Calretinin-Immunoreactive Hypoinnervation in down Syndrome (DS): Report of an Infant with Very Short-Segment Hirschsprung Disease and Comparison to Biopsy Findings in 20 Normal Infants and 11 Infants with DS and Chronic Constipation
| Autor: | Kevin E. Bove, Ajay Kaul, Mikako Warren |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Down syndrome Time Factors Constipation Biopsy Context (language use) GPI-Linked Proteins Pathology and Forensic Medicine Diagnosis Differential 03 medical and health sciences 0302 clinical medicine Predictive Value of Tests Humans Medicine Hirschsprung Disease Intestinal Mucosa Chronic constipation Lamina propria business.industry Rectum Infant General Medicine medicine.disease Immunohistochemistry 030104 developmental biology medicine.anatomical_structure Calbindin 2 Case-Control Studies 030220 oncology & carcinogenesis Chronic Disease Pediatrics Perinatology and Child Health Acetylcholinesterase Ganglia Enteric nervous system Down Syndrome Calretinin medicine.symptom business Biomarkers |
| Zdroj: | Pediatric and Developmental Pathology. 19:87-93 |
| ISSN: | 1615-5742 1093-5266 |
| Popis: | In Down syndrome (DS) constipation is common, and the incidence of Hirschsprung disease (HD) is 1–2%. Rectal suction biopsies (RSBs) in DS may show discordant features; calretinin immunoreactivity (CRir) often helps resolve discrepancies. We report a case of unequivocal very short-segment HD (vsHD) in an infant with DS who had aganglionosis with abnormal acetylcholine esterase (AChE) activity in 3 RSBs. The CRir patterns were scanty positive rather than the expected absent CRir innervation in the lamina propria (LP). The resection specimen was grossly typical for short-segment HD, with a 5.5-cm, narrow but normally ganglionated segment proximal to the verified very short distal anganglionic zone. Unequivocal calretinin hypoinnervation was limited to the distal 2 cm, substantiating the warning of Kapur that small numbers of CRir nerves in the LP do not exclude a diagnosis of vsHD. We evaluated RSBs from 11 DS and 20 randomly selected normal infants |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|