Silent celiac disease is frequent in the siblings of newly diagnosed celiac patients.

BACKGROUND/AIMS: Celiac disease is caused by environmental and genetic factors, and the relatives of celiac patients are at higher risk of developing celiac disease than the general population. This prospective study evaluates the prevalence of celiac disease in the asymptomatic siblings of celiac patients. METHODS: Forty-eight siblings (22 males; mean age 13 years) of 39 celiac children (20 males; mean age 4 years), and 120 siblings (55 males; mean age 33 years) of 55 adult celiac patients (12 males; mean age 31 years) were serologically screened for celiac disease. Positive cases were considered for endoscopic duodenal biopsies. RESULTS: Forty of the 168 asymptomatic siblings (23.8%) were affected by celiac disease. There were no differences between the index cases with and without affected siblings in terms of age at diagnosis, symptoms at onset, order of birth, associated disorders or other affected relatives. The male siblings of pediatric patients were affected in 40.9% of cases and female siblings in 26.9%; the corresponding figures for adults were 16.4 and 23.1%. CONCLUSIONS: Silent celiac disease is 24-48 times more frequent in the siblings of celiac patients than in the general population. No predictive factors for sibling involvement were found. Adult females seem to tolerate gluten less than adult males.

Cerebellar degeneration and hearing loss in a patient with idiopathic myenteric ganglionitis.

A 35-year-old male with an 11-year history of intestinal pseudo-obstruction associated with an idiopathic inflammatory insult of the myenteric plexus and the presence of circulating anti-Hu antibodies developed a neurological syndrome characterized by bilateral hearing loss, deteriorating balance, an unsteady gait and difficulty in estimating distances. A similar neurological syndrome has previously been described in older patients among the paraneoplasic syndromes associated with small-cell lung carcinoma and the presence of circulating anti-Hu antibodies, but never in the rare cancer-free patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction. The patient underwent a steroid treatment. No further episodes of functional intestinal obstruction were observed and, after an initial improvement, the neurological symptoms stabilized, leaving a permanent reduction in hearing function and an unsteady gait. The case shows that an idiopathic inflammatory insult of the myenteric plexus may precede (and perhaps lead to) central nervous system impairment in patients with anti-Hu-associated chronic idiopathic intestinal pseudo-obstruction.

Clinical and morphofunctional features of idiopathic myenteric ganglionitis underlying severe intestinal motor dysfunction: a study of three cases.

Ganglionitis, i.e., the inflammatory neuropathy characterized by a marked lymphoplasmacellular infiltrate in the myenteric plexus, may underlie a variety of paraneoplastic, infectious, or neurological disorders, although occasional cases are idiopathic in origin. We report clinical, manometric, morphofunctional, and immunological features of three cases of idiopathic ganglionitis. All patients had megacolon and underwent surgery for repeated episodes of intestinal subocclusion. Esophageal, GI, and colonic manometry performed in one patient showed dysmotility of the whole gut. Histological examination of colonic and ileum specimens identified a prominent lymphoplasmacellular infiltrate within the myenteric plexus along with a marked decrease of a wide array of neuronal peptides/transmitters. In one patient, tissue analysis revealed progressive neuronal changes up to marked myenteric neuron damage. The inflammatory infiltrate in all patients comprised CD4+ and CD8+ T lymphocytes. Abundance of both subclasses of lymphocytes suggests that immune-mediated mechanisms were responsible for neuronal degeneration. In one patient, systemic steroid therapy brought a significant clinical improvement. The immunosuppressive approach deserves further investigation in patients with severe gut motor abnormalities attributable to idiopathic myenteric ganglionitis.