IMAGe association: report of two cases in siblings with adrenal hypoplasia and review of the literature
| Autor: | May R. Arroyo, Lizette Vila Duckworth, Katherine W. Phillips |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
Male
Pathology medicine.medical_specialty Pathology and Forensic Medicine Primary Adrenal Insufficiency Cortex (anatomy) X-linked adrenal hypoplasia congenita medicine Humans Abnormalities Multiple Adrenal Hyperplasia Congenital Adrenal gland business.industry Adrenal hypoplasia Siblings Infant Newborn Genetic Diseases X-Linked General Medicine Anatomy medicine.disease medicine.anatomical_structure Hypoadrenocorticism Familial Congenital adrenal hypoplasia Pediatrics Perinatology and Child Health DAX1 Adrenal medulla business Adrenal Insufficiency |
| Zdroj: | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 17(3) |
| ISSN: | 1093-5266 |
| Popis: | We report the postmortem findings of two siblings with gross and microscopic features consistent with IMAGe association (Intrauterine growth retardation, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies) with an emphasis on the histopathology of the adrenal gland in this rare syndrome. The first sibling was an 8-week old male diagnosed postnatally with primary adrenal insufficiency. There was no deletion of the DAX1 gene by FISH. Examination at autopsy revealed dysmorphic features including frontal bossing, epicanthal folds, flat philtrum, cryptorchidism, penile chordee, overriding fourth toe, and height and weight below 3rd percentile. Grossly, the adrenal glands were not identified; however, microscopic examination of the suprarenal soft tissue revealed a 3 mm focus of disorganized fetal adrenal cortex with distended “cytomegalic” cells with abundant pink eosinophilic cytoplasm, vesicular nuclei, and cytoplasmic vacuolization. A minute focus of permanent adult cortex was also seen, but no adrenal medulla was identified. An autopsy of the sibling, who died 12 years previously at day 9 of life, revealed dysmorphic facial features with cryptorchidism and a large phallus. The adrenal glands were grossly hypoplastic (11 mm). Histologically, the adrenal glands showed disorganized fetal cortex with cytomegalic cells, a larger amount of permanent adult cortex, and bizarre nuclei with numerous pseudoinclusions. While there is currently limited information regarding the histopathologic adrenal findings in IMAGe association, our small case series suggests overlapping features between X-linked recessive congenital adrenal hypoplasia (cytomegalic cells with lack of permanent adult cortex) and autosomal recessive congenital adrenal hypoplasia (diminished permanent adult cortex without cytomegalic cells). |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|