Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome.

We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.

Scintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia.

Gastroesophageal dysfunction is a major cause of morbidity and mortality in patients with familial dysautonomia (FD). Most studies evaluating esophageal and gastric function in FD patients are either insensitive or invasive. Thus we have used a "milk" scan to quantitate abnormalities in esophageal transit and gastric emptying, while searching for gastroesophageal reflux and aspiration in these patients. The quantitative scintigraphic evaluation was performed in 35 patients with FD, 10 of whom were studied after fundoplication, pyloroplasty and gastrostomy. A prolonged esophageal transit time, ranging from 8 s to more than 60 s duration, was demonstrated in 11 patients. Gastroesophageal reflux was detected in 26 patients. In 16 patients delayed gastric emptying ranging from 63-94% was detected at 30 min, and in 13 patients delayed emptying ranging from 37-86% was observed at 120 min. Pulmonary aspiration was detected in 8 non-operated patients, four of whom had abnormal gastric emptying. The scintigraphic analysis of both esophageal transit and gastric emptying in familial dysautonomia is presented, and its role in evaluation and management of these patients discussed.

Menetrier's disease: evolution of disease under histamine-2 receptor antagonists.

A 33-yr-old man, with known peptic disease, developed giant thickening of the gastric mucosa and hypoproteinemia. Serial endoscopic and x-ray examinations of the upper gastrointestinal tract were available before and after the development of Menetrier's disease. In a 1-yr interval, erosive gastritis developed in a normal gastric mucosa, which was followed a few months later by hypoproteinemia. The patient developed the disease while being treated with histamine-2 receptor antagonists.

Case report 729. Myositis ossificans and aneurysmal bone cyst.

This is the first reported case of ABC in a reactive lesion of soft tissue. The ABC may be regarded as an unusual type of organization of hematoma encountered in a bone-producing milieu. This would support the current concept that ABC occurring in association with another condition represents a secondary change in a pre-existing lesion.

Acquired tracheoesophageal fistula in infancy and childhood.

Acquired tracheoesophageal fistula (TEF) is a rare entity in the pediatric age group. We report two pediatric patients with acquired TEF caused by shells of pistachio nuts. In both patients the primary operation did not resolve the problem and a second intervention for recurrent fistula was needed. The special nature of acquired TEF, particularly the one described herein, requires delayed surgical intervention and meticulous separation of the respiratory and alimentary tracts by an intercostal muscle flap.

Megaesophagus and recurrent apnea in an adult patient with familial dysautonomia.

A 42-yr-old woman with familial dysautonomia (FD) presented with severe episodes of apnea during the daytime, as well as during sleep. Investigations revealed a megaesophagus and a lower esophageal constriction. These caused accumulation of food in the esophagus, resulting in recurrent aspiration and apnea which disappeared after gastrostomy. Megaesophagus, a rare complication in FD patients, can occur in other diseases with autonomic dysfunctions, and one must be aware of its potential respiratory complications.

Prolonged pyrexia and lung metastases. A rare presentation of an occult epithelioid sarcoma.

A 31-year-old patient presenting with fever of unknown origin, night sweats and weight loss, associated later with pulmonary nodules, is described. Multiple invasive diagnostic procedures, including exploratory laparotomy and open-lung biopsy, suggested a benign inflammatory granulomatous disease. Metastatic epithelioid sarcoma was ultimately diagnosed after biopsy of an enlarging groin mass. Epithelioid sarcoma should be considered in the differential diagnosis of prolonged fever, associated with granulomas of obscure etiology.

Successful treatment after 'drowning' in sand.

A 30 month old boy who aspirated a large amount of dirty sand was successfully resuscitated and made a full recovery.

Erythromycin-induced dynamic ileus?

A 39-year-old man and a 79-year-old woman developed dynamic ileus soon after erythromycin stearate was administered for a respiratory tract infection. Both had had prior uncomplicated abdominal operations: the man, vagotomy and pyloroplasty for bleeding duodenal ulcer, 3 years earlier; and the woman, an appendectomy some 44 years before. The temporal association with erythromycin therapy, resolution of signs and symptoms when the drug was stopped, an uneventful recovery, and the absence of other causes, suggest a possible role of erythromycin in the pathogenesis of dynamic ileus in these patients. Disturbed gastrointestinal motility patterns caused by erythromycin, in the presence of structural changes of the alimentary tract due to prior surgical procedures, may have contributed and we review these events.

Multiple gastrointestinal atresias with intraluminal calcifications.

A case is reported of multiple atresia of the entire gastrointestinal tract, extending from the stomach to the distal colon. The defect is rare and no survivors have been reported.

Familial medullary sponge kidney in association with congenital absence of teeth (anodontia).

Medullary sponge kidney was found in association with congenital absence of teeth (anodontia) in 3 siblings of a single family. Anodontia occurs in the rare familial syndrome of ectodermal dysplasia, but its association with a renal (mesodermal) anomaly is not known. The present report lends further support to a possible hereditary etiology for medullary sponge kidney.

Exacerbation of idiopathic pulmonary hemosiderosis in pregnancy.

Idiopathic pulmonary hemosiderosis (IPH) is a very rare disease in adults. Its occurrence in pregnancy has been described only once. A case of a 16-yr-old patient with an exacerbation of IPH during pregnancy resulting in intrauterine fetal death in the 28th week of gestation is described. The deterioration of the IPH is most probably related to the hemodynamic alterations which are at their maximum during the seventh month of pregnancy. Although rare, the case suggests that women with IPH should be followed carefully during pregnancy and, in the case of a deterioration in the patient's condition despite immunosuppressive therapy, termination of pregnancy should be considered.

Calcification of intervertebral disks in I-cell disease.

I-cell disease (ICD) is associated with skeletal dysplasia. However, changes of the intervertebral disks had not been previously reported. We describe a child with clinical and laboratory evidence of ICD who had multiple intervertebral disk calcifications. Since an excessive degeneration of the cartilage had previously been found in ICD, we propose that this process may give rise to calcification of the intervertebral disks in patients with ICD.

Perforation of the esophagus electrocardiographically mimicking myocardial infarction.

A 76-year-old woman developed a perforation of the median esophagus. A concomitant electrocardiographic follow-up was compatible with an acute anterior wall myocardial infarction, but was not accompanied by typical chest pain or elevated serum myocardial enzymes. Perforation of the esophagus is added to the list of diseases electrocardiographically imitating acute myocardial infarction.