to anomalies and variants of the mature axial arterial system.1 Many of these are well known, especially those associated with the aorta, heart, and umbilical artery.1,2 Vitelline variants have also been found that are either associated with M...

Localized amyloidosis of the epididymis: a previously unreported phenomenon

BACKGROUND Localized amyloidosis has not been documented in the epididymis; we report this phenomenon for the first time. CASE PRESENTATION The first aim of this work is to report three cases of localized epididymal amyloidosis. Two cases were clinically detected as epididymal nodules, and a third after reviewing 120 epididymides obtained with neighbouring pathological processes. Amyloid depo...