Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature.

We present two patients, a 12 year old Turkish and a 7 year old Italian girl, with severe mental retardation, multiple congenital malformations and a constitutional interstitial deletion of the short arm of chromosome 17, del(17) (11.2). The main clinical features of this syndrome which is also referred to as the Smith-Magenis syndrome consist of a broad flat midface with brachycephaly, broad nasal bridge, brachydactyly, speech delay, hoarse deep voice and peripheral neuropathy. Behavioural abnormalities include hypermotility, self mutilation and sleep disturbances. The remarkable consistency of the main clinical features of the 59 patients documented so far permits the clinical diagnosis of this syndrome; a fact which is of importance, since many of the reported patients--including ours--were considered normal on earlier cytogenetic studies.

[Diagnosis and therapy of acute metabolic crisis in the neonatal period]. / Diagnostik und Therapie der akuten metabolischen Krise in der Neugeborenenperiode.

Important for the clinical outcome of an acute metabolic crisis in the newborn infant are early diagnosis and specific therapeutic measures. A selective screening procedure for the diagnosis of disorders in amino and organic acid metabolism, for beta-oxidation and urea cycle defects and mitochondriopathies is necessary. Gas chromatography/mass spectrometry is the leading diagnostic tool in this screening procedure. During the last six years ten patients with an acute metabolic crisis in the newborn period were observed at the Children's Hospital at the University of Innsbruck. In seven of them the onset of the disease occurred within the first week of life. Initially the most important therapeutic measures were withdrawal of food, induction of anabolism and specific detoxification. In our experience continuous arteriovenous hemofiltration has proved to be an efficient and applicable method for elimination of toxic metabolites in the acute crisis of a newborn infant.

[Nemaline myopathy: an unusual course]. / Nemaline-Myopathie: Ein besonderer Verlauf.

A girl presents immediately post partum with postures and movements typical for severe muscular hypotonia (floppy infant). Her sucking and swallowing abilities are reduced. There is marked drooling. Broad alveolar ridges give the impression of a high-arched palate. Floppy infant-screening (muscle enzymes, EMG, NCV) was within normal ranges apart from a slight elevation of aldolase. Muscle biopsy performed at the age of two years revealed the diagnosis of nemaline myopathy. An onset of the disease with severe muscular hypotonia during neonatal period usually is linked with rapidly progressing, mostly lethal outcome. Our patient--in contrast--seems to suffer from a mild form.