Diarrhea and autonomic dysfunction in a patient with hexosaminidase B deficiency (Sandhoff disease)
| Autor: | Robert Modigliani, Marcello Salmeron, Gerard Said, Jacqueline Mikol, Serge B. Melançon, Michel Potier, Marc Lémann, Pierre Poitras |
|---|---|
| Rok vydání: | 1994 |
| Předmět: |
Diarrhea
Male medicine.medical_specialty Biopsy Sandhoff disease Loperamide Gastroenterology Central nervous system disease Feces Orthostatic vital signs Internal medicine Intestine Small medicine Humans Hexosaminidase Gastrointestinal Transit Neurologic Examination Hepatology medicine.diagnostic_test business.industry Rectum Dysautonomia Sandhoff Disease Middle Aged medicine.disease Hexosaminidase B Body Fluids Pedigree Endocrinology Autonomic Nervous System Diseases medicine.symptom Gastrointestinal Motility business |
| Zdroj: | Gastroenterology. 106:775-781 |
| ISSN: | 0016-5085 |
| DOI: | 10.1016/0016-5085(94)90715-3 |
| Popis: | The causal factors and the physiopathology of motor diarrhea are still unclear. This case report describes a 60-year-old white man with severe diarrhea for more than 10 years and minor signs of autonomic dysfunction. Extensive investigation showed that small intestinal motility and absorption were normal but that accelerated colon transit precluded water and solute absorption from the large bowel. Orthostatic hypotension, sexual dysfunction, and loss of sweating suggested dysfunction of the autonomous nervous system, which was confirmed by reduced plasma concentrations of norepinephrine and dopamine. Rectal biopsy specimens showed enlarged enteric ganglion cells filled with lipidic material. Levels of total hexosaminidase and hexosaminidase B in plasma, white blood cells, and fibroblasts were decreased, as found in Sandhoff disease. The pedigree of the proband's family showed several affected and heterozygous individuals, detected by examination of total hexosaminidase and hexosaminidase B levels in plasma. Among the five homozygous subjects, three had a clinical picture of diarrhea and orthostatic hypotension since the age of 50. Therefore, hexosaminidase B deficiency should probably be regarded as a cause for dysautonomia; dysfunction of the gastrointestinal tract, manifested by motor diarrhea or esophageal dysmotility, could be the initial and prevalent presentation of dysautonomia. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|