1/3. Dermatoglyphic (fingerprint) evidence for a congenital syndrome of early onset constipation and abdominal pain.Chronic idiopathic constipation and abdominal pain are the most common gastrointestinal symptoms but their cause is rarely determined; therefore, they usually are called functional. To determine if congenital factors play a role in these disorders, we examined dermatoglyphic (fingerprint) patterns, a congenital marker, in 155 consecutive patients with gastrointestinal complaints. Sixty-four percent of patients with constipation and abdominal pain before age 10 yr had one or more digital arches, compared with 10% of patients without constipation and abdominal pain (p less than 0.001). Seventy percent of constipated patients with arches had the onset of symptoms before age 10 yr compared with 23% of constipated patients without arches (p less than 0.001) and 14% of patients with symptoms other than constipation (p less than 0.001). Compared with an age- and sex-matched sample of patients without arches, patients with arches had a higher prevalence of constipation and abdominal pain before age 10 (p = 0.003), were more likely (p less than 0.001) to have chronic intestinal pseudoobstruction (an organic disorder), and were less likely (p = 0.013) to have irritable bowel syndrome (a functional disorder). Identification of a congenital marker, digital arches, associated with early onset constipation and abdominal pain may help to differentiate a congenital organic syndrome from functional disorders such as the irritable bowel syndrome.- - - - - - - - - - ranking = 1keywords = sample (Clic here for more details about this article) |
2/3. Inherited ophthalmoplegia with intestinal pseudo-obstruction.A new inherited neuromuscular disease was identified in 4 patients (1 male, 3 females), offspring of consanguineous marriages, belonging to the same kindred. The proband was a 24-year-old female with history of ptosis and ophthalmoplegia since childhood and progressive intestinal pseudo-obstruction for the last 4 years of her life. A sural nerve biopsy showed axonal and demyelinating neuropathy. Muscle biopsies of pectoral and gastrocnemius revealed myopathic alterations with marked variation in muscle fiber size, atrophy of both fiber types and normal mitochondria. An upper gastrointestinal study showed barium in the stomach after 8 h and jejunal diverticula. Tests for absorption of fat, protein, carbohydrate, folic acid and vitamin B12 were normal. serum levels of vitamin a and lipoproteins were also normal. The patient underwent partial gastrectomy and gastrojejunostomy. Postoperatively, she developed severe pancreatitis, sepsis, peritonitis and expired. Tissue samples from the proband and from her brother, revealed normal mucosa, but degeneration of smooth muscle of the stomach and small intestine. The myenteric plexus and vagus nerves were normal. The biochemical studies of contractile proteins (myosin, actin, tropomyosin) in the fresh and cultured smooth muscle cells of the proband obtained at the time of gastrectomy showed a 50-75% decrease in the synthesis of different contractile proteins. Turnover of contractile proteins and synthesis and turnover of collagen showed normal values. The reduction in synthesis of contractile proteins may account for the weak peristalsis and be a factor in the pathogenesis of the intestinal pseudo-obstruction.- - - - - - - - - - ranking = 1keywords = sample (Clic here for more details about this article) |
3/3. A curable cause of chronic idiopathic intestinal pseudo-obstruction in children: idiopathic myositis of the small intestine.We report an intestinal pseudo-obstruction syndrome occurring in a 6-month-old infant girl suffering from acquired major and persistent abdominal distension, which 2 months later required ileostomy. Histologic examination of samples of the small intestine showed considerable inflammatory reaction in the muscular layers of the intestinal wall. Steroid therapy, begun as soon as the histologic results were known, resulted in recovery. In a similar case, reported previously, steroid therapy used after the lesions had already caused fibrosis and atrophy of the intestinal wall, proved ineffective. This particular form of pseudo-obstruction is classified as "idiopathic myositis of the small intestine." It is important to identify the condition because an early course of steroid therapy, before the appearance of fibrotic lesions, could improve the prognosis.- - - - - - - - - - ranking = 1keywords = sample (Clic here for more details about this article) |