Adenomyoma arising in a meckel diverticulum: case report and review of the literature.

We report a case of adenomyoma of the small intestine arising in a Meckel diverticulum. The patient was a 22-month-old boy who presented with signs and symptoms of intussusception. At surgery, a Meckel diverticulum was found and removed. On histologic examination, a tumor consisting of dilated cystic glands and smooth muscle bundles was identified. A diagnosis of adenomyoma arising in a Meckel diverticulum was made. A review of the literature showed that only six other pediatric cases of adenomyoma of the small intestine have been reported. The presence of an adenomyoma in a young patient within a Meckel diverticulum favors the view that adenomyomas are a variant of pancreatic heterotopia.

Fundoplication and gastrostomy in familial dysautonomia.

Fundoplication with gastrostomy has become a frequent treatment for patients with familial dysautonomia, so we evaluated the use of both procedures in 65 patients. Although patients differed widely in presenting signs and age, from 5 weeks to 40 years, gastroesophageal reflux was documented in 95% of patients by cineradiography or pH monitoring. Panendoscopy was a useful adjunct. Preoperative symptoms of gastroesophageal reflux included vomiting, respiratory infections, and exaggerated autonomic dysfunction. Severe oropharyngeal incoordination frequently coexisted and resulted in misdirected swallows with aspiration, dependence on gavage feedings, or poor weight gain and dehydration. Follow-up after surgical correction ranged from 3 months to 11 years; 55 patients (85%) were available for a 1-year postoperative assessment. We had no instances of surgical death. The long-term mortality rate was 14%, primarily related to severe preexisting respiratory disease. Beyond the first postoperative year, 30 patients had pneumonia attributed to continued aspiration, exacerbation of preexisting lung disease, or recurrence of gastroesophageal reflux. Of 11 patients who vomited postoperatively, six had recurrence of reflux. Recurrence of gastroesophageal reflux was documented in eight patients (12%), and we revised the fundoplication in three patients. The number of patients with cyclic crises was reduced from 18 to 7; retching replaced overt vomiting in all but two of these seven patients, neither of whom had recurrence of reflux. Because oropharyngeal incoordination was prominent, concomitant use of gastrostomy and an antireflux procedure was especially effective in the treatment of younger patients with familial dysautonomia, before the development of severe respiratory disease. Despite the development of severe morning nausea in 15 patients, the combination procedure resulted in significantly improved nutritional status, decreased vomiting, and decreased respiratory problems. Appropriate use of gastrostomy feedings also contributed to success of the operation. The generally good outcome of fundoplication with gastrostomy confirms the benefit of this procedure in familial dysautonomia.

Bradycardia associated with hiatal hernia and gastroesophageal reflux relieved by surgery.

A man known to have familial dysautonomia presented with a cardiac arrhythmia due to development of hiatal hernia and gastroesophageal reflux. Preoperative symptoms and assessment are described including use of power spectrum analysis of heart rate fluctuations which was consistent with enhanced parasympathetic stimulation. After surgical repair of hiatal hernia and fundoplication, bradycardia resolved, gastroesophageal reflux symptoms subsided, and the power spectrum analysis of heart rate confirmed decreased parasympathetic influence. Power spectrum analysis proved to be a useful adjunct in confirming preoperative autonomic imbalance and assessing the postoperative result. It is concluded that in individuals with disorders such as familial dysautonomia that are associated with autonomic dysfunction, cardiac arrhythmias may be a sign of esophageal pathology. Thus, cardiac evaluations should be accompanied by investigation of gastroesophageal structure and function and appropriate treatment may prevent a catastrophic arrhythmia.

The syndrome of achalasia of the esophagus, ACTH insensitivity and alacrima.

A 7-year-old male presented with a triple A syndrome, a tirad of ACTH insensitivity, achilasia and alacrima. His clinical course is followed and the literature reviewed.

Zellweger syndrome: biochemical and morphological studies on two patients treated with clofibrate.

Two infants with Zellweger syndrome (cerebro-hepato-renal syndrome) have been studied biochemically and morphologically. Peroxisomal enzymes involved in respiration, fatty acid beta-oxidation, and plasmalogen biosynthesis were assessed. In liver, catalase was present in normal amounts but was located in the cell cytosol. Dihydroxyacetone phosphate acyltransferase activity was less than one-tenth of normal. The amount of the bifunctional protein catalyzing two beta-oxidation reactions was found by immunoblotting to be greatly reduced. Catalase activity was normal in intestine. D-Amino acid oxidase was subnormal in kidney. The observed enzyme deficiencies may plausibly explain many of the metabolite imbalances observed clinically. Morphologically, peroxisomes were absent from liver. In intestine, normal peroxisomes were also missing, but some rare, smaller (0.04-0.13 micrometer) bodies were seen with a slight positive cytochemical reaction for catalase. These results, together with current concepts of peroxisome biogenesis, suggest but do not prove, that the primary defect in Zellweger syndrome may be in peroxisome assembly. The infants were treated with clofibrate, but it was ineffectual as assessed biochemically, morphologically, and clinically.

Neuropathological considerations in cerebro-hepato-renal syndrome (Zellweger's syndrome).

The nervous system in patients with cerebro-hepato-renal syndrome appeared to be affected at various tissue levels. There was evidence of a migrational disorder manifested by polymicrogyria and lack of normal neuronal maturation. There was dysmyelination of the white matter associated with accumulation of neutral fat in astrocytes. Within the peripheral nerves, masses of tangled neurofilaments producing dystrophic axons were demonstrated by electron microscopy. These findings could be explained on the basis of a genetic metabolic defect, one that involved particularly the amino acids. The defect may have interfered with the normal intercellular reaction during embryogenesis resulting in the malformation of multiple organs. The same metabolic abnormality could have caused the hepatic damage and disturbance in normal myelination during the neonatal period.